Variant report

Variant	rs7513326
Chromosome Location	chr1:159895536-159895537
allele	A/G
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	chr1:159890797-159895883	GM12891	blood:	n/a	n/a
2	MAX	chr1:159894183-159895879	NB4	blood:	n/a	chr1:159895718-159895727 chr1:159894805-159894816 chr1:159895716-159895731 chr1:159894426-159894435 chr1:159894806-159894816
3	NFIC	chr1:159892833-159895887	GM12878	blood:	n/a	n/a
4	MAX	chr1:159894099-159895878	Hela-S3	cervix:	n/a	chr1:159895718-159895727 chr1:159894805-159894816 chr1:159895716-159895731 chr1:159894426-159894435 chr1:159894806-159894816
5	POLR2A	chr1:159892253-159896642	MCF10A-Er-Src	breast:	n/a	n/a
6	MAX	chr1:159894154-159895938	MCF-7	breast:	n/a	chr1:159895718-159895727 chr1:159894805-159894816 chr1:159895716-159895731 chr1:159894426-159894435 chr1:159894806-159894816
7	TCF7L2	chr1:159894913-159895893	HEK293	kidney:	n/a	chr1:159895165-159895174 chr1:159895845-159895854 chr1:159895842-159895856
8	USF1	chr1:159895391-159895958	A549	lung:	n/a	chr1:159895719-159895730
9	POLR2A	chr1:159892489-159895773	HUVEC	blood vessel:	n/a	n/a
10	ZBTB7A	chr1:159894059-159895771	ECC-1	luminal epithelium:	n/a	n/a
11	RFX5	chr1:159895113-159895621	GM12878	blood:	n/a	n/a
12	GTF2B	chr1:159895062-159895869	K562	blood:	n/a	n/a
13	MAX	chr1:159894058-159895867	Hela-S3	cervix:	n/a	chr1:159895718-159895727 chr1:159894805-159894816 chr1:159895716-159895731 chr1:159894426-159894435 chr1:159894806-159894816
14	CHD1	chr1:159892672-159895700	GM12878	blood:	n/a	chr1:159895384-159895391 chr1:159894935-159894945 chr1:159894333-159894343
15	SP1	chr1:159894949-159895636	H1-hESC	embryonic stem cell:	n/a	chr1:159895096-159895105 chr1:159895355-159895367 chr1:159895357-159895366 chr1:159895095-159895104 chr1:159895096-159895105 chr1:159895355-159895367 chr1:159895586-159895596 chr1:159895094-159895106 chr1:159895356-159895365 chr1:159895586-159895596 chr1:159895331-159895342 chr1:159895094-159895106 chr1:159895091-159895104 chr1:159895357-159895366 chr1:159895095-159895105
16	POLR2A	chr1:159894949-159895555	HCT-116	colon:	n/a	n/a
17	MYC	chr1:159894294-159895572	K562	blood:	n/a	chr1:159894805-159894816 chr1:159894426-159894435 chr1:159894806-159894816
18	TEAD4	chr1:159894064-159895548	ECC-1	luminal epithelium:	n/a	n/a
19	STAT3	chr1:159895262-159895590	GM12878	blood:	n/a	n/a
20	POLR2A	chr1:159891427-159895600	GM12891	blood:	n/a	n/a
21	RELA	chr1:159891000-159895797	GM18951	blood:	n/a	chr1:159894845-159894854 chr1:159894845-159894854
22	NRF1	chr1:159894854-159895566	GM12878	blood:	n/a	n/a
23	MAX	chr1:159894219-159895698	SK-N-SH	brain:	n/a	chr1:159894805-159894816 chr1:159894426-159894435 chr1:159894806-159894816
24	TAF1	chr1:159894933-159895558	GM12892	blood:	n/a	n/a
25	USF1	chr1:159895536-159895858	GM12878	blood:	n/a	chr1:159895719-159895730
26	E2F6	chr1:159894240-159895560	A549	lung:	n/a	chr1:159894377-159894387 chr1:159894842-159894849 chr1:159894837-159894852 chr1:159894839-159894850 chr1:159894380-159894390 chr1:159894842-159894849 chr1:159894842-159894849 chr1:159895384-159895391
27	STAT3	chr1:159895325-159895747	MCF10A-Er-Src	breast:	n/a	n/a
28	USF1	chr1:159894930-159895793	A549	lung:	n/a	chr1:159895719-159895730
29	MAX	chr1:159894483-159895859	H1-hESC	embryonic stem cell:	n/a	chr1:159895718-159895727 chr1:159894805-159894816 chr1:159895716-159895731 chr1:159894806-159894816
30	RELA	chr1:159894577-159895583	GM12892	blood:	n/a	chr1:159894845-159894854 chr1:159894845-159894854
