Variant report

Variant	nsv887891
Chromosome Location	chr7:27223563-27264337
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:998)
CpG islands
(count:7209)
Chromatin interactive
region (count:84)
LncRNA
region (count:81)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:998 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:27250093-27250583	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:27235933-27236148	K562	blood:	n/a	n/a
3	ARID3A	chr7:27235883-27236161	HepG2	liver:	n/a	n/a
4	BACH1	chr7:27232517-27232527	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	chr7:27260279-27260534	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	chr7:27227265-27227448	H1-hESC	embryonic stem cell:	n/a	n/a
10	BATF	chr7:27261054-27261318	GM12878	blood:	n/a	chr7:27261189-27261200
11	BHLHE40	chr7:27235895-27236179	K562	blood:	n/a	n/a
12	BHLHE40	chr7:27231856-27231876	K562	blood:	n/a	n/a
13	BRCA1	chr7:27224633-27225033	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr7:27235896-27236189	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr7:27224835-27225034	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr7:27223603-27225196	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr7:27234488-27234960	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr7:27227908-27228108	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr7:27234683-27234883	HepG2	liver:	n/a	n/a
20	CEBPB	chr7:27249956-27250131	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD1	chr7:27228579-27228647	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD1	chr7:27250456-27250514	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD2	chr7:27223467-27225105	Hela-S3	cervix:	n/a	n/a
24	CHD2	chr7:27228537-27228906	Hela-S3	cervix:	n/a	n/a
25	CHD2	chr7:27239972-27240015	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr7:27224385-27224508	GM12878	blood:	n/a	n/a
27	CHD2	chr7:27227704-27227890	Hela-S3	cervix:	n/a	chr7:27227787-27227794
28	CHD2	chr7:27239642-27240298	Hela-S3	cervix:	n/a	n/a
29	CHD2	chr7:27231500-27231700	Hela-S3	cervix:	n/a	n/a
30	CHD2	chr7:27229515-27229589	Hela-S3	cervix:	n/a	n/a
31	CREB1	chr7:27250009-27250466	A549	lung:	n/a	n/a
32	CREB1	chr7:27223817-27224281	A549	lung:	n/a	n/a
33	CREB1	chr7:27232637-27233007	H1-hESC	embryonic stem cell:	n/a	chr7:27232728-27232741
34	CREB1	chr7:27239286-27240202	A549	lung:	n/a	n/a
35	CREB1	chr7:27223787-27224170	H1-hESC	embryonic stem cell:	n/a	n/a
36	CREB1	chr7:27223953-27224232	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTBP2	chr7:27238575-27239234	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTBP2	chr7:27252693-27253849	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTBP2	chr7:27223661-27224698	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTBP2	chr7:27224973-27226029	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTBP2	chr7:27244530-27245315	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTBP2	chr7:27239696-27240391	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTBP2	chr7:27241644-27242354	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTBP2	chr7:27227146-27228914	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTBP2	chr7:27230808-27233158	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr7:27235889-27236121	GM19238	blood:	n/a	n/a
47	CTCF	chr7:27250080-27250230	GM12867	blood:	n/a	n/a
48	CTCF	chr7:27249890-27250328	A549	lung:	n/a	n/a
49	CTCF	chr7:27235940-27236090	BE2_C	brain:	n/a	n/a
50	CTCF	chr7:27250120-27250270	WERI-Rb-1	eye:	n/a	n/a

