Variant report

Variant	nsv606469
Chromosome Location	chr7:27220831-27247279
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:772)
CpG islands
(count:6049)
Chromatin interactive
region (count:69)
LncRNA
region (count:78)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:772 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:27235883-27236161	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:27235933-27236148	K562	blood:	n/a	n/a
3	BACH1	chr7:27232517-27232527	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr7:27227265-27227448	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr7:27232791-27232804	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr7:27239932-27239942	H1-hESC	embryonic stem cell:	n/a	n/a
7	BHLHE40	chr7:27231856-27231876	K562	blood:	n/a	n/a
8	BHLHE40	chr7:27235895-27236179	K562	blood:	n/a	n/a
9	BRCA1	chr7:27235896-27236189	H1-hESC	embryonic stem cell:	n/a	n/a
10	BRCA1	chr7:27224633-27225033	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr7:27224835-27225034	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr7:27227908-27228108	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr7:27234488-27234960	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr7:27223603-27225196	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr7:27234683-27234883	HepG2	liver:	n/a	n/a
16	CHD1	chr7:27228579-27228647	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD2	chr7:27227704-27227890	Hela-S3	cervix:	n/a	chr7:27227787-27227794
18	CHD2	chr7:27223467-27225105	Hela-S3	cervix:	n/a	n/a
19	CHD2	chr7:27224385-27224508	GM12878	blood:	n/a	n/a
20	CHD2	chr7:27231500-27231700	Hela-S3	cervix:	n/a	n/a
21	CHD2	chr7:27229515-27229589	Hela-S3	cervix:	n/a	n/a
22	CHD2	chr7:27228537-27228906	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr7:27223001-27223133	Hela-S3	cervix:	n/a	n/a
24	CHD2	chr7:27222908-27223033	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr7:27239972-27240015	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr7:27239642-27240298	Hela-S3	cervix:	n/a	n/a
27	CREB1	chr7:27239286-27240202	A549	lung:	n/a	n/a
28	CREB1	chr7:27232637-27233007	H1-hESC	embryonic stem cell:	n/a	chr7:27232728-27232741
29	CREB1	chr7:27223953-27224232	H1-hESC	embryonic stem cell:	n/a	n/a
30	CREB1	chr7:27223787-27224170	H1-hESC	embryonic stem cell:	n/a	n/a
31	CREB1	chr7:27223817-27224281	A549	lung:	n/a	n/a
32	CTBP2	chr7:27238575-27239234	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTBP2	chr7:27222597-27223358	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTBP2	chr7:27230808-27233158	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTBP2	chr7:27241644-27242354	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTBP2	chr7:27227146-27228914	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTBP2	chr7:27223661-27224698	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTBP2	chr7:27239696-27240391	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTBP2	chr7:27244530-27245315	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTBP2	chr7:27224973-27226029	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr7:27235940-27236090	MCF-7	breast:	n/a	n/a
42	CTCF	chr7:27235960-27236110	GM12872	blood:	n/a	n/a
43	CTCF	chr7:27235884-27236114	A549	lung:	n/a	n/a
44	CTCF	chr7:27235155-27236544	A549	lung:	n/a	n/a
45	CTCF	chr7:27222140-27222290	AG10803	skin:	n/a	n/a
46	CTCF	chr7:27235960-27236110	HEEpiC	esophagus:	n/a	n/a
47	CTCF	chr7:27235846-27236174	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr7:27235940-27236090	GM12874	blood:	n/a	n/a
49	CTCF	chr7:27235900-27236050	AG09319	gingival:	n/a	n/a
50	CTCF	chr7:27235540-27235690	AG04450	lung:	n/a	n/a

(count:6049 , 50 per page) page: 1 2 3 4 5 6 7 ... 121

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:27225528-27225578	GM06990	blood:	n/a
2	chr7:27225476-27225526	T-47D	breast:	n/a
3	chr7:27225523-27225573	A549	lung:	n/a