31	WRNIP1	chr1:159894606-159895887	GM12878	blood:	n/a	n/a
32	TBL1XR1	chr1:159892696-159895752	GM12878	blood:	n/a	n/a
33	FOS	chr1:159894887-159895794	MCF10A-Er-Src	breast:	n/a	n/a
34	RUNX3	chr1:159892895-159895766	GM12878	blood:	n/a	n/a
35	POLR2A	chr1:159894202-159895734	MCF-7	breast:	n/a	n/a
36	BHLHE40	chr1:159892817-159896190	K562	blood:	n/a	chr1:159894517-159894533 chr1:159894378-159894394
37	MYC	chr1:159894127-159895717	K562	blood:	n/a	chr1:159894805-159894816 chr1:159894426-159894435 chr1:159894806-159894816
38	YY1	chr1:159895127-159895541	HCT-116	colon:	n/a	n/a
39	HEY1	chr1:159891628-159895602	K562	blood:	n/a	chr1:159894533-159894548 chr1:159895351-159895366 chr1:159894542-159894557 chr1:159891866-159891875
40	NR2F2	chr1:159891554-159895765	K562	blood:	n/a	n/a
41	POLR2A	chr1:159892858-159895575	HL-60	blood:	n/a	n/a
42	POLR2A	chr1:159887120-159896155	GM12878	blood:	n/a	n/a
43	POLR2A	chr1:159882104-159895580	K562	blood:	n/a	n/a
44	BCLAF1	chr1:159894643-159895676	GM12878	blood:	n/a	chr1:159894844-159894853 chr1:159894966-159894979
45	POLR2A	chr1:159892622-159895814	U87	brain:	n/a	n/a
46	POU2F2	chr1:159894058-159895583	GM12891	blood:	n/a	chr1:159894386-159894398
47	USF1	chr1:159895508-159895945	SK-N-SH	brain:	n/a	chr1:159895719-159895730
48	POLR2A	chr1:159894789-159895638	MCF-7	breast:	n/a	n/a
49	POLR2A	chr1:159894949-159895588	HCT-116	colon:	n/a	n/a
50	ELF1	chr1:159894395-159895588	MCF-7	breast:	n/a	chr1:159894444-159894456 chr1:159894821-159894832

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:159895524-159895574	T-47D	breast:	n/a
2	chr1:159895524-159895574	NH-A	brain:	n/a
3	chr1:159895524-159895574	HPAEpiC	pulmonary alveolar:	n/a
4	chr1:159895524-159895574	GM19239	blood:	n/a
5	chr1:159895524-159895574	NHBE	bronchial:	n/a
6	chr1:159895524-159895574	ovcar-3	ovarian:	n/a
7	chr1:159895524-159895574	AG10803	skin:	n/a
8	chr1:159895524-159895574	Hepatocyte	liver:	n/a
9	chr1:159895524-159895574	U87	brain:	n/a
10	chr1:159895524-159895574	HNPCEpiC	eye:	n/a
11	chr1:159895524-159895574	HUVEC	blood vessel:	n/a
12	chr1:159895524-159895574	Jurkat	blood:	n/a
13	chr1:159895524-159895574	PrEC	prostate:	n/a
14	chr1:159895524-159895574	Caco-2	colon:	n/a
15	chr1:159895524-159895574	ECC-1	luminal epithelium:	n/a
16	chr1:159895524-159895574	GM12892	blood:	n/a
17	chr1:159895524-159895574	GM12878	blood:	n/a
18	chr1:159895524-159895574	AG04449	skin:	fetal
19	chr1:159895524-159895574	RPTEC	kidney:	n/a
20	chr1:159895524-159895574	SK-N-SH_RA	brain:	n/a
21	chr1:159895524-159895574	HRPEpiC	eye:	n/a
22	chr1:159895524-159895574	IMR90	lung:	fetal
23	chr1:159895524-159895574	ProgFib	skin:	n/a
24	chr1:159895524-159895574	MCF-7	breast:	n/a
25	chr1:159895524-159895574	SK-N-SH	brain:	n/a
26	chr1:159895524-159895574	HL-60	blood:	n/a
27	chr1:159895524-159895574	PFSK-1	brain:	n/a
28	chr1:159895524-159895574	AG04450	lung:	fetal
29	chr1:159895524-159895574	HEK293	kidney:	embryo
30	chr1:159895524-159895574	SKMC	muscle:	n/a
31	chr1:159895524-159895574	HMEC	breast:	n/a
32	chr1:159895524-159895574	MCF10A-Er-Src	breast:	n/a
33	chr1:159895524-159895574	HEEpiC	esophagus:	n/a
34	chr1:159895524-159895574	HAEpiC	amniotic membrane:	n/a
35	chr1:159895524-159895574	A549	lung:	n/a
36	chr1:159895524-159895574	SAEC	small airway:	n/a
37	chr1:159895524-159895574	PANC-1	pancreas:	n/a
38	chr1:159895524-159895574	HCF	heart:	n/a
39	chr1:159895524-159895574	HCT-116	colon:	n/a
40	chr1:159895524-159895574	HCPEpiC	choroid plexus:	n/a