(count:7209 , 50 per page) page: 1 2 3 4 5 6 7 ... 145

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:27245018-27245068	NHDF-neo	bronchial:	n/a
2	chr7:27228627-27228677	HPAEpiC	pulmonary alveolar:	n/a
3	chr7:27237893-27237943	NHBE	bronchial:	n/a
4	chr7:27225078-27225128	NH-A	brain:	n/a
5	chr7:27225058-27225108	HPAEpiC	pulmonary alveolar:	n/a
6	chr7:27245747-27245797	NHDF-neo	bronchial:	n/a
7	chr7:27225143-27225193	H1-hESC	embryonic stem cell:	embryo
8	chr7:27232635-27232685	Hepatocyte	liver:	n/a
9	chr7:27225523-27225573	NHDF-neo	bronchial:	n/a
10	chr7:27239701-27239751	HAEpiC	amniotic membrane:	n/a
11	chr7:27245018-27245068	PANC-1	pancreas:	n/a
12	chr7:27245018-27245068	NHDF-neo	bronchial:	n/a
13	chr7:27228627-27228677	HPAEpiC	pulmonary alveolar:	n/a
14	chr7:27237893-27237943	NHBE	bronchial:	n/a
15	chr7:27225078-27225128	NH-A	brain:	n/a
16	chr7:27225058-27225108	HPAEpiC	pulmonary alveolar:	n/a
17	chr7:27245747-27245797	NHDF-neo	bronchial:	n/a
18	chr7:27225143-27225193	H1-hESC	embryonic stem cell:	embryo
19	chr7:27232635-27232685	Hepatocyte	liver:	n/a
20	chr7:27225523-27225573	NHDF-neo	bronchial:	n/a
21	chr7:27239701-27239751	HAEpiC	amniotic membrane:	n/a
22	chr7:27245018-27245068	PANC-1	pancreas:	n/a
23	chr7:27241203-27241253	BJ	skin:	n/a
24	chr7:27223692-27223742	GM06990	blood:	n/a
25	chr7:27233141-27233191	SK-N-SH	brain:	n/a
26	chr7:27225123-27225173	AG04450	lung:	fetal
27	chr7:27224343-27224393	AG10803	skin:	n/a
28	chr7:27251396-27251446	NHBE	bronchial:	n/a
29	chr7:27224460-27224510	LNCaP	prostate:	n/a
30	chr7:27225448-27225498	GM06990	blood:	n/a
31	chr7:27240251-27240301	HRE	kidney:	n/a
32	chr7:27225222-27225272	GM12891	blood:	n/a
33	chr7:27245542-27245592	ECC-1	luminal epithelium:	n/a
34	chr7:27243221-27243271	AG10803	skin:	n/a
35	chr7:27225772-27225822	Hepatocyte	liver:	n/a
36	chr7:27242161-27242211	HEK293	kidney:	embryo
37	chr7:27229163-27229213	AG04450	lung:	fetal
38	chr7:27251396-27251446	U87	brain:	n/a
39	chr7:27233141-27233191	HPAEpiC	pulmonary alveolar:	n/a
40	chr7:27243276-27243326	IMR90	lung:	fetal
41	chr7:27225476-27225526	ovcar-3	ovarian:	n/a
42	chr7:27232150-27232200	RPTEC	kidney:	n/a
43	chr7:27245542-27245592	HCM	heart:	n/a
44	chr7:27254071-27254121	HL-60	blood:	n/a
45	chr7:27225772-27225822	U87	brain:	n/a
46	chr7:27224460-27224510	HRPEpiC	eye:	n/a
47	chr7:27228112-27228162	SAEC	small airway:	n/a
48	chr7:27253834-27253884	SKMC	muscle:	n/a
49	chr7:27249651-27249701	GM12891	blood:	n/a
50	chr7:27258886-27258936	HCPEpiC	choroid plexus:	n/a