4	chr7:27225299-27225349	NHDF-neo	bronchial:	n/a
5	chr7:27231894-27231944	HEK293	kidney:	embryo
6	chr7:27242424-27242474	H1-hESC	embryonic stem cell:	embryo
7	chr7:27224568-27224618	HPAEpiC	pulmonary alveolar:	n/a
8	chr7:27227358-27227408	ProgFib	skin:	n/a
9	chr7:27225299-27225349	RPTEC	kidney:	n/a
10	chr7:27241279-27241329	ECC-1	luminal epithelium:	n/a
11	chr7:27225528-27225578	GM06990	blood:	n/a
12	chr7:27225476-27225526	T-47D	breast:	n/a
13	chr7:27225523-27225573	A549	lung:	n/a
14	chr7:27225299-27225349	NHDF-neo	bronchial:	n/a
15	chr7:27231894-27231944	HEK293	kidney:	embryo
16	chr7:27242424-27242474	H1-hESC	embryonic stem cell:	embryo
17	chr7:27224568-27224618	HPAEpiC	pulmonary alveolar:	n/a
18	chr7:27227358-27227408	ProgFib	skin:	n/a
19	chr7:27225299-27225349	RPTEC	kidney:	n/a
20	chr7:27241279-27241329	ECC-1	luminal epithelium:	n/a
21	chr7:27246799-27246849	LNCaP	prostate:	n/a
22	chr7:27225070-27225120	Hepatocyte	liver:	n/a
23	chr7:27222869-27222919	ovcar-3	ovarian:	n/a
24	chr7:27237154-27237204	AG04449	skin:	fetal
25	chr7:27221557-27221607	HIPEpiC	eye:	n/a
26	chr7:27224123-27224173	SK-N-SH_RA	brain:	n/a
27	chr7:27225523-27225573	AG09319	gingival:	n/a
28	chr7:27245747-27245797	HIPEpiC	eye:	n/a
29	chr7:27240758-27240808	HepG2	liver:	n/a
30	chr7:27243221-27243271	HIPEpiC	eye:	n/a
31	chr7:27225319-27225369	Jurkat	blood:	n/a
32	chr7:27225897-27225947	HMEC	breast:	n/a
33	chr7:27224343-27224393	BE2_C	brain:	n/a
34	chr7:27232150-27232200	HCF	heart:	n/a
35	chr7:27225143-27225193	HCM	heart:	n/a
36	chr7:27245296-27245346	HepG2	liver:	n/a
37	chr7:27242161-27242211	Hela-S3	cervix:	n/a
38	chr7:27225319-27225369	MCF-7	breast:	n/a
39	chr7:27225448-27225498	ovcar-3	ovarian:	n/a
40	chr7:27223692-27223742	BJ	skin:	n/a
41	chr7:27225897-27225947	SK-N-SH	brain:	n/a
42	chr7:27224311-27224361	NH-A	brain:	n/a
43	chr7:27238910-27238960	A549	lung:	n/a
44	chr7:27245747-27245797	GM06990	blood:	n/a
45	chr7:27241203-27241253	Hepatocyte	liver:	n/a
46	chr7:27225299-27225349	PANC-1	pancreas:	n/a
47	chr7:27225528-27225578	NB4	blood:	n/a
48	chr7:27224954-27225004	Caco-2	colon:	n/a
49	chr7:27236674-27236724	Hela-S3	cervix:	n/a
50	chr7:27229028-27229078	ECC-1	luminal epithelium:	n/a

(count:69 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27219032..27220878-chr7:27222299..27224136,2	MCF-7	breast:
2	chr7:27232082..27233586-chr7:27238989..27241639,2	MCF-7	breast:
3	chr2:190648522..190649281-chr7:27224530..27225300,2	Hela-S3	cervix:
4	chr10:374998..375630-chr7:27224362..27225025,2	Hela-S3	cervix:
5	chr7:27224792..27226956-chr7:27228640..27230283,2	MCF-7	breast:
6	chr12:52446489..52447790-chr7:27223647..27224601,3	Hela-S3	cervix:
7	chr7:27225108..27225793-chrX:130036788..130037288,2	Hela-S3	cervix:
8	chr7:27235576..27236377-chr7:27249896..27250620,2	MCF-7	breast:
9	chr7:27235522..27236272-chr7:27960656..27961542,3	MCF-7	breast:
10	chr1:155242577..155243301-chr7:27224203..27225069,2	Hela-S3	cervix:
11	chr2:86850155..86850837-chr7:27224722..27225222,2	Hela-S3	cervix:
12	chr1:150551670..150552244-chr7:27228380..27229287,2	Hela-S3	cervix:
13	chr3:57582642..57583279-chr7:27228830..27229398,2	Hela-S3	cervix:
14	7:27165488-27167947..7:27230275-27238414	H1-hESC	embryonic stem cell:	embryo
15	7:27143270-27156413..7:27242351-27246403	H1-hESC	embryonic stem cell:	embryo
16	chr16:1543000..1543574-chr7:27224359..27225213,2	Hela-S3	cervix:
17	chr1:145382445..145384659-chr7:27230389..27233272,2	K562	blood:
18	chr7:27235586..27236483-chr7:27814427..27814953,2	K562	blood:
19	chr12:108079339..108079864-chr7:27224587..27225118,2	Hela-S3	cervix:
20	chr7:27235919..27236503-chr7:27615711..27616568,3	K562	blood:
21	chr7:27235585..27236283-chr7:27615659..27616283,3	MCF-7	breast:
22	chr17:41465557..41466203-chr7:27228171..27228943,2	Hela-S3	cervix:
23	chr15:91445636..91446244-chr7:27224618..27225247,2	Hela-S3	cervix:
24	chr15:72765696..72766554-chr7:27231377..27231936,2	Hela-S3	cervix:
25	chr7:27236687..27240147-chr7:27700482..27703881,4	MCF-7	breast:
26	7:27162022-27164727..7:27216170-27221403	H1-hESC	embryonic stem cell:	embryo
27	chr7:27235744..27236310-chr7:27250561..27251376,2	K562	blood:
28	chr7:27202105..27204960-chr7:27220530..27223472,3	MCF-7	breast:
29	chr1:159894463..159895249-chr7:27224803..27225405,2	Hela-S3	cervix:
30	chr22:43011194..43011998-chr7:27223577..27224147,2	Hela-S3	cervix:
31	chr5:133561410..133562167-chr7:27224339..27224947,2	Hela-S3	cervix:
32	7:27242351-27246403..7:27282073-27287306	H1-hESC	embryonic stem cell:	embryo
33	chr7:27217387..27221298-chr7:27222278..27226013,4	K562	blood:
34	chr7:27223347..27224158-chr7:27231443..27231952,2	Hela-S3	cervix:
35	7:27210222-27216016..7:27242351-27246403	H1-hESC	embryonic stem cell:	embryo
36	chr15:72409969..72410917-chr7:27223870..27224480,2	Hela-S3	cervix:
37	7:27061277-27071265..7:27238414-27242313	Hela-S3	cervix:
38	chr12:42719835..42720410-chr7:27224445..27225440,2	Hela-S3	cervix:
39	chr1:150533834..150534371-chr7:27224324..27225290,2	Hela-S3	cervix:
40	chr5:40834751..40835393-chr7:27227600..27228314,2	Hela-S3	cervix:
41	chr7:27235712..27236549-chr7:28059093..28059975,2	K562	blood:
42	chr7:27223543..27225777-chr7:28060151..28062012,2	MCF-7	breast:
43	7:27176959-27181770..7:27242351-27246403	H1-hESC	embryonic stem cell:	embryo
44	7:27162022-27164727..7:27238414-27242313	H1-hESC	embryonic stem cell:	embryo
45	chr7:27243864..27245407-chr7:27245936..27248869,2	MCF-7	breast:
46	chr7:27217387..27221298-chr7:27222278..27226013,4	K562	blood:
47	7:27216170-27221403..7:27230275-27238414	H1-hESC	embryonic stem cell:	embryo
48	7:27216170-27221403..7:27230275-27238414	H1-hESC	embryonic stem cell:	embryo
49	chr7:27235818..27236493-chr7:28132997..28133620,3	K562	blood:
50	chr7:27219637..27221411-chr7:27224788..27226339,2	K562	blood:

(count:78 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EVX1-3	chr7:27241461-27242257	ENSG00000243766
2	lnc-EVX1-3	chr7:27240242-27241306	ENSG00000243766
3	lnc-HOXA11-1	chr7:27235769-27235994	NONHSAT119714
4	lnc-HOXA13-1	chr7:27232227-27232305	XLOC_006390
5	lnc-HOXA13-2	chr7:27226192-27226442	ENSG00000253508.1
6	lnc-EVX1-3	chr7:27240242-27242441	ENSG00000243766
7	lnc-HOXA13-1	chr7:27226866-27231685	XLOC_006390
8	lnc-HOXA13-3	chr7:27233122-27233177	NONHSAT119713
9	lnc-EVX1-3	chr7:27240040-27240140	ENSG00000243766
10	lnc-EVX1-3	chr7:27240056-27240140	ENSG00000243766.3
11	lnc-EVX1-3	chr7:27244331-27246878	ENSG00000243766
12	lnc-EVX1-3	chr7:27240040-27240140	ENSG00000243766
13	lnc-EVX1-3	chr7:27240040-27240140	ENSG00000243766
14	lnc-EVX1-3	chr7:27240242-27241306	ENSG00000243766
15	lnc-EVX1-3	chr7:27240040-27240140	NR_037843
16	lnc-EVX1-3	chr7:27240040-27240140	ENSG00000243766
17	lnc-EVX1-3	chr7:27241461-27242257	ENSG00000243766
18	lnc-EVX1-3	chr7:27240242-27242257	NR_037843
19	lnc-HOXA13-4	chr7:27245387-27246119	NONHSAT119719
20	lnc-EVX1-3	chr7:27240242-27241442	ENSG00000243766.3
21	lnc-EVX1-3	chr7:27240242-27241306	ENSG00000243766
22	lnc-EVX1-3	chr7:27241461-27242257	ENSG00000243766
23	lnc-EVX1-5	chr7:27228220-27228912	XLOC_006025
24	lnc-EVX1-3	chr7:27240242-27242441	ENSG00000243766
25	lnc-EVX1-5	chr7:27225027-27225882	XLOC_006025
26	lnc-EVX1-3	chr7:27240242-27242441	ENSG00000243766
27	lnc-EVX1-3	chr7:27240242-27240855	ENSG00000243766
28	lnc-EVX1-3	chr7:27244331-27246878	ENSG00000243766
29	lnc-EVX1-3	chr7:27244331-27246878	ENSG00000253769
30	lnc-EVX1-3	chr7:27244331-27246878	NR_037843
31	lnc-EVX1-5	chr7:27228220-27228786	ENSG00000240990.4
32	lnc-EVX1-3	chr7:27240242-27240855	ENSG00000243766
33	lnc-EVX1-3	chr7:27240056-27240140	ENSG00000243766.3
34	lnc-EVX1-3	chr7:27238194-27238360	ENSG00000243766
35	lnc-EVX1-3	chr7:27240056-27240140	ENSG00000243766
36	lnc-EVX1-3	chr7:27238194-27238360	ENSG00000243766
37	lnc-HOXA13-2	chr7:27232763-27233067	ENSG00000253508.1
38	lnc-EVX1-3	chr7:27240242-27240855	ENSG00000243766
39	lnc-EVX1-3	chr7:27240242-27240855	ENSG00000243766
