Variant report

Variant	rs10913576
Chromosome Location	chr1:171712150-171712151
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	MYC	chr1:171711104-171712832	MCF10A-Er-Src	breast:	n/a	chr1:171711241-171711251
2	MXI1	chr1:171709778-171713204	SK-N-SH	brain:	n/a	n/a
3	BHLHE40	chr1:171710277-171712858	K562	blood:	n/a	n/a
4	SMC3	chr1:171711026-171712740	Hela-S3	cervix:	n/a	n/a
5	GATA3	chr1:171710407-171712412	MCF-7	breast:	n/a	chr1:171712218-171712228
6	FOSL2	chr1:171711953-171712669	SK-N-SH	brain:	n/a	n/a
7	MYC	chr1:171710291-171712518	K562	blood:	n/a	chr1:171711241-171711251
8	POLR2A	chr1:171710833-171712969	U87	brain:	n/a	n/a
9	POLR2A	chr1:171709859-171713236	PBDE	blood:	n/a	n/a
10	FOS	chr1:171711712-171712568	MCF10A-Er-Src	breast:	n/a	n/a
11	E2F4	chr1:171711792-171712556	MCF10A-Er-Src	breast:	n/a	n/a
12	MAZ	chr1:171710136-171712711	IMR90	lung:	n/a	chr1:171711241-171711251 chr1:171710290-171710299
13	POLR2A	chr1:171710812-171712401	HUVEC	blood vessel:	n/a	n/a
14	GATA3	chr1:171711711-171712158	SH-SY5Y	brain:	n/a	n/a
15	ELK1	chr1:171712022-171712327	K562	blood:	n/a	n/a
16	TBP	chr1:171711092-171712528	Hela-S3	cervix:	n/a	n/a
17	SIN3AK20	chr1:171710264-171712294	MCF-7	breast:	n/a	n/a
18	GATA2	chr1:171711103-171712194	SH-SY5Y	brain:	n/a	n/a
19	POLR2A	chr1:171710166-171713538	K562	blood:	n/a	n/a
20	MYC	chr1:171710183-171712760	K562	blood:	n/a	chr1:171711241-171711251 chr1:171710290-171710299
21	IRF1	chr1:171711077-171712931	K562	blood:	n/a	chr1:171712301-171712318 chr1:171711242-171711256
22	TBP	chr1:171710371-171713097	K562	blood:	n/a	n/a
23	GTF2F1	chr1:171711127-171712660	Hela-S3	cervix:	n/a	n/a
24	GATA1	chr1:171710374-171712295	PBDE	blood:	n/a	chr1:171712218-171712228
25	POLR2A	chr1:171710515-171712606	Hela-S3	cervix:	n/a	n/a
26	RCOR1	chr1:171710423-171712534	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr1:171710186-171712220	GM12878	blood:	n/a	n/a
28	CUX1	chr1:171711835-171712433	K562	blood:	n/a	n/a
29	RCOR1	chr1:171710283-171712657	K562	blood:	n/a	n/a
30	MXI1	chr1:171709218-171712184	IMR90	lung:	n/a	n/a
31	MAFF	chr1:171711574-171712332	K562	blood:	n/a	n/a
32	FOS	chr1:171711902-171712541	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr1:171710530-171713463	MCF10A-Er-Src	breast:	n/a	n/a
34	FOXM1	chr1:171711681-171712699	SK-N-SH	brain:	n/a	n/a
35	STAT1	chr1:171710951-171712180	Hela-S3	cervix:	n/a	chr1:171711883-171711895 chr1:171711273-171711280
36	POLR2A	chr1:171710526-171713160	IMR90	lung:	n/a	n/a
37	FOS	chr1:171712142-171712582	MCF10A-Er-Src	breast:	n/a	n/a
38	MYC	chr1:171711066-171712576	MCF10A-Er-Src	breast:	n/a	chr1:171711241-171711251
39	POLR2A	chr1:171710280-171712532	Hela-S3	cervix:	n/a	n/a
40	EP300	chr1:171710313-171713148	K562	blood:	n/a	chr1:171711234-171711250 chr1:171712275-171712285
41	POLR2A	chr1:171710261-171712737	GM12891	blood:	n/a	n/a
42	SRF	chr1:171710820-171712174	MCF-7	breast:	n/a	chr1:171711241-171711251
43	ZMIZ1	chr1:171711002-171712383	K562	blood:	n/a	n/a
44	GATA3	chr1:171710946-171712166	MCF-7	breast:	n/a	n/a
45	IRF1	chr1:171711025-171712466	K562	blood:	n/a	chr1:171712301-171712318 chr1:171711242-171711256
46	POLR2A	chr1:171710980-171712874	U87	brain:	n/a	n/a
47	RCOR1	chr1:171710156-171712918	K562	blood:	n/a	n/a
48	POLR2A	chr1:171710875-171712685	SK-N-SH	brain:	n/a	n/a
49	TBL1XR1	chr1:171711019-171712383	K562	blood:	n/a	n/a
50	MAX	chr1:171710430-171712563	Hela-S3	cervix:	n/a	chr1:171711241-171711251