(count:84 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27252434..27254763-chr7:27262742..27265081,2	K562	blood:
2	chr17:41465557..41466203-chr7:27228171..27228943,2	Hela-S3	cervix:
3	chr1:155242577..155243301-chr7:27224203..27225069,2	Hela-S3	cervix:
4	chr7:27243864..27245407-chr7:27245936..27248869,2	MCF-7	breast:
5	chr15:91445636..91446244-chr7:27224618..27225247,2	Hela-S3	cervix:
6	chr7:27238374..27241248-chr7:27242830..27244547,2	MCF-7	breast:
7	chr15:72765696..72766554-chr7:27231377..27231936,2	Hela-S3	cervix:
8	chr7:27227905..27232079-chr7:27234974..27236957,3	K562	blood:
9	chr7:27223347..27224158-chr7:27231443..27231952,2	Hela-S3	cervix:
10	chr7:27258719..27260778-chr7:27263556..27265640,2	K562	blood:
11	chr7:27235576..27236377-chr7:27249896..27250620,2	MCF-7	breast:
12	7:27176959-27181770..7:27242351-27246403	H1-hESC	embryonic stem cell:	embryo
13	chr7:27249986..27250600-chr7:27615474..27616239,2	K562	blood:
14	chr2:86850155..86850837-chr7:27224722..27225222,2	Hela-S3	cervix:
15	chr7:27249641..27250652-chr7:28059662..28060583,3	K562	blood:
16	chr7:27235585..27236283-chr7:27615659..27616283,3	MCF-7	breast:
17	chr10:374998..375630-chr7:27224362..27225025,2	Hela-S3	cervix:
18	chr7:27249734..27250431-chr7:27274620..27275568,2	MCF-7	breast:
19	chr3:57582642..57583279-chr7:27228830..27229398,2	Hela-S3	cervix:
20	chr5:40834751..40835393-chr7:27227600..27228314,2	Hela-S3	cervix:
21	7:27203007-27207968..7:27242351-27246403	H1-hESC	embryonic stem cell:	embryo
22	chr7:27235919..27236503-chr7:27615711..27616568,3	K562	blood:
23	chr7:27252434..27254763-chr7:27262742..27265081,2	K562	blood:
24	chr16:1543000..1543574-chr7:27224359..27225213,2	Hela-S3	cervix:
25	7:27238414-27242313..7:27254455-27258099	H1-hESC	embryonic stem cell:	embryo
26	7:27242351-27246403..7:27282073-27287306	H1-hESC	embryonic stem cell:	embryo
27	chr22:43011194..43011998-chr7:27223577..27224147,2	Hela-S3	cervix:
28	chr5:33440961..33441526-chr7:27224543..27225088,2	Hela-S3	cervix:
29	chr7:27249672..27250374-chr7:27369354..27370262,2	MCF-7	breast:
30	7:27216170-27221403..7:27230275-27238414	H1-hESC	embryonic stem cell:	embryo
31	chr7:27212193..27213069-chr7:27224455..27225318,2	Hela-S3	cervix:
32	chr7:27235920..27236433-chr7:28117591..28118580,2	K562	blood:
33	7:27061277-27071265..7:27238414-27242313	Hela-S3	cervix:
34	chr7:27258719..27260778-chr7:27263556..27265640,2	K562	blood:
35	chr7:27235522..27236272-chr7:27960656..27961542,3	MCF-7	breast:
36	chr12:108079339..108079864-chr7:27224587..27225118,2	Hela-S3	cervix:
37	chr7:27235576..27236377-chr7:27249896..27250620,2	MCF-7	breast:
38	7:27162022-27164727..7:27238414-27242313	H1-hESC	embryonic stem cell:	embryo
39	chr7:27252709..27254576-chr7:27257498..27260537,3	MCF-7	breast:
40	chr7:27249622..27250574-chr7:27645090..27645963,4	MCF-7	breast:
41	chr7:27232082..27233586-chr7:27238989..27241639,2	MCF-7	breast:
42	7:27203007-27207968..7:27230275-27238414	H1-hESC	embryonic stem cell:	embryo
43	chr7:27224792..27226956-chr7:27228640..27230283,2	MCF-7	breast:
44	chr7:27249606..27250151-chr7:27618603..27619596,2	MCF-7	breast:
45	chr7:27225108..27225793-chrX:130036788..130037288,2	Hela-S3	cervix:
46	chr7:27217387..27221298-chr7:27222278..27226013,4	K562	blood:
47	chr7:27249606..27250450-chr7:28135997..28136804,2	MCF-7	breast:
48	chr7:27252709..27254576-chr7:27257498..27260537,3	MCF-7	breast:
49	chr7:27219637..27221411-chr7:27224788..27226339,2	K562	blood:
50	chr7:27263949..27265834-chr7:27269175..27271743,2	K562	blood:

(count:81 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EVX1-3	chr7:27244331-27246878	ENSG00000243766
2	lnc-EVX1-5	chr7:27228220-27228912	NONHSAT119710
3	lnc-EVX1-3	chr7:27240242-27241442	ENSG00000243766.3
4	lnc-EVX1-3	chr7:27240040-27240140	ENSG00000243766
5	lnc-EVX1-3	chr7:27241461-27242257	ENSG00000243766
6	lnc-EVX1-3	chr7:27240242-27240855	ENSG00000243766
7	lnc-EVX1-3	chr7:27240056-27240140	ENSG00000243766
8	lnc-EVX1-3	chr7:27240242-27240855	ENSG00000243766
9	lnc-EVX1-5	chr7:27228220-27228912	NONHSAT119712
10	lnc-EVX1-3	chr7:27240242-27242441	ENSG00000243766
11	lnc-EVX1-3	chr7:27240242-27241442	ENSG00000243766.3
12	lnc-HOXA13-3	chr7:27234405-27235219	NONHSAT119713
13	lnc-EVX1-5	chr7:27225027-27225882	XLOC_006025
14	lnc-EVX1-3	chr7:27240242-27240855	ENSG00000243766
15	lnc-HOXA13-1	chr7:27232227-27232305	XLOC_006390
16	lnc-EVX1-3	chr7:27241649-27242257	ENSG00000253769
17	lnc-HOXA13-4	chr7:27247349-27247372	NONHSAT119719
18	lnc-EVX1-3	chr7:27244331-27246878	NR_037843
19	lnc-EVX1-3	chr7:27244331-27246878	ENSG00000243766
20	lnc-EVX1-5	chr7:27227693-27228912	NONHSAT119711
21	lnc-EVX1-5	chr7:27225153-27225882	ENSG00000240990.4
22	lnc-EVX1-3	chr7:27240242-27241306	ENSG00000243766
23	lnc-EVX1-5	chr7:27228220-27228912	XLOC_006025
24	lnc-EVX1-3	chr7:27240242-27242441	ENSG00000243766
25	lnc-EVX1-3	chr7:27240242-27241442	ENSG00000243766.3
26	lnc-EVX1-5	chr7:27227648-27227872	NONHSAT119710
27	lnc-EVX1-2	chr7:27255062-27255127	XLOC_006027
28	lnc-EVX1-5	chr7:27226302-27226488	XLOC_006025
29	lnc-EVX1-3	chr7:27241461-27242257	ENSG00000243766
30	lnc-EVX1-3	chr7:27240056-27240140	ENSG00000243766.3
31	lnc-EVX1-3	chr7:27244331-27246878	ENSG00000253769
32	lnc-EVX1-3	chr7:27240242-27240855	ENSG00000243766
33	lnc-EVX1-3	chr7:27240242-27242257	NR_037843
34	lnc-HOXA13-2	chr7:27232763-27233067	ENSG00000253508.1
35	lnc-EVX1-3	chr7:27240242-27242441	ENSG00000243766
36	lnc-EVX1-3	chr7:27240242-27241442	ENSG00000243766.3
37	lnc-EVX1-3	chr7:27244331-27246878	ENSG00000243766
38	lnc-EVX1-5	chr7:27228220-27228839	XLOC_006025
39	lnc-EVX1-3	chr7:27238194-27238360	ENSG00000243766
40	lnc-HOXA13-3	chr7:27233122-27233177	NONHSAT119713
41	lnc-EVX1-5	chr7:27227438-27227639	XLOC_006025
42	lnc-EVX1-3	chr7:27241461-27242257	ENSG00000243766
43	lnc-EVX1-3	chr7:27241461-27242257	ENSG00000243766
44	lnc-EVX1-2	chr7:27261147-27261329	XLOC_006027
45	lnc-EVX1-3	chr7:27240040-27240140	ENSG00000243766
46	lnc-EVX1-3	chr7:27241461-27242257	ENSG00000243766
47	lnc-EVX1-3	chr7:27240040-27240140	ENSG00000243766
48	lnc-EVX1-3	chr7:27240040-27240140	NR_037843
49	lnc-EVX1-3	chr7:27240056-27240140	ENSG00000243766
50	lnc-EVX1-3	chr7:27240242-27241306	ENSG00000243766

