Variant report

Variant	rs1317846
Chromosome Location	chr1:159894959-159894960
allele	G/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	STAT5A	chr1:159894313-159895497	GM12878	blood:	n/a	chr1:159894427-159894436
2	POLR2A	chr1:159890797-159895883	GM12891	blood:	n/a	n/a
3	MAX	chr1:159894183-159895879	NB4	blood:	n/a	chr1:159895718-159895727 chr1:159894805-159894816 chr1:159895716-159895731 chr1:159894426-159894435 chr1:159894806-159894816
4	POLR2A	chr1:159894888-159895488	H1-hESC	embryonic stem cell:	n/a	n/a
5	NFIC	chr1:159892833-159895887	GM12878	blood:	n/a	n/a
6	ZBTB7A	chr1:159893978-159895492	K562	blood:	n/a	n/a
7	MAX	chr1:159894099-159895878	Hela-S3	cervix:	n/a	chr1:159895718-159895727 chr1:159894805-159894816 chr1:159895716-159895731 chr1:159894426-159894435 chr1:159894806-159894816
8	POLR2A	chr1:159892253-159896642	MCF10A-Er-Src	breast:	n/a	n/a
9	CEBPB	chr1:159894868-159895182	K562	blood:	n/a	n/a
10	MAX	chr1:159894154-159895938	MCF-7	breast:	n/a	chr1:159895718-159895727 chr1:159894805-159894816 chr1:159895716-159895731 chr1:159894426-159894435 chr1:159894806-159894816
11	TCF7L2	chr1:159894913-159895893	HEK293	kidney:	n/a	chr1:159895165-159895174 chr1:159895845-159895854 chr1:159895842-159895856
12	USF1	chr1:159894157-159895078	ECC-1	luminal epithelium:	n/a	chr1:159894517-159894533 chr1:159894378-159894394
13	POLR2A	chr1:159892489-159895773	HUVEC	blood vessel:	n/a	n/a
14	ZBTB7A	chr1:159894059-159895771	ECC-1	luminal epithelium:	n/a	n/a
15	FOSL2	chr1:159894703-159895402	A549	lung:	n/a	n/a
16	CTCF	chr1:159894900-159895050	K562	blood:	n/a	n/a
17	STAT5A	chr1:159894153-159894976	K562	blood:	n/a	chr1:159894427-159894436
18	TEAD4	chr1:159894113-159895358	K562	blood:	n/a	n/a
19	FOS	chr1:159894209-159895444	HUVEC	blood vessel:	n/a	chr1:159894425-159894436 chr1:159894426-159894436 chr1:159894427-159894436 chr1:159894622-159894633 chr1:159894457-159894467 chr1:159894425-159894437 chr1:159894383-159894392 chr1:159894426-159894435
20	ELF1	chr1:159894271-159895481	MCF-7	breast:	n/a	chr1:159894444-159894456 chr1:159894821-159894832
21	JUND	chr1:159894888-159895165	HepG2	liver:	n/a	n/a
22	NR3C1	chr1:159894118-159895368	A549	lung:	n/a	n/a
23	E2F6	chr1:159894621-159895489	K562	blood:	n/a	chr1:159894842-159894849 chr1:159894837-159894852 chr1:159894839-159894850 chr1:159894842-159894849 chr1:159894842-159894849 chr1:159895384-159895391
24	ELK1	chr1:159894835-159895491	K562	blood:	n/a	n/a
25	RXRA	chr1:159894769-159895127	HepG2	liver:	n/a	n/a
26	MAX	chr1:159894058-159895867	Hela-S3	cervix:	n/a	chr1:159895718-159895727 chr1:159894805-159894816 chr1:159895716-159895731 chr1:159894426-159894435 chr1:159894806-159894816
27	CHD1	chr1:159892672-159895700	GM12878	blood:	n/a	chr1:159895384-159895391 chr1:159894935-159894945 chr1:159894333-159894343
28	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
29	POLR2A	chr1:159894949-159895555	HCT-116	colon:	n/a	n/a
30	MYC	chr1:159894294-159895572	K562	blood:	n/a	chr1:159894805-159894816 chr1:159894426-159894435 chr1:159894806-159894816
31	MAZ	chr1:159894908-159895108	HepG2	liver:	n/a	n/a
32	TEAD4	chr1:159894064-159895548	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr1:159891427-159895600	GM12891	blood:	n/a	n/a
34	RELA	chr1:159891000-159895797	GM18951	blood:	n/a	chr1:159894845-159894854 chr1:159894845-159894854
35	ESR1	chr1:159894792-159895195	ECC-1	luminal epithelium:	n/a	n/a
36	NRF1	chr1:159894854-159895566	GM12878	blood:	n/a	n/a
37	MAX	chr1:159894219-159895698	SK-N-SH	brain:	n/a	chr1:159894805-159894816 chr1:159894426-159894435 chr1:159894806-159894816
38	TAF1	chr1:159894933-159895558	GM12892	blood:	n/a	n/a
39	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
40	USF1	chr1:159894930-159895793	A549	lung:	n/a	chr1:159895719-159895730
41	MAX	chr1:159894483-159895859	H1-hESC	embryonic stem cell:	n/a	chr1:159895718-159895727 chr1:159894805-159894816 chr1:159895716-159895731 chr1:159894806-159894816
42	RELA	chr1:159894577-159895583	GM12892	blood:	n/a	chr1:159894845-159894854 chr1:159894845-159894854
43	WRNIP1	chr1:159894606-159895887	GM12878	blood:	n/a	n/a
44	POLR2A	chr1:159894856-159895096	SK-N-SH	brain:	n/a	n/a
45	TBL1XR1	chr1:159892696-159895752	GM12878	blood:	n/a	n/a
46	FOS	chr1:159894887-159895794	MCF10A-Er-Src	breast:	n/a	n/a
47	RUNX3	chr1:159892895-159895766	GM12878	blood:	n/a	n/a
48	POLR2A	chr1:159894202-159895734	MCF-7	breast:	n/a	n/a
49	BHLHE40	chr1:159892817-159896190	K562	blood:	n/a	chr1:159894517-159894533 chr1:159894378-159894394
50	MYC	chr1:159894127-159895717	K562	blood:	n/a	chr1:159894805-159894816 chr1:159894426-159894435 chr1:159894806-159894816