40	lnc-EVX1-5	chr7:27226302-27226488	XLOC_006025
41	lnc-EVX1-3	chr7:27240242-27240855	ENSG00000243766
42	lnc-EVX1-3	chr7:27240056-27240140	ENSG00000243766
43	lnc-EVX1-3	chr7:27240056-27240140	ENSG00000243766.3
44	lnc-EVX1-5	chr7:27227438-27227639	XLOC_006025
45	lnc-EVX1-3	chr7:27240242-27241442	ENSG00000243766.3
46	lnc-EVX1-3	chr7:27240056-27240140	ENSG00000243766
47	lnc-EVX1-5	chr7:27225153-27225882	ENSG00000240990.4
48	lnc-EVX1-5	chr7:27227693-27228912	NONHSAT119711
49	lnc-EVX1-3	chr7:27240242-27241306	ENSG00000243766
50	lnc-EVX1-3	chr7:27240242-27241442	ENSG00000243766.3

No data

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	HOXA11	hsa-miR-30d-5p	chr7:27221235-27221256
2	HOXA11	hsa-miR-335-5p	chr7:27221418-27221441
3	HOXA11	hsa-miR-30d-5p	chr7:27221241-27221234

Variant related genes	Relation type
HOXA11-AS	TF binding region
HOXA11	TF binding region
HOTTIP	TF binding region
HOXA10	TF binding region
ENSG00000257184	TF binding region
HOXA13	TF binding region
ENSG00000253508	TF binding region
HOXA11-AS	CpG island
HOXA11	CpG island
HOTTIP	CpG island
HOXA10	CpG island
ENSG00000257184	CpG island
HOXA13	CpG island
ENSG00000253508	CpG island
ENSG00000261423	chromatin interactions
ENSG00000066933	chromatin interactions
ENSG00000135486	chromatin interactions
ENSG00000128699	chromatin interactions
ENSG00000136045	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000266751	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000270022	chromatin interactions
ENSG00000168374	chromatin interactions
ENSG00000166192	chromatin interactions
ENSG00000100227	chromatin interactions
ENSG00000106031	chromatin interactions
ENSG00000243766	chromatin interactions
ENSG00000153814	chromatin interactions
ENSG00000257184	chromatin interactions
ENSG00000272772	chromatin interactions
ENSG00000214869	chromatin interactions
ENSG00000064933	chromatin interactions
ENSG00000165675	chromatin interactions
ENSG00000176444	chromatin interactions
ENSG00000113407	chromatin interactions
ENSG00000078399	chromatin interactions
ENSG00000139168	chromatin interactions
ENSG00000143384	chromatin interactions
ENSG00000196547	chromatin interactions
ENSG00000253552	chromatin interactions
ENSG00000273433	chromatin interactions
ENSG00000105991	chromatin interactions
ENSG00000134283	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000151240	chromatin interactions
ENSG00000158710	chromatin interactions
ENSG00000113575	chromatin interactions
ENSG00000105997	chromatin interactions
ENSG00000145592	chromatin interactions
ENSG00000253508	chromatin interactions
ENSG00000203804	chromatin interactions
ENSG00000239305	chromatin interactions
ENSG00000240990	chromatin interactions
ENSG00000253293	chromatin interactions
ENSG00000100726	chromatin interactions
ENSG00000106004	chromatin interactions
ENSG00000270177	chromatin interactions
ENSG00000254369	chromatin interactions
ENSG00000106006	chromatin interactions
ENSG00000253405	chromatin interactions
ENSG00000233429	chromatin interactions
ENSG00000272801	chromatin interactions
ENSG00000106038	chromatin interactions
ENSG00000266055	chromatin interactions
ENSG00000106049	chromatin interactions
ENSG00000005073	chromatin interactions
ENSG00000094916	chromatin interactions
HOXA13	lncRNA
HOXA9	lncRNA
HOXA11	lncRNA
HOXA7	lncRNA
HOXA10	lncRNA
TMTC3	miRNA target sites
PLAG1	miRNA target sites
OSBPL9	miRNA target sites
TBC1D1	miRNA target sites

Extended variants
