Variant report

Variant	rs10277447
Chromosome Location	chr7:99006763-99006764
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:99004959-99007064	PFSK-1	brain:	n/a	n/a
2	IRF1	chr7:99006037-99007040	K562	blood:	n/a	n/a
3	E2F4	chr7:99006279-99007096	MCF10A-Er-Src	breast:	n/a	chr7:99006346-99006355
4	POU2F2	chr7:99006098-99006922	GM12878	blood:	n/a	n/a
5	MXI1	chr7:99005332-99007193	HepG2	liver:	n/a	chr7:99006650-99006665 chr7:99006652-99006667
6	MAX	chr7:99005308-99006963	HepG2	liver:	n/a	n/a
7	RELA	chr7:99005960-99007025	GM18505	blood:	n/a	n/a
8	MAX	chr7:99005267-99006859	ECC-1	luminal epithelium:	n/a	n/a
9	TCF12	chr7:99006057-99006783	A549	lung:	n/a	n/a
10	POU2F2	chr7:99006224-99006775	GM12878	blood:	n/a	n/a
11	PML	chr7:99005413-99007342	GM12878	blood:	n/a	chr7:99005829-99005838
12	SIN3AK20	chr7:99006224-99007027	A549	lung:	n/a	n/a
13	SP1	chr7:99006000-99006881	A549	lung:	n/a	chr7:99006530-99006541 chr7:99006532-99006541
14	ETS1	chr7:99005972-99006806	GM12878	blood:	n/a	chr7:99006441-99006450 chr7:99006224-99006233 chr7:99006266-99006277 chr7:99006223-99006232 chr7:99006224-99006233 chr7:99006434-99006450 chr7:99006222-99006231 chr7:99006437-99006453 chr7:99006441-99006450 chr7:99006224-99006233 chr7:99006441-99006450 chr7:99006441-99006450 chr7:99006224-99006233 chr7:99006441-99006450 chr7:99006438-99006451 chr7:99006224-99006233 chr7:99006441-99006450 chr7:99006441-99006450 chr7:99006442-99006452
15	TAF1	chr7:99005543-99007027	H1-hESC	embryonic stem cell:	n/a	n/a
16	KAP1	chr7:99006294-99006784	U2OS	brain:	n/a	n/a
17	ATF2	chr7:99006017-99007018	GM12878	blood:	n/a	n/a
18	CHD2	chr7:99006267-99006920	K562	blood:	n/a	n/a
19	GATA1	chr7:99005955-99007310	PBDE	blood:	n/a	n/a
20	ELF1	chr7:99005872-99006873	GM12878	blood:	n/a	chr7:99006222-99006233 chr7:99006437-99006450 chr7:99006266-99006275 chr7:99006265-99006277 chr7:99006667-99006679
21	GTF2F1	chr7:99006291-99006832	Hela-S3	cervix:	n/a	n/a
22	TEAD4	chr7:99006219-99006845	HepG2	liver:	n/a	n/a
23	POLR2A	chr7:99005975-99006820	HepG2	liver:	n/a	n/a
24	SMARCC1	chr7:99005369-99007295	Hela-S3	cervix:	n/a	chr7:99005830-99005839
25	POLR2A	chr7:99005506-99007025	K562	blood:	n/a	n/a
26	NFIC	chr7:99006216-99006777	HepG2	liver:	n/a	n/a
27	POLR2A	chr7:99003969-99007015	SK-N-MC	brain:	n/a	n/a
28	CEBPB	chr7:99006159-99006781	A549	lung:	n/a	chr7:99006509-99006520
29	UBTF	chr7:99006006-99007121	K562	blood:	n/a	n/a
30	MYBL2	chr7:99006088-99006863	HepG2	liver:	n/a	n/a
31	POLR2A	chr7:99005543-99006863	HepG2	liver:	n/a	n/a
32	POLR2A	chr7:99005614-99006935	MCF-7	breast:	n/a	n/a
33	POLR2A	chr7:99006048-99007030	GM12878	blood:	n/a	n/a
34	POLR2A	chr7:99005610-99006887	GM18951	blood:	n/a	n/a
35	TAF1	chr7:99006055-99006895	Hela-S3	cervix:	n/a	n/a
36	SIN3AK20	chr7:99005123-99007151	MCF-7	breast:	n/a	n/a
37	YY1	chr7:99005797-99006832	SK-N-SH_RA	brain:	n/a	chr7:99006260-99006274 chr7:99005800-99005814 chr7:99006261-99006275 chr7:99006266-99006277 chr7:99006266-99006275
38	RCOR1	chr7:99006048-99006957	K562	blood:	n/a	n/a
39	POLR2A	chr7:99005575-99006902	Raji	blood:	n/a	n/a
40	POLR2A	chr7:99005187-99007322	GM12892	blood:	n/a	n/a
41	YY1	chr7:99005917-99006844	SK-N-SH_RA	brain:	n/a	chr7:99006260-99006274 chr7:99006261-99006275 chr7:99006266-99006277 chr7:99006266-99006275
42	CREB1	chr7:99006103-99006806	H1-hESC	embryonic stem cell:	n/a	n/a
43	YY1	chr7:99006188-99006800	A549	lung:	n/a	chr7:99006260-99006274 chr7:99006261-99006275 chr7:99006266-99006277 chr7:99006266-99006275
