Variant report

Variant	nsv887887
Chromosome Location	chr7:27217359-27252246
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1334)
CpG islands
(count:7148)
Chromatin interactive
region (count:87)
LncRNA
region (count:79)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:1334 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:27219353-27219704	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:27250093-27250583	HepG2	liver:	n/a	n/a
3	ARID3A	chr7:27235883-27236161	HepG2	liver:	n/a	n/a
4	ARID3A	chr7:27235933-27236148	K562	blood:	n/a	n/a
5	BACH1	chr7:27227265-27227448	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr7:27232517-27232527	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr7:27239932-27239942	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr7:27251570-27251658	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr7:27232791-27232804	H1-hESC	embryonic stem cell:	n/a	n/a
10	BHLHE40	chr7:27219467-27219584	K562	blood:	n/a	n/a
11	BHLHE40	chr7:27231856-27231876	K562	blood:	n/a	n/a
12	BHLHE40	chr7:27235895-27236179	K562	blood:	n/a	n/a
13	BRCA1	chr7:27219354-27219640	H1-hESC	embryonic stem cell:	n/a	n/a
14	BRCA1	chr7:27235896-27236189	H1-hESC	embryonic stem cell:	n/a	n/a
15	BRCA1	chr7:27224633-27225033	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr7:27219260-27219702	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr7:27234683-27234883	HepG2	liver:	n/a	n/a
18	CEBPB	chr7:27223603-27225196	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr7:27224835-27225034	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr7:27219083-27219635	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr7:27227908-27228108	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr7:27249956-27250131	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr7:27234488-27234960	Hela-S3	cervix:	n/a	n/a
24	CHD1	chr7:27228579-27228647	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD1	chr7:27250456-27250514	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr7:27239642-27240298	Hela-S3	cervix:	n/a	n/a
27	CHD2	chr7:27227704-27227890	Hela-S3	cervix:	n/a	chr7:27227787-27227794
28	CHD2	chr7:27224385-27224508	GM12878	blood:	n/a	n/a
29	CHD2	chr7:27229515-27229589	Hela-S3	cervix:	n/a	n/a
30	CHD2	chr7:27222908-27223033	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr7:27219203-27219556	HepG2	liver:	n/a	n/a
32	CHD2	chr7:27228537-27228906	Hela-S3	cervix:	n/a	n/a
33	CHD2	chr7:27223467-27225105	Hela-S3	cervix:	n/a	n/a
34	CHD2	chr7:27219271-27219558	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD2	chr7:27239972-27240015	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD2	chr7:27231500-27231700	Hela-S3	cervix:	n/a	n/a
37	CHD2	chr7:27223001-27223133	Hela-S3	cervix:	n/a	n/a
38	CHD2	chr7:27219172-27219691	Hela-S3	cervix:	n/a	n/a
39	CREB1	chr7:27223953-27224232	H1-hESC	embryonic stem cell:	n/a	n/a
40	CREB1	chr7:27239286-27240202	A549	lung:	n/a	n/a
41	CREB1	chr7:27250009-27250466	A549	lung:	n/a	n/a
42	CREB1	chr7:27232637-27233007	H1-hESC	embryonic stem cell:	n/a	chr7:27232728-27232741
43	CREB1	chr7:27223787-27224170	H1-hESC	embryonic stem cell:	n/a	n/a
44	CREB1	chr7:27223817-27224281	A549	lung:	n/a	n/a
45	CREB1	chr7:27219370-27219866	A549	lung:	n/a	n/a
46	CTBP2	chr7:27222597-27223358	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTBP2	chr7:27238575-27239234	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTBP2	chr7:27241644-27242354	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTBP2	chr7:27224973-27226029	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTBP2	chr7:27219222-27219673	H1-hESC	embryonic stem cell:	n/a	n/a