No.	Distal block	Cell Line	Cell type
1	chr1:171710341..171715416-chr1:171748571..171752440,7	MCF-7	breast:
2	chr1:171708496..171713095-chr1:171747641..171752422,13	MCF-7	breast:
3	chr1:171453211..171456610-chr1:171708836..171712780,4	K562	blood:
4	chr1:171709343..171715185-chr1:171748592..171756289,15	K562	blood:
5	chr1:171710254..171714548-chr1:171728803..171733052,4	K562	blood:
6	chr1:171710837..171713389-chr1:171720682..171723071,4	K562	blood:
7	chr1:171709554..171712819-chr1:171724332..171729197,5	K562	blood:
8	chr1:171710699..171713555-chr1:171719677..171724483,6	MCF-7	breast:
9	chr1:171710037..171714996-chr1:171734843..171738629,6	MCF-7	breast:
10	chr1:171709564..171713750-chr1:171736602..171743117,7	K562	blood:

Variant related genes	Relation type
VAMP4	TF binding region
ENSG00000253060	Chromatin interaction
ENSG00000010165	Chromatin interaction
ENSG00000271459	Chromatin interaction
ENSG00000236741	Chromatin interaction
ENSG00000117523	Chromatin interaction
ENSG00000232261	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10157503	1.00[CEU][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10157510	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[LWK][hapmap];0.88[TSI][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10157884	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10158135	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913593	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913596	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10913606	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11800547	1.00[CEU][hapmap]
rs12060179	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12061738	1.00[CEU][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12062285	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12063480	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12066199	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12067353	1.00[CEU][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12067531	1.00[CEU][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12071344	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12081088	1.00[CEU][hapmap]
rs12081515	1.00[CEU][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12097109	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28786201	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41263720	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41263722	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56707255	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57058497	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57089756	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57358569	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57863933	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57885759	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58182859	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58539497	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58642116	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59134075	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59191288	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59664913	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60965478	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61078534	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61170343	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61180943	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61188438	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61566417	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73044088	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73045803	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73045806	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73045810	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73045811	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73045815	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73045816	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73045817	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73045818	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73045820	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73045823	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73045825	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73045827	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7511865	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7550012	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers 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 target site	56 gene(s)	inside rSNPs	diseases
4	esv12447	chr1:171556291-171726822	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171708800-171712600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:171708800-171712800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:171709200-171712200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr1:171709200-171712400	Active TSS	NHLF	lung
5	chr1:171709400-171712400	Active TSS	NHDF-Ad	bronchial
6	chr1:171709400-171712600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:171709800-171712400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:171709800-171712600	Active TSS	Aorta	Aorta
9	chr1:171709800-171712600	Active TSS	Psoas Muscle	Psoas
10	chr1:171710000-171712400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:171710000-171712600	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr1:171710000-171712600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:171710000-171712600	Active TSS	Stomach Smooth Muscle	stomach
14	chr1:171710000-171713000	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr1:171710000-171713000	Active TSS	Fetal Brain Male	brain
16	chr1:171710200-171712200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr1:171710200-171712200	Active TSS	H9 Cell Line	embryonic stem cell
18	chr1:171710200-171712200	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr1:171710200-171712200	Active TSS	Fetal Intestine Large	intestine
20	chr1:171710200-171712200	Active TSS	Fetal Stomach	stomach
21	chr1:171710200-171712200	Active TSS	Ovary	ovary
22	chr1:171710200-171712400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:171710200-171712400	Active TSS	Colon Smooth Muscle	Colon
24	chr1:171710200-171712400	Active TSS	Thymus	Thymus
25	chr1:171710200-171712600	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr1:171710200-171712800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:171710200-171712800	Active TSS	Fetal Muscle Trunk	muscle
28	chr1:171710200-171713000	Active TSS	Right Ventricle	heart
29	chr1:171710400-171712200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:171710400-171712200	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr1:171710400-171712200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:171710400-171712200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:171710400-171712200	Active TSS	Brain Substantia Nigra	brain
34	chr1:171710400-171712200	Active TSS	Colonic Mucosa	Colon
35	chr1:171710400-171712200	Active TSS	Fetal Kidney	kidney
36	chr1:171710400-171712200	Active TSS	Fetal Lung	lung
37	chr1:171710400-171712200	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr1:171710400-171712200	Active TSS	A549	lung
39	chr1:171710400-171712200	Active TSS	GM12878-XiMat	blood
40	chr1:171710400-171712200	Active TSS	K562	blood
41	chr1:171710400-171712400	Active TSS	H1 Cell Line	embryonic stem cell
42	chr1:171710400-171712400	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr1:171710400-171712400	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr1:171710400-171712400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:171710400-171712400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:171710400-171712400	Active TSS	Muscle Satellite Cultured Cells	--
47	chr1:171710400-171712400	Active TSS	NHEK	skin
48	chr1:171710400-171712600	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr1:171710400-171712600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:171710400-171712600	Active TSS	Brain Hippocampus Middle	brain

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