information (count: 1093 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:1093 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6461992	chr7:27220831-27220832	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182434774	chr7:27220838-27220839	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs552316727	chr7:27220840-27220841	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs79389911	chr7:27220845-27220846	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs542049338	chr7:27220883-27220884	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs17427847	chr7:27220912-27220913	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs149842603	chr7:27220924-27220925	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs535094258	chr7:27220929-27220930	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs370411558	chr7:27220935-27220936	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs574765728	chr7:27220958-27220959	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs537004454	chr7:27220972-27220973	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs557225444	chr7:27220975-27220976	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs577182999	chr7:27220983-27220984	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs192875544	chr7:27220984-27220985	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs79891240	chr7:27221035-27221036	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs573004664	chr7:27221053-27221054	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs555512277	chr7:27221056-27221057	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs561572484	chr7:27221062-27221063	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs201009141	chr7:27221065-27221066	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs75993563	chr7:27221066-27221067	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs58212052	chr7:27221075-27221076	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs541323635	chr7:27221081-27221082	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs184159521	chr7:27221110-27221111	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs550276083	chr7:27221135-27221136	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs17472245	chr7:27221137-27221138	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs372861799	chr7:27221143-27221144	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs67971665	chr7:27221227-27221228	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs552380318	chr7:27221228-27221229	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs374041480	chr7:27221247-27221248	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region miRNA target site	10 gene(s)	Overlapped CNVs	n/a
30	rs377600618	chr7:27221281-27221282	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs77444786	chr7:27221305-27221306	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs367888889	chr7:27221306-27221307	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs528617847	chr7:27221307-27221308	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs562071494	chr7:27221324-27221325	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs374538002	chr7:27221325-27221326	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs17501084	chr7:27221331-27221332	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs543828909	chr7:27221341-27221342	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs563805866	chr7:27221372-27221373	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs574357418	chr7:27221428-27221429	Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region miRNA target site	4 gene(s)	Overlapped CNVs	n/a
40	rs17501090	chr7:27221454-27221455	Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs188759036	chr7:27221455-27221456	Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
42	rs191585043	chr7:27221456-27221457	Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
43	rs570795992	chr7:27221465-27221466	Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
44	rs148548092	chr7:27221475-27221476	Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
45	rs117834808	chr7:27221505-27221506	Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
46	rs142922642	chr7:27221523-27221524	Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
47	rs372347060	chr7:27221557-27221558	Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island	3 gene(s)	Overlapped CNVs	n/a