44	POLR2A	chr7:99005750-99006956	GM19193	blood:	n/a	n/a
45	RFX5	chr7:99006264-99007101	GM12878	blood:	n/a	chr7:99006650-99006667 chr7:99006651-99006666 chr7:99006651-99006666 chr7:99006654-99006668 chr7:99006376-99006390 chr7:99006651-99006666 chr7:99006459-99006467 chr7:99006375-99006391
46	SIN3A	chr7:99005887-99007023	GM12878	blood:	n/a	chr7:99006255-99006268
47	TAF1	chr7:99005839-99006764	HepG2	liver:	n/a	n/a
48	TBP	chr7:99005995-99007068	GM12878	blood:	n/a	n/a
49	MTA3	chr7:99004942-99007455	GM12878	blood:	n/a	n/a
50	MAX	chr7:99006026-99007032	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:99004073..99007178-chr7:99034881..99037749,7	MCF-7	breast:
2	chr7:99005493..99007248-chr7:99698114..99700010,2	MCF-7	breast:
3	chr7:99006486..99009069-chr7:99155267..99158163,2	K562	blood:
4	chr7:99004207..99009187-chr7:99032699..99039268,13	MCF-7	breast:
5	chr7:98981776..98988825-chr7:99001775..99008244,9	K562	blood:
6	chr17:57917415..57919234-chr7:99005336..99006972,2	MCF-7	breast:
7	chr1:37939890..37940421-chr7:99006196..99007120,2	Hela-S3	cervix:
8	chr7:99006119..99007069-chr7:129592041..129592902,2	Hela-S3	cervix:
9	chr7:99005761..99007888-chr7:99034840..99036856,3	K562	blood:
10	chr7:99004357..99007369-chr7:99061400..99065046,4	K562	blood:
11	chr7:99005603..99007986-chr7:99155532..99158163,2	K562	blood:
12	chr7:98921987..98924595-chr7:99004669..99006776,2	K562	blood:
13	chr7:99004357..99008691-chr7:99061400..99066308,7	K562	blood:
14	chr7:99005276..99007163-chr7:99100557..99104017,3	K562	blood:
15	chr21:41754491..41756003-chr7:99004951..99007138,2	MCF-7	breast:
16	chr17:56736254..56736831-chr7:99006376..99007011,2	Hela-S3	cervix:
17	chr7:99003930..99008101-chr7:99034839..99037079,5	K562	blood:
18	chr7:99005495..99008019-chr7:99062000..99063927,3	MCF-7	breast:
19	chr7:98968876..98974378-chr7:99004810..99008269,11	K562	blood:
20	chr12:13153284..13153903-chr7:99006203..99006915,2	Hela-S3	cervix:
21	chr7:98970407..98975516-chr7:99002028..99009396,17	MCF-7	breast:
22	chr7:98986172..98988816-chr7:99004808..99007138,3	MCF-7	breast:
23	chr7:99005061..99007834-chr7:99068897..99070903,2	MCF-7	breast:
24	chr17:57917564..57920084-chr7:99004805..99007004,2	MCF-7	breast:
25	chr7:98970740..98974571-chr7:99004724..99008680,16	MCF-7	breast:

Variant related genes	Relation type
BUD31	TF binding region
PDAP1	TF binding region
ENSG00000235123	Chromatin interaction
ENSG00000186591	Chromatin interaction
ENSG00000221909	Chromatin interaction
ENSG00000233621	Chromatin interaction
ENSG00000255621	Chromatin interaction
ENSG00000221838	Chromatin interaction
ENSG00000163874	Chromatin interaction
ENSG00000160917	Chromatin interaction
ENSG00000272647	Chromatin interaction
ENSG00000106246	Chromatin interaction
ENSG00000198556	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000241468	Chromatin interaction
ENSG00000130429	Chromatin interaction
ENSG00000241685	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000166508	Chromatin interaction
ENSG00000197343	Chromatin interaction
ENSG00000248919	Chromatin interaction
ENSG00000196652	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10085772	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10215765	1.00[ASN][1000 genomes]
rs10215854	1.00[ASN][1000 genomes]
rs10226310	1.00[ASN][1000 genomes]
rs10229886	1.00[ASN][1000 genomes]
rs10230784	1.00[ASN][1000 genomes]
rs10235235	1.00[ASN][1000 genomes]