No data

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

Extended variants
information (count: 1546 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1546 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6968828	chr7:27223563-27223564	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs544850685	chr7:27223583-27223584	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs564656622	chr7:27223587-27223588	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs578174744	chr7:27223605-27223606	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs578183045	chr7:27223615-27223616	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs541797143	chr7:27223683-27223684	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs560588047	chr7:27223708-27223709	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs529282312	chr7:27223737-27223738	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs7801581	chr7:27223771-27223772	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs562464417	chr7:27223781-27223782	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs150153931	chr7:27223797-27223798	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs148277011	chr7:27223832-27223833	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs10256695	chr7:27223847-27223848	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs187648121	chr7:27223859-27223860	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs571099371	chr7:27223864-27223865	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs563645624	chr7:27223878-27223879	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs547178021	chr7:27223885-27223886	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs149334328	chr7:27223887-27223888	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs535881794	chr7:27223902-27223903	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs556093658	chr7:27223903-27223904	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs569608150	chr7:27223942-27223943	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs145437164	chr7:27223963-27223964	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs17472273	chr7:27223970-27223971	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs34836443	chr7:27224015-27224016	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs558438980	chr7:27224033-27224034	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs578220858	chr7:27224051-27224052	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs540781967	chr7:27224077-27224078	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs553990793	chr7:27224155-27224156	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs563595485	chr7:27224173-27224174	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs542683559	chr7:27224203-27224204	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs555913150	chr7:27224219-27224220	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs529422357	chr7:27224230-27224231	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs562527955	chr7:27224245-27224246	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs531539297	chr7:27224278-27224279	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs544898158	chr7:27224281-27224282	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs375344699	chr7:27224296-27224297	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs557720238	chr7:27224302-27224303	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs543102978	chr7:27224307-27224308	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs200850004	chr7:27224343-27224344	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
40	rs202065784	chr7:27224348-27224349	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
41	rs527502075	chr7:27224365-27224366	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
42	rs143812636	chr7:27224368-27224369	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
43	rs371593760	chr7:27224382-27224383	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
44	rs199544203	chr7:27224403-27224404	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
45	rs138305707	chr7:27224404-27224405	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
46	rs369311259	chr7:27224405-27224406	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
47	rs372937744	chr7:27224416-27224417	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
48	rs377286501	chr7:27224434-27224435	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
49	rs369491882	chr7:27224451-27224452	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
50	rs146591552	chr7:27224454-27224455	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	18 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:2204 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27222000-27226600	Bivalent/Poised TSS	Fetal Kidney	kidney
2	chr7:27222200-27223800	Flanking Active TSS	HUVEC	blood vessel
3	chr7:27222400-27223800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
4	chr7:27222400-27226200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
5	chr7:27222400-27226600	Active TSS	HSMMtube	muscle
6	chr7:27222600-27223600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
7	chr7:27222600-27223800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
8	chr7:27222600-27223800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:27222600-27223800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
10	chr7:27222600-27223800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
11	chr7:27222600-27223800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
12	chr7:27222600-27224000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
13	chr7:27222600-27224000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
14	chr7:27222600-27224000	Flanking Bivalent TSS/Enh	Placenta	Placenta
15	chr7:27222600-27224000	Bivalent Enhancer	Left Ventricle	heart
16	chr7:27222600-27224000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
17	chr7:27222600-27224800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:27222600-27225000	Active TSS	HSMM	muscle
19	chr7:27222600-27226200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:27222600-27226200	Bivalent/Poised TSS	Small Intestine	intestine
21	chr7:27222600-27226400	Active TSS	NHDF-Ad	bronchial
22	chr7:27222800-27223600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:27222800-27223600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
24	chr7:27222800-27223600	Bivalent Enhancer	Brain Hippocampus Middle	brain
25	chr7:27222800-27223800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
26	chr7:27222800-27223800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
27	chr7:27222800-27223800	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
28	chr7:27222800-27224000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
29	chr7:27222800-27224200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
30	chr7:27222800-27224200	Bivalent/Poised TSS	Colonic Mucosa	Colon
31	chr7:27222800-27224200	Enhancers	Pancreas	Pancrea
32	chr7:27222800-27224600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:27222800-27225400	Enhancers	Lung	lung
34	chr7:27222800-27225600	Bivalent Enhancer	Spleen	Spleen
35	chr7:27222800-27225800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
36	chr7:27222800-27225800	Bivalent Enhancer	Fetal Stomach	stomach
37	chr7:27222800-27225800	Active TSS	Osteobl	bone
38	chr7:27222800-27226200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:27223000-27223600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:27223000-27223600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
41	chr7:27223000-27223600	Enhancers	Right Ventricle	heart
42	chr7:27223000-27223600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
43	chr7:27223000-27223600	Flanking Bivalent TSS/Enh	HepG2	liver
44	chr7:27223000-27223600	Bivalent Enhancer	HMEC	breast
45	chr7:27223000-27223600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
46	chr7:27223000-27223800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:27223000-27223800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
48	chr7:27223000-27223800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr7:27223000-27223800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
50	chr7:27223000-27223800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain

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