(count:7148 , 50 per page) page: 1 2 3 4 5 6 7 ... 143

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:27240758-27240808	NT2-D1	testis:	n/a
2	chr7:27223692-27223742	SAEC	small airway:	n/a
3	chr7:27220983-27221033	ovcar-3	ovarian:	n/a
4	chr7:27227847-27227897	HCF	heart:	n/a
5	chr7:27238279-27238329	MCF10A-Er-Src	breast:	n/a
6	chr7:27219704-27219754	AG09319	gingival:	n/a
7	chr7:27224092-27224142	SK-N-SH_RA	brain:	n/a
8	chr7:27230252-27230302	SKMC	muscle:	n/a
9	chr7:27243463-27243513	HRCEpiC	kidney:	n/a
10	chr7:27239728-27239778	SAEC	small airway:	n/a
11	chr7:27220398-27220448	K562	blood:	n/a
12	chr7:27240758-27240808	NT2-D1	testis:	n/a
13	chr7:27223692-27223742	SAEC	small airway:	n/a
14	chr7:27220983-27221033	ovcar-3	ovarian:	n/a
15	chr7:27227847-27227897	HCF	heart:	n/a
16	chr7:27238279-27238329	MCF10A-Er-Src	breast:	n/a
17	chr7:27219704-27219754	AG09319	gingival:	n/a
18	chr7:27224092-27224142	SK-N-SH_RA	brain:	n/a
19	chr7:27230252-27230302	SKMC	muscle:	n/a
20	chr7:27243463-27243513	HRCEpiC	kidney:	n/a
21	chr7:27239728-27239778	SAEC	small airway:	n/a
22	chr7:27220398-27220448	K562	blood:	n/a
23	chr7:27231491-27231541	PrEC	prostate:	n/a
24	chr7:27224954-27225004	HCF	heart:	n/a
25	chr7:27237893-27237943	PFSK-1	brain:	n/a
26	chr7:27230252-27230302	HRE	kidney:	n/a
27	chr7:27225078-27225128	HPAEpiC	pulmonary alveolar:	n/a
28	chr7:27225772-27225822	HRPEpiC	eye:	n/a
29	chr7:27223219-27223269	HCPEpiC	choroid plexus:	n/a
30	chr7:27240251-27240301	BJ	skin:	n/a
31	chr7:27226329-27226379	PANC-1	pancreas:	n/a
32	chr7:27221689-27221739	GM12891	blood:	n/a
33	chr7:27243221-27243271	HCT-116	colon:	n/a
34	chr7:27225058-27225108	AG10803	skin:	n/a
35	chr7:27240181-27240231	HMEC	breast:	n/a
36	chr7:27246799-27246849	SAEC	small airway:	n/a
37	chr7:27232547-27232597	GM19239	blood:	n/a
38	chr7:27219516-27219566	ovcar-3	ovarian:	n/a
39	chr7:27231894-27231944	SK-N-SH	brain:	n/a
40	chr7:27231204-27231254	RPTEC	kidney:	n/a
41	chr7:27220983-27221033	HRE	kidney:	n/a
42	chr7:27250204-27250254	SK-N-SH_RA	brain:	n/a
43	chr7:27223692-27223742	Hela-S3	cervix:	n/a
44	chr7:27219344-27219394	A549	lung:	n/a
45	chr7:27231819-27231869	ovcar-3	ovarian:	n/a
46	chr7:27231894-27231944	SAEC	small airway:	n/a
47	chr7:27239728-27239778	GM12892	blood:	n/a
48	chr7:27249651-27249701	HCPEpiC	choroid plexus:	n/a
49	chr7:27218867-27218917	K562	blood:	n/a
50	chr7:27224343-27224393	Hela-S3	cervix:	n/a