No.	Distal block	Cell Line	Cell type
1	chr1:159894798..159895333-chr8:125486565..125487422,2	Hela-S3	cervix:
2	chr1:159768768..159770539-chr1:159892719..159895162,2	K562	blood:
3	chr1:159894552..159895071-chr22:39916561..39917411,2	Hela-S3	cervix:
4	chr1:159893782..159895452-chr19:17516293..17517447,4	Hela-S3	cervix:
5	chr1:159894358..159895110-chr19:55918911..55919428,2	Hela-S3	cervix:
6	chr1:159894678..159895376-chr17:41323095..41323851,2	Hela-S3	cervix:
7	chr1:159867714..159872753-chr1:159888238..159897653,26	MCF-7	breast:
8	chr1:159749281..159752098-chr1:159893129..159896069,5	K562	blood:
9	chr1:78469483..78470465-chr1:159894832..159895503,2	Hela-S3	cervix:
10	chr1:159893370..159895935-chr1:160000895..160004600,3	MCF-7	breast:
11	chr1:159893111..159896488-chr1:159998687..160003248,7	K562	blood:
12	chr1:159894524..159895281-chr8:37756610..37757132,2	Hela-S3	cervix:
13	chr1:159847755..159854345-chr1:159891168..159896645,10	K562	blood:
14	chr1:159894571..159895309-chr11:18547917..18548843,2	Hela-S3	cervix:
15	chr1:159893029..159897081-chr1:159913897..159916842,4	K562	blood:
16	chr1:159894742..159895394-chr17:80055833..80056463,2	Hela-S3	cervix:
17	chr1:159894547..159895278-chr17:10600725..10601505,2	Hela-S3	cervix:
18	chr1:159894132..159896296-chr1:159999547..160002984,5	MCF-7	breast:
19	chr1:159869831..159870823-chr1:159893968..159895049,3	MCF-7	breast:
20	chr1:159894426..159894972-chr16:810371..811046,2	Hela-S3	cervix:
21	chr1:159894911..159895538-chr7:36429084..36429928,2	NB4	blood:
22	chr1:159894871..159895411-chr6:133135389..133136277,2	Hela-S3	cervix:
23	chr1:159894793..159895333-chr9:15422180..15423023,2	Hela-S3	cervix:
24	chr1:159893952..159895585-chr1:160067658..160070225,2	K562	blood:
25	chr1:159893250..159895585-chr1:160066348..160070225,3	K562	blood:
26	chr1:159893160..159896013-chr1:159998687..160002658,4	K562	blood:
27	chr1:159848497..159851306-chr1:159891970..159895925,3	K562	blood:
28	chr1:159750023..159751972-chr1:159893475..159895770,2	MCF-7	breast:
29	chr1:149859200..149860125-chr1:159894208..159895091,2	Hela-S3	cervix:
30	chr1:159894958..159895628-chr1:210546911..210547615,2	Hela-S3	cervix:
31	chr1:159894811..159895683-chr2:207023889..207024507,2	NB4	blood:
32	chr1:159893567..159896564-chr1:160230805..160232399,2	K562	blood:
33	chr1:159894777..159895363-chr2:96811141..96811936,2	Hela-S3	cervix:
34	chr1:159892760..159896965-chr1:159922291..159925141,4	K562	blood:
35	chr1:159798095..159800005-chr1:159892184..159895160,3	K562	blood:
36	chr1:159894811..159895698-chr3:101405185..101405704,2	Hela-S3	cervix:
37	chr1:159749654..159753650-chr1:159893129..159897064,5	K562	blood:
38	chr1:159894463..159895249-chr7:27224803..27225405,2	Hela-S3	cervix:
39	chr1:159894320..159894991-chr11:75110528..75111168,2	Hela-S3	cervix:
40	chr1:159849524..159855838-chr1:159893211..159898295,8	MCF-7	breast:

Variant related genes	Relation type
TAGLN2	TF binding region
ENSG00000085552	Chromatin interaction
ENSG00000240990	Chromatin interaction
ENSG00000158714	Chromatin interaction
ENSG00000181036	Chromatin interaction
ENSG00000273338	Chromatin interaction
ENSG00000112306	Chromatin interaction
ENSG00000164975	Chromatin interaction
ENSG00000141971	Chromatin interaction
ENSG00000170881	Chromatin interaction
ENSG00000164542	Chromatin interaction
ENSG00000143315	Chromatin interaction
ENSG00000169710	Chromatin interaction
ENSG00000102854	Chromatin interaction
ENSG00000158050	Chromatin interaction
ENSG00000200972	Chromatin interaction
ENSG00000188554	Chromatin interaction
ENSG00000074319	Chromatin interaction
ENSG00000005073	Chromatin interaction
ENSG00000156675	Chromatin interaction
ENSG00000128272	Chromatin interaction
ENSG00000149273	Chromatin interaction
ENSG00000162729	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000269640	Chromatin interaction
ENSG00000162723	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000170222	Chromatin interaction
ENSG00000158716	Chromatin interaction
ENSG00000266458	Chromatin interaction
ENSG00000011426	Chromatin interaction
ENSG00000228606	Chromatin interaction
ENSG00000114942	Chromatin interaction
ENSG00000023228	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000130303	Chromatin interaction
ENSG00000114391	Chromatin interaction
ENSG00000133028	Chromatin interaction
ENSG00000132716	Chromatin interaction
ENSG00000213085	Chromatin interaction
ENSG00000245149	Chromatin interaction

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

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

rs_ID	r²[population]
rs2153208	1.00[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	chr1:159891200-159895000	Flanking Active TSS	Fetal Thymus	thymus
2	chr1:159891200-159895200	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr1:159891800-159896000	Flanking Active TSS	Placenta	Placenta
4	chr1:159892000-159896000	Flanking Active TSS	Fetal Muscle Trunk	muscle
5	chr1:159892200-159896000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr1:159892400-159895800	Active TSS	Small Intestine	intestine
7	chr1:159892400-159896000	Flanking Active TSS	Dnd41	blood
8	chr1:159892600-159895600	Active TSS	NHLF	lung
9	chr1:159892600-159895800	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr1:159892800-159895600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:159892800-159895800	Active TSS	Aorta	Aorta
12	chr1:159893000-159895200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr1:159893000-159895600	Active TSS	Esophagus	oesophagus
14	chr1:159893000-159895600	Active TSS	Lung	lung
15	chr1:159893000-159895600	Active TSS	Sigmoid Colon	Sigmoid Colon
16	chr1:159893000-159895600	Active TSS	Stomach Mucosa	stomach
17	chr1:159893000-159895800	Active TSS	Gastric	stomach
18	chr1:159893000-159895800	Active TSS	Placenta Amnion	Placenta Amnion
19	chr1:159893200-159895400	Active TSS	Monocytes-CD14+_RO01746	blood
20	chr1:159893200-159895600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:159893200-159895600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:159893200-159895600	Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr1:159893200-159895600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:159893200-159895600	Active TSS	Spleen	Spleen
25	chr1:159893200-159895800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:159893200-159895800	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr1:159893200-159895800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:159893200-159895800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr1:159893200-159896000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:159893200-159896000	Active TSS	Left Ventricle	heart
31	chr1:159893400-159895600	Active TSS	Primary B cells from peripheral blood	blood
32	chr1:159893400-159895600	Active TSS	Primary T cells from cord blood	blood
33	chr1:159893400-159895600	Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr1:159893400-159895600	Active TSS	Brain Angular Gyrus	brain
35	chr1:159893400-159895800	Active TSS	Thymus	Thymus
36	chr1:159893400-159896000	Active TSS	Ovary	ovary
37	chr1:159893400-159896000	Active TSS	Right Atrium	heart
38	chr1:159893600-159895400	Active TSS	Muscle Satellite Cultured Cells	--
39	chr1:159893600-159895400	Active TSS	GM12878-XiMat	blood
40	chr1:159893600-159895400	Active TSS	HSMM	muscle
41	chr1:159893600-159895600	Active TSS	A549	lung
42	chr1:159893800-159895200	Active TSS	HMEC	breast
43	chr1:159893800-159895400	Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr1:159893800-159895400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:159893800-159895400	Active TSS	Duodenum Mucosa	Duodenum
46	chr1:159893800-159895400	Active TSS	NHEK	skin
47	chr1:159893800-159895600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:159893800-159895600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:159893800-159895600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:159893800-159895600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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