48	rs541622285	chr7:27221596-27221597	Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island	3 gene(s)	Overlapped CNVs	n/a
49	rs183830192	chr7:27221599-27221600	Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island	3 gene(s)	Overlapped CNVs	n/a
50	rs575213572	chr7:27221655-27221656	Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1934 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27219600-27221000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:27219800-27221000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:27219800-27221000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
4	chr7:27219800-27221200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
5	chr7:27219800-27221400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:27219800-27221800	Enhancers	NHDF-Ad	bronchial
7	chr7:27219800-27222600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:27219800-27222600	Bivalent Enhancer	Placenta	Placenta
9	chr7:27219800-27222600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
10	chr7:27219800-27223000	Weak transcription	Right Atrium	heart
11	chr7:27220000-27221200	Flanking Active TSS	Osteobl	bone
12	chr7:27220000-27222400	Enhancers	HSMMtube	muscle
13	chr7:27220200-27221800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:27220200-27222200	Weak transcription	Hela-S3	cervix
15	chr7:27220200-27222200	Enhancers	HUVEC	blood vessel
16	chr7:27220200-27222400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr7:27220200-27222400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:27220200-27222400	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr7:27220200-27222800	Weak transcription	Pancreas	Pancrea
20	chr7:27220600-27221000	Enhancers	HSMM	muscle
21	chr7:27220600-27221200	Active TSS	Fetal Kidney	kidney
22	chr7:27220600-27221400	Enhancers	Colonic Mucosa	Colon
23	chr7:27220600-27221400	Enhancers	Colon Smooth Muscle	Colon
24	chr7:27220600-27221600	Enhancers	Rectal Smooth Muscle	rectum
25	chr7:27220600-27223400	Weak transcription	A549	lung
26	chr7:27220800-27221000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
27	chr7:27220800-27221000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
28	chr7:27220800-27221200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:27220800-27222600	Bivalent Enhancer	Adipose Nuclei	Adipose
30	chr7:27221000-27221400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:27221000-27221400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr7:27221000-27221400	Weak transcription	HSMM	muscle
33	chr7:27221000-27221600	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr7:27221000-27222200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
35	chr7:27221200-27221400	Active TSS	Muscle Satellite Cultured Cells	--
36	chr7:27221200-27221400	Active TSS	Osteobl	bone
37	chr7:27221200-27221600	Bivalent/Poised TSS	Fetal Kidney	kidney
38	chr7:27221200-27222200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
39	chr7:27221200-27222400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:27221400-27221600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr7:27221400-27221600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr7:27221400-27221600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
43	chr7:27221400-27221600	Genic enhancers	HSMM	muscle
44	chr7:27221400-27222400	Flanking Active TSS	Colon Smooth Muscle	Colon
45	chr7:27221400-27222400	Transcr. at gene 5' and 3'	Osteobl	bone
46	chr7:27221400-27222600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
47	chr7:27221400-27222800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr7:27221400-27223000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:27221600-27221800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
50	chr7:27221600-27221800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell

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