(count:87 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:27162022-27164727..7:27216170-27221403	H1-hESC	embryonic stem cell:	embryo
2	chr7:27235712..27236549-chr7:28059093..28059975,2	K562	blood:
3	chr7:27219637..27221411-chr7:27224788..27226339,2	K562	blood:
4	chr16:1543000..1543574-chr7:27224359..27225213,2	Hela-S3	cervix:
5	chr7:27235744..27236310-chr7:27250561..27251376,2	K562	blood:
6	chr1:155242577..155243301-chr7:27224203..27225069,2	Hela-S3	cervix:
7	chr15:72409969..72410917-chr7:27223870..27224480,2	Hela-S3	cervix:
8	chr7:27230195..27232875-chr7:27232940..27235804,2	MCF-7	breast:
9	chr1:145382445..145384659-chr7:27230389..27233272,2	K562	blood:
10	chr17:41465557..41466203-chr7:27228171..27228943,2	Hela-S3	cervix:
11	chr12:54673872..54674764-chr7:27224674..27225242,2	Hela-S3	cervix:
12	chr3:57582642..57583279-chr7:27228830..27229398,2	Hela-S3	cervix:
13	chr7:27219009..27219512-chr9:131314414..131315243,2	Hela-S3	cervix:
14	chr7:27235585..27236283-chr7:27615659..27616283,3	MCF-7	breast:
15	chr7:27212193..27213069-chr7:27224455..27225318,2	Hela-S3	cervix:
16	chr15:91445636..91446244-chr7:27224618..27225247,2	Hela-S3	cervix:
17	chr12:108079339..108079864-chr7:27224587..27225118,2	Hela-S3	cervix:
18	chr1:150551670..150552244-chr7:27228380..27229287,2	Hela-S3	cervix:
19	7:27176959-27181770..7:27242351-27246403	H1-hESC	embryonic stem cell:	embryo
20	chr7:27249641..27250652-chr7:28059662..28060583,3	K562	blood:
21	chr5:133561410..133562167-chr7:27224339..27224947,2	Hela-S3	cervix:
22	chr7:27235744..27236310-chr7:27250561..27251376,2	K562	blood:
23	chr7:27249672..27250374-chr7:27369354..27370262,2	MCF-7	breast:
24	chr22:43010791..43011430-chr7:27224571..27225361,2	Hela-S3	cervix:
25	chr7:27249986..27250600-chr7:27615474..27616239,2	K562	blood:
26	chr11:67272436..67272949-chr7:27218842..27219378,2	Hela-S3	cervix:
27	chr7:27235920..27236433-chr7:28117591..28118580,2	K562	blood:
28	7:27165488-27167947..7:27230275-27238414	H1-hESC	embryonic stem cell:	embryo
29	7:27203007-27207968..7:27230275-27238414	H1-hESC	embryonic stem cell:	embryo
30	chr2:38604107..38604660-chr7:27218731..27219582,2	Hela-S3	cervix:
31	chr22:43011194..43011998-chr7:27223577..27224147,2	Hela-S3	cervix:
32	chr7:27217387..27221298-chr7:27222278..27226013,4	K562	blood:
33	chr10:374998..375630-chr7:27224362..27225025,2	Hela-S3	cervix:
34	7:27216170-27221403..7:27230275-27238414	H1-hESC	embryonic stem cell:	embryo
35	chr12:52446489..52447790-chr7:27223647..27224601,3	Hela-S3	cervix:
36	7:27061277-27071265..7:27238414-27242313	Hela-S3	cervix:
37	chr7:27232082..27233586-chr7:27238989..27241639,2	MCF-7	breast:
38	chr2:86850155..86850837-chr7:27224722..27225222,2	Hela-S3	cervix:
39	chr16:28936926..28937926-chr7:27216897..27217638,2	Hela-S3	cervix:
40	chr7:27243864..27245407-chr7:27245936..27248869,2	MCF-7	breast:
41	chr7:27242300..27244801-chr7:27959230..27961125,2	MCF-7	breast:
42	chr15:72765696..72766554-chr7:27231377..27231936,2	Hela-S3	cervix:
43	chr7:27213270..27217080-chr7:27217116..27219781,5	MCF-7	breast:
44	chr2:190648522..190649281-chr7:27224530..27225300,2	Hela-S3	cervix:
45	chr7:27217387..27221298-chr7:27222278..27226013,4	K562	blood:
46	chr7:27232082..27233586-chr7:27238989..27241639,2	MCF-7	breast:
47	7:27216170-27221403..7:27230275-27238414	H1-hESC	embryonic stem cell:	embryo
48	chr7:27249606..27250450-chr7:28135997..28136804,2	MCF-7	breast:
49	chr5:33440961..33441526-chr7:27224543..27225088,2	Hela-S3	cervix:
50	chr7:27249734..27250431-chr7:27274620..27275568,2	MCF-7	breast:

(count:79 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HOXA13-2	chr7:27232763-27233067	ENSG00000253508.1
2	lnc-EVX1-5	chr7:27227648-27227872	NONHSAT119710
3	lnc-EVX1-3	chr7:27240242-27241306	ENSG00000243766
4	lnc-HOXA13-1	chr7:27226866-27231685	XLOC_006390
5	lnc-EVX1-3	chr7:27244331-27246878	NR_037843
6	lnc-EVX1-3	chr7:27240040-27240140	NR_037843
7	lnc-EVX1-5	chr7:27228220-27228912	NONHSAT119710
8	lnc-EVX1-3	chr7:27240242-27241306	ENSG00000243766
9	lnc-EVX1-3	chr7:27240056-27240140	ENSG00000243766.3
10	lnc-EVX1-3	chr7:27240040-27240140	ENSG00000243766
11	lnc-HOXA13-4	chr7:27245387-27246119	NONHSAT119719
12	lnc-HOXA13-3	chr7:27233122-27233177	NONHSAT119713
13	lnc-EVX1-3	chr7:27240056-27240140	ENSG00000243766.3
14	lnc-EVX1-3	chr7:27241649-27242257	ENSG00000253769
15	lnc-EVX1-3	chr7:27241461-27242257	ENSG00000243766
16	lnc-HOXA13-4	chr7:27247349-27247372	NONHSAT119719
17	lnc-HOXA13-2	chr7:27226192-27226442	ENSG00000253508.1
18	lnc-EVX1-3	chr7:27244331-27246878	ENSG00000243766
19	lnc-EVX1-3	chr7:27240242-27242257	NR_037843
20	lnc-EVX1-3	chr7:27240242-27241442	ENSG00000243766.3
21	lnc-EVX1-3	chr7:27238194-27238360	ENSG00000243766
22	lnc-EVX1-3	chr7:27240242-27242441	ENSG00000243766
23	lnc-EVX1-3	chr7:27244331-27246878	ENSG00000243766
24	lnc-EVX1-3	chr7:27240056-27240140	ENSG00000243766
25	lnc-HOXA11-1	chr7:27235769-27235994	NONHSAT119714
26	lnc-EVX1-3	chr7:27240040-27240140	ENSG00000243766
27	lnc-EVX1-5	chr7:27227438-27227639	XLOC_006025
28	lnc-EVX1-3	chr7:27241461-27242257	ENSG00000243766
29	lnc-EVX1-3	chr7:27240242-27242441	ENSG00000243766
30	lnc-EVX1-3	chr7:27240056-27240140	ENSG00000243766
31	lnc-EVX1-3	chr7:27240242-27241306	ENSG00000243766
32	lnc-EVX1-5	chr7:27228220-27228839	XLOC_006025
33	lnc-EVX1-5	chr7:27225027-27225882	XLOC_006025
34	lnc-EVX1-3	chr7:27240056-27240140	ENSG00000243766
35	lnc-EVX1-3	chr7:27240242-27242441	ENSG00000243766
36	lnc-EVX1-3	chr7:27241461-27242257	ENSG00000243766
37	lnc-EVX1-3	chr7:27240242-27240855	ENSG00000243766
38	lnc-EVX1-3	chr7:27240040-27240140	ENSG00000243766
39	lnc-EVX1-5	chr7:27225032-27225251	ENSG00000240990.4
40	lnc-EVX1-3	chr7:27240242-27240855	ENSG00000243766
41	lnc-EVX1-3	chr7:27238194-27238360	ENSG00000243766
42	lnc-EVX1-3	chr7:27240056-27240140	ENSG00000243766.3
43	lnc-EVX1-3	chr7:27241461-27242257	ENSG00000243766
44	lnc-EVX1-5	chr7:27226302-27226488	XLOC_006025
45	lnc-EVX1-3	chr7:27240056-27240140	ENSG00000243766.3
46	lnc-HOXA13-1	chr7:27232227-27232305	XLOC_006390
47	lnc-EVX1-3	chr7:27240242-27241442	ENSG00000243766.3
48	lnc-EVX1-3	chr7:27244331-27246878	ENSG00000243766
49	lnc-EVX1-3	chr7:27238194-27238360	ENSG00000243766
50	lnc-EVX1-3	chr7:27240242-27241306	ENSG00000243766