41	chr1:159895524-159895574	HCM	heart:	n/a
42	chr1:159895524-159895574	H1-hESC	embryonic stem cell:	embryo
43	chr1:159895524-159895574	NHDF-neo	bronchial:	n/a
44	chr1:159895524-159895574	AG09309	skin:	n/a
45	chr1:159895524-159895574	NT2-D1	testis:	n/a
46	chr1:159895524-159895574	Hela-S3	cervix:	n/a
47	chr1:159895524-159895574	HRE	kidney:	n/a
48	chr1:159895524-159895574	HepG2	liver:	n/a
49	chr1:159895524-159895574	BJ	skin:	n/a
50	chr1:159895524-159895574	SK-N-MC	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:159867714..159872753-chr1:159888238..159897653,26	MCF-7	breast:
2	chr1:159749281..159752098-chr1:159893129..159896069,5	K562	blood:
3	chr1:159893370..159895935-chr1:160000895..160004600,3	MCF-7	breast:
4	chr1:159893111..159896488-chr1:159998687..160003248,7	K562	blood:
5	chr1:159847755..159854345-chr1:159891168..159896645,10	K562	blood:
6	chr1:159893029..159897081-chr1:159913897..159916842,4	K562	blood:
7	chr1:159895030..159897330-chr1:160336317..160337995,2	K562	blood:
8	chr1:159894132..159896296-chr1:159999547..160002984,5	MCF-7	breast:
9	chr1:159894911..159895538-chr7:36429084..36429928,2	NB4	blood:
10	chr1:159893952..159895585-chr1:160067658..160070225,2	K562	blood:
11	chr1:159893250..159895585-chr1:160066348..160070225,3	K562	blood:
12	chr1:159893160..159896013-chr1:159998687..160002658,4	K562	blood:
13	chr1:159848497..159851306-chr1:159891970..159895925,3	K562	blood:
14	chr1:159750023..159751972-chr1:159893475..159895770,2	MCF-7	breast:
15	chr1:159894958..159895628-chr1:210546911..210547615,2	Hela-S3	cervix:
16	chr1:159894811..159895683-chr2:207023889..207024507,2	NB4	blood:
17	chr1:159893567..159896564-chr1:160230805..160232399,2	K562	blood:
18	chr1:159892760..159896965-chr1:159922291..159925141,4	K562	blood:
19	chr1:159894811..159895698-chr3:101405185..101405704,2	Hela-S3	cervix:
20	chr1:159749654..159753650-chr1:159893129..159897064,5	K562	blood:
21	chr1:159849524..159855838-chr1:159893211..159898295,8	MCF-7	breast:

Variant related genes	Relation type
TAGLN2	TF binding region
TAGLN2	CpG island
ENSG00000164542	Chromatin interaction
ENSG00000085552	Chromatin interaction
ENSG00000114391	Chromatin interaction
ENSG00000200972	Chromatin interaction
ENSG00000162729	Chromatin interaction
ENSG00000011426	Chromatin interaction
ENSG00000132716	Chromatin interaction
ENSG00000143315	Chromatin interaction
ENSG00000162723	Chromatin interaction
ENSG00000158716	Chromatin interaction
ENSG00000228606	Chromatin interaction
ENSG00000114942	Chromatin interaction
ENSG00000171786	Chromatin interaction
ENSG00000213085	Chromatin interaction
ENSG00000023228	Chromatin interaction
ENSG00000266458	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1934075	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005195	chr1:159452759-159910337	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv872489	chr1:159844819-159940000	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv464150	chr1:159860917-159908393	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv548052	chr1:159860917-159908393	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv548053	chr1:159885500-159908393	Flanking Bivalent TSS/Enh Genic enhancers Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
6	nsv524006	chr1:159886422-159923111	Flanking Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
7	nsv516637	chr1:159889686-159908393	Active TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	62 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	chr1:159891800-159896000	Flanking Active TSS	Placenta	Placenta