rs10236240	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10261635	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10264505	1.00[ASN][1000 genomes]
rs10268984	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10273424	1.00[ASN][1000 genomes]
rs10275381	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10808112	1.00[ASN][1000 genomes]
rs10953288	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10953289	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11555142	1.00[ASN][1000 genomes]
rs11760993	0.84[EUR][1000 genomes]
rs11761528	1.00[ASN][1000 genomes]
rs11766423	1.00[ASN][1000 genomes]
rs11971640	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11973173	1.00[ASN][1000 genomes]
rs11973801	1.00[ASN][1000 genomes]
rs11974593	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11978345	1.00[ASN][1000 genomes]
rs11978582	1.00[ASN][1000 genomes]
rs11980143	1.00[ASN][1000 genomes]
rs11980995	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11980999	1.00[ASN][1000 genomes]
rs11983474	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531852	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533251	1.00[ASN][1000 genomes]
rs12535424	1.00[ASN][1000 genomes]
rs12536002	1.00[ASN][1000 genomes]
rs12539480	1.00[ASN][1000 genomes]
rs13223272	1.00[ASN][1000 genomes]
rs13226604	0.83[EUR][1000 genomes]
rs13227522	1.00[ASN][1000 genomes]
rs13243267	1.00[ASN][1000 genomes]
rs17161687	1.00[ASN][1000 genomes]
rs17161761	1.00[ASN][1000 genomes]
rs2003498	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28419687	1.00[ASN][1000 genomes]
rs28602855	1.00[ASN][1000 genomes]
rs28627543	1.00[ASN][1000 genomes]
rs34096782	1.00[ASN][1000 genomes]
rs34111611	1.00[ASN][1000 genomes]
rs34257469	1.00[ASN][1000 genomes]
rs35183025	1.00[ASN][1000 genomes]
rs35296070	1.00[ASN][1000 genomes]
rs35656351	1.00[ASN][1000 genomes]
rs36104094	1.00[ASN][1000 genomes]
rs45618033	1.00[ASN][1000 genomes]
rs4765	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55761861	1.00[ASN][1000 genomes]
rs57786744	1.00[ASN][1000 genomes]
rs57980352	1.00[ASN][1000 genomes]
rs58964157	1.00[ASN][1000 genomes]
rs60127638	1.00[ASN][1000 genomes]
rs60577432	1.00[ASN][1000 genomes]
rs61740607	1.00[ASN][1000 genomes]
rs66478766	1.00[ASN][1000 genomes]
rs66509940	1.00[ASN][1000 genomes]
rs66568021	1.00[ASN][1000 genomes]
rs66674233	1.00[ASN][1000 genomes]
rs67279166	1.00[ASN][1000 genomes]
rs67309224	1.00[ASN][1000 genomes]
rs67546174	1.00[ASN][1000 genomes]
rs67860332	1.00[ASN][1000 genomes]
rs67909852	1.00[ASN][1000 genomes]
rs67934834	1.00[ASN][1000 genomes]
rs6947826	1.00[ASN][1000 genomes]
rs6947941	1.00[ASN][1000 genomes]
rs6947974	1.00[ASN][1000 genomes]
rs6955891	1.00[ASN][1000 genomes]
rs6960810	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs704798	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73157587	1.00[ASN][1000 genomes]
rs73157588	1.00[ASN][1000 genomes]
rs73157589	1.00[ASN][1000 genomes]
rs73157590	1.00[ASN][1000 genomes]
rs73157596	1.00[ASN][1000 genomes]
rs73157600	1.00[ASN][1000 genomes]
rs73157601	1.00[ASN][1000 genomes]
rs73157602	1.00[ASN][1000 genomes]
rs73159506	1.00[ASN][1000 genomes]
rs73159509	1.00[ASN][1000 genomes]
rs73159522	1.00[ASN][1000 genomes]
rs73163167	1.00[ASN][1000 genomes]
rs73163169	1.00[ASN][1000 genomes]
rs740160	1.00[ASN][1000 genomes]
rs7778859	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs868391	1.00[ASN][1000 genomes]
rs9632722	1.00[ASN][1000 genomes]