No data

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

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

Variant related genes	Relation type
HOXA11-AS	TF binding region
HOXA11	TF binding region
ENSG00000253508	TF binding region
HOTTIP	TF binding region
HOXA10	TF binding region
ENSG00000257184	TF binding region
HOXA13	TF binding region
HOXA11-AS	CpG island
HOXA11	CpG island
ENSG00000253508	CpG island
HOTTIP	CpG island
HOXA10	CpG island
ENSG00000257184	CpG island
HOXA13	CpG island
ENSG00000177548	chromatin interactions
ENSG00000166192	chromatin interactions
ENSG00000165675	chromatin interactions
ENSG00000100726	chromatin interactions
ENSG00000105997	chromatin interactions
ENSG00000100227	chromatin interactions
ENSG00000081154	chromatin interactions
ENSG00000105991	chromatin interactions
ENSG00000266751	chromatin interactions
ENSG00000214869	chromatin interactions
ENSG00000110697	chromatin interactions
ENSG00000168374	chromatin interactions
ENSG00000257184	chromatin interactions
ENSG00000253293	chromatin interactions
ENSG00000196547	chromatin interactions
ENSG00000136045	chromatin interactions
ENSG00000106049	chromatin interactions
ENSG00000134283	chromatin interactions
ENSG00000228395	chromatin interactions
ENSG00000203804	chromatin interactions
ENSG00000266055	chromatin interactions
ENSG00000239305	chromatin interactions
ENSG00000151240	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000153814	chromatin interactions
ENSG00000233429	chromatin interactions
ENSG00000253508	chromatin interactions
ENSG00000253552	chromatin interactions
ENSG00000119787	chromatin interactions
ENSG00000253405	chromatin interactions
ENSG00000106006	chromatin interactions
ENSG00000143384	chromatin interactions
ENSG00000270022	chromatin interactions
ENSG00000240990	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000158710	chromatin interactions
ENSG00000106004	chromatin interactions
ENSG00000270177	chromatin interactions
ENSG00000113407	chromatin interactions
ENSG00000272801	chromatin interactions
ENSG00000066933	chromatin interactions
ENSG00000005073	chromatin interactions
ENSG00000078399	chromatin interactions
ENSG00000064933	chromatin interactions
ENSG00000094916	chromatin interactions
ENSG00000243766	chromatin interactions
ENSG00000106031	chromatin interactions
ENSG00000176444	chromatin interactions
ENSG00000254369	chromatin interactions
ENSG00000197694	chromatin interactions
ENSG00000261423	chromatin interactions
ENSG00000145592	chromatin interactions
ENSG00000106038	chromatin interactions
ENSG00000128699	chromatin interactions
ENSG00000272772	chromatin interactions
ENSG00000135486	chromatin interactions
ENSG00000273433	chromatin interactions
ENSG00000139168	chromatin interactions
ENSG00000113575	chromatin interactions
HOXA11	lncRNA
HOXA7	lncRNA
HOXA10	lncRNA
HOXA9	lncRNA
HOXA13	lncRNA
TMTC3	miRNA target sites
OSBPL9	miRNA target sites
PLAG1	miRNA target sites
TBC1D1	miRNA target sites