2	chr1:159892000-159896000	Flanking Active TSS	Fetal Muscle Trunk	muscle
3	chr1:159892200-159896000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr1:159892400-159895800	Active TSS	Small Intestine	intestine
5	chr1:159892400-159896000	Flanking Active TSS	Dnd41	blood
6	chr1:159892600-159895600	Active TSS	NHLF	lung
7	chr1:159892600-159895800	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr1:159892800-159895600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:159892800-159895800	Active TSS	Aorta	Aorta
10	chr1:159893000-159895600	Active TSS	Esophagus	oesophagus
11	chr1:159893000-159895600	Active TSS	Lung	lung
12	chr1:159893000-159895600	Active TSS	Sigmoid Colon	Sigmoid Colon
13	chr1:159893000-159895600	Active TSS	Stomach Mucosa	stomach
14	chr1:159893000-159895800	Active TSS	Gastric	stomach
15	chr1:159893000-159895800	Active TSS	Placenta Amnion	Placenta Amnion
16	chr1:159893200-159895600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:159893200-159895600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:159893200-159895600	Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr1:159893200-159895600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:159893200-159895600	Active TSS	Spleen	Spleen
21	chr1:159893200-159895800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:159893200-159895800	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr1:159893200-159895800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:159893200-159895800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:159893200-159896000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:159893200-159896000	Active TSS	Left Ventricle	heart
27	chr1:159893400-159895600	Active TSS	Primary B cells from peripheral blood	blood
28	chr1:159893400-159895600	Active TSS	Primary T cells from cord blood	blood
29	chr1:159893400-159895600	Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr1:159893400-159895600	Active TSS	Brain Angular Gyrus	brain
31	chr1:159893400-159895800	Active TSS	Thymus	Thymus
32	chr1:159893400-159896000	Active TSS	Ovary	ovary
33	chr1:159893400-159896000	Active TSS	Right Atrium	heart
34	chr1:159893600-159895600	Active TSS	A549	lung
35	chr1:159893800-159895600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:159893800-159895600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:159893800-159895600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:159893800-159895600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:159893800-159895600	Active TSS	Brain Hippocampus Middle	brain
40	chr1:159893800-159895600	Active TSS	Brain Substantia Nigra	brain
41	chr1:159893800-159895600	Active TSS	Fetal Stomach	stomach
42	chr1:159893800-159895600	Active TSS	Pancreas	Pancrea
43	chr1:159893800-159895600	Active TSS	Rectal Mucosa Donor 31	rectum
44	chr1:159893800-159895800	Active TSS	H9 Cell Line	embryonic stem cell
45	chr1:159893800-159895800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:159893800-159896000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:159894000-159895600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:159894000-159895600	Active TSS	NHDF-Ad	bronchial
49	chr1:159894000-159895800	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr1:159894000-159895800	Active TSS	iPS-15b Cell Line	embryonic stem cell

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