rs9656060	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3433144	chr7:98777878-99060209	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv831069	chr7:98948128-99127584	Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99004200-99008000	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr7:99004600-99007600	Active TSS	H1 Cell Line	embryonic stem cell
3	chr7:99004600-99007800	Active TSS	Psoas Muscle	Psoas
4	chr7:99004600-99008000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:99004800-99007600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:99004800-99007600	Active TSS	Aorta	Aorta
7	chr7:99005000-99007000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:99005000-99007400	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr7:99005000-99007400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:99005000-99007400	Active TSS	Fetal Muscle Trunk	muscle
11	chr7:99005000-99007800	Active TSS	H9 Cell Line	embryonic stem cell
12	chr7:99005000-99007800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:99005000-99007800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:99005000-99007800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:99005000-99008000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:99005200-99007200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr7:99005200-99007400	Active TSS	Small Intestine	intestine
18	chr7:99005200-99007600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:99005200-99007600	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr7:99005200-99007600	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr7:99005200-99007600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:99005200-99007600	Active TSS	Fetal Intestine Large	intestine
23	chr7:99005200-99007600	Active TSS	Fetal Kidney	kidney
24	chr7:99005200-99007600	Active TSS	Ovary	ovary
25	chr7:99005200-99007600	Active TSS	A549	lung
26	chr7:99005200-99007600	Active TSS	HSMM	muscle
27	chr7:99005200-99007600	Active TSS	K562	blood
28	chr7:99005200-99007600	Active TSS	NHDF-Ad	bronchial
29	chr7:99005200-99007600	Active TSS	NHLF	lung
30	chr7:99005200-99007800	Active TSS	Lung	lung
31	chr7:99005200-99008000	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr7:99005200-99008000	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr7:99005400-99007200	Active TSS	Right Ventricle	heart
34	chr7:99005400-99007400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:99005400-99007400	Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr7:99005400-99007400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr7:99005400-99007400	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr7:99005400-99007400	Active TSS	Left Ventricle	heart
39	chr7:99005400-99007400	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr7:99005400-99007400	Active TSS	Hela-S3	cervix
41	chr7:99005400-99007400	Active TSS	NHEK	skin
42	chr7:99005400-99007600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:99005400-99007600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:99005400-99007600	Active TSS	Muscle Satellite Cultured Cells	--
45	chr7:99005400-99007600	Active TSS	Esophagus	oesophagus
46	chr7:99005400-99007600	Active TSS	Fetal Intestine Small	intestine
47	chr7:99005400-99007600	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr7:99005400-99007600	Bivalent/Poised TSS	HepG2	liver
49	chr7:99005400-99007600	Active TSS	HMEC	breast
50	chr7:99005400-99007600	Active TSS	HSMMtube	muscle

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