Extended variants
information (count: 1426 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1426 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6970537	chr7:27217359-27217360	Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs573356408	chr7:27217362-27217363	Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs536267604	chr7:27217364-27217365	Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs555855337	chr7:27217392-27217393	Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs528640396	chr7:27217531-27217532	Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs555744725	chr7:27217544-27217545	Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs184335542	chr7:27217560-27217561	Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs17472224	chr7:27217572-27217573	Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs548691165	chr7:27217580-27217581	Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs188640415	chr7:27217581-27217582	Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs578223107	chr7:27217601-27217602	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs540781379	chr7:27217686-27217687	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs144158576	chr7:27217689-27217690	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs569163456	chr7:27217700-27217701	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs17437467	chr7:27217711-27217712	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs534647665	chr7:27217724-27217725	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs7806799	chr7:27217746-27217747	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs17472231	chr7:27217769-27217770	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs551377958	chr7:27217793-27217794	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs577686714	chr7:27217801-27217802	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs148235084	chr7:27217854-27217855	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs533741701	chr7:27217882-27217883	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs547163406	chr7:27217963-27217964	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs567040751	chr7:27217990-27217991	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs535951805	chr7:27217995-27217996	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs28357153	chr7:27218018-27218019	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs556169058	chr7:27218117-27218118	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs575935746	chr7:27218132-27218133	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs75251682	chr7:27218142-27218143	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs74367705	chr7:27218150-27218151	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs111336179	chr7:27218174-27218175	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs558490371	chr7:27218177-27218178	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs1859163	chr7:27218229-27218230	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs540843098	chr7:27218260-27218261	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs560652535	chr7:27218286-27218287	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs576278488	chr7:27218296-27218297	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs574107237	chr7:27218306-27218307	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs371739817	chr7:27218308-27218309	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs374851505	chr7:27218319-27218320	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs542752854	chr7:27218320-27218321	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs186971043	chr7:27218369-27218370	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs34350796	chr7:27218386-27218387	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs1859164	chr7:27218419-27218420	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs562081851	chr7:27218421-27218422	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs527960034	chr7:27218459-27218460	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs1859165	chr7:27218468-27218469	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs375041106	chr7:27218478-27218479	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs564859886	chr7:27218553-27218554	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs527549409	chr7:27218560-27218561	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs17471590	chr7:27218564-27218565	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Breast cancer	22522925	CNVD

Chromatin state (count:2353 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27209200-27219800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr7:27211000-27217600	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:27213400-27218800	Weak transcription	A549	lung
4	chr7:27213600-27219200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr7:27214000-27217600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
6	chr7:27214000-27218400	Flanking Active TSS	HUVEC	blood vessel
7	chr7:27214000-27219400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:27214200-27217600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
9	chr7:27214200-27217800	Flanking Active TSS	Osteobl	bone
10	chr7:27214400-27219200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:27214800-27220000	Active TSS	Colon Smooth Muscle	Colon
12	chr7:27215000-27217600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr7:27215000-27219000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
14	chr7:27215000-27220400	Active TSS	Fetal Kidney	kidney
15	chr7:27215200-27217800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr7:27215200-27217800	Flanking Active TSS	HSMMtube	muscle
17	chr7:27215200-27219800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:27215800-27218200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:27216000-27217800	Enhancers	Adipose Nuclei	Adipose
20	chr7:27216000-27218400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:27216000-27218800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:27216000-27220000	Active TSS	Rectal Smooth Muscle	rectum
23	chr7:27216200-27218600	Weak transcription	Hela-S3	cervix
24	chr7:27216400-27219800	Active TSS	NHDF-Ad	bronchial
25	chr7:27216400-27220200	Active TSS	HSMM	muscle
26	chr7:27216600-27217800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
27	chr7:27216600-27217800	Enhancers	Psoas Muscle	Psoas
28	chr7:27216600-27220000	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr7:27216800-27219000	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr7:27217000-27219000	Active TSS	Colonic Mucosa	Colon
31	chr7:27217000-27219600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:27217000-27219800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:27217200-27219000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
34	chr7:27217400-27217800	Bivalent/Poised TSS	Placenta	Placenta
35	chr7:27217600-27219000	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr7:27217600-27219000	Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr7:27217600-27219800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:27217600-27219800	Active TSS	Muscle Satellite Cultured Cells	--
39	chr7:27217800-27218000	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr7:27217800-27218000	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
41	chr7:27217800-27218000	Active TSS	HSMMtube	muscle
42	chr7:27217800-27218600	Weak transcription	Psoas Muscle	Psoas
43	chr7:27217800-27219000	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr7:27217800-27220000	Active TSS	Osteobl	bone
45	chr7:27218000-27218200	Enhancers	Adipose Nuclei	Adipose
46	chr7:27218000-27218200	Flanking Active TSS	HSMMtube	muscle
47	chr7:27218000-27218400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
48	chr7:27218000-27219800	Bivalent/Poised TSS	Small Intestine	intestine
49	chr7:27218200-27218800	Active TSS	Adipose Nuclei	Adipose
50	chr7:27218200-27219000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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