Variant report

Variant	rs1870931
Chromosome Location	chr3:119757013-119757014
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119755863..119757873-chr3:119808761..119811166,2	K562	blood:
2	chr3:119754878..119758165-chr3:119760689..119763266,3	MCF-7	breast:
3	chr3:119756140..119758480-chr3:119764855..119767283,2	MCF-7	breast:

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10433404	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10934500	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10934502	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10934503	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10934505	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10934506	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10934507	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1154595	0.87[JPT][hapmap]
rs11915717	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12053912	0.82[CEU][hapmap]
rs12054090	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12108149	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12629015	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12630592	0.87[JPT][hapmap]
rs12630829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12632325	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12634476	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12634889	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12635018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12638973	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13314595	0.89[YRI][hapmap]
rs13321783	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs1574154	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs16830567	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs16830689	0.84[YRI][hapmap]
rs16830730	0.82[CEU][hapmap]
rs1719889	0.90[YRI][hapmap]
rs1719894	0.87[JPT][hapmap]
rs17204878	0.87[JPT][hapmap]
rs1732170	0.91[JPT][hapmap]
rs1980718	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2199503	0.82[JPT][hapmap]
rs2319398	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs2319399	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs28536662	0.87[JPT][hapmap]
rs28831519	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3107669	0.87[JPT][hapmap]
rs334533	0.87[JPT][hapmap]
rs334535	0.92[YRI][hapmap]
rs334559	0.82[YRI][hapmap]
rs334563	0.87[JPT][hapmap]
rs3814057	0.82[ASN][1000 genomes]
rs3814058	0.82[ASN][1000 genomes]
rs4072520	0.82[YRI][hapmap]
rs4340737	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4624596	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4687890	0.87[JPT][hapmap]
rs4687893	0.87[JPT][hapmap]
rs4688042	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4688046	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4688047	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4688053	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4688054	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4688059	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56728675	0.81[ASN][1000 genomes]
rs57939147	0.83[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs58493895	0.81[ASN][1000 genomes]
rs58863896	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60235167	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60393216	0.81[ASN][1000 genomes]
rs62264706	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs62264708	0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs62264714	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62264734	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62264739	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62264742	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62264743	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62264747	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62264749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62266274	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62266277	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62266281	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6438552	0.87[JPT][hapmap]
rs6438553	0.87[JPT][hapmap]
rs6769435	0.82[YRI][hapmap]
rs6770314	0.92[YRI][hapmap]
rs6773751	0.80[AFR][1000 genomes]
rs6781942	0.87[JPT][hapmap]
rs6782799	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs6790751	0.89[YRI][hapmap]
rs6792572	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs6795653	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs6797459	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6800622	0.87[JPT][hapmap]
rs6805251	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs6808874	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7431209	0.86[JPT][hapmap]
rs7617372	0.89[YRI][hapmap]
rs7620750	0.89[YRI][hapmap]
rs7633279	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7639388	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7644234	0.87[JPT][hapmap]
rs7652172	0.85[YRI][hapmap]
rs9813864	0.91[JPT][hapmap]
rs9851174	0.92[YRI][hapmap]
rs9873477	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs9878473	0.87[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119732600-119757800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr3:119737800-119757200	Weak transcription	A549	lung
3	chr3:119740000-119758200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr3:119741000-119758000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr3:119741200-119758400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:119742000-119758000	Weak transcription	NHDF-Ad	bronchial
7	chr3:119744200-119758000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:119744400-119758400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:119744800-119758000	Weak transcription	NHEK	skin
10	chr3:119745200-119758400	Weak transcription	HepG2	liver
11	chr3:119745400-119758400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr3:119747600-119758400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr3:119747800-119757200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:119747800-119757200	Weak transcription	Ovary	ovary
15	chr3:119747800-119758400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr3:119748000-119758000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr3:119748800-119757800	Weak transcription	Right Ventricle	heart
18	chr3:119749000-119758400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr3:119749600-119758000	Weak transcription	HSMM	muscle
20	chr3:119750400-119758400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr3:119750600-119757800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr3:119750600-119758000	Weak transcription	Fetal Lung	lung
23	chr3:119751800-119766800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:119752200-119757200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr3:119753200-119757600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr3:119753400-119758200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr3:119754200-119758400	Weak transcription	Thymus	Thymus
28	chr3:119754800-119757200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr3:119755000-119757200	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr3:119755000-119758000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr3:119755200-119757400	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr3:119755800-119758000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr3:119756000-119757200	Weak transcription	Pancreas	Pancrea
34	chr3:119756000-119757200	Weak transcription	HMEC	breast
35	chr3:119756000-119758000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr3:119756200-119758400	Weak transcription	Brain Hippocampus Middle	brain
37	chr3:119756400-119757200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr3:119756400-119758400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr3:119756600-119758200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:119756800-119757400	ZNF genes & repeats	Fetal Brain Female	brain
41	chr3:119756800-119758200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr3:119757000-119757400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
43	chr3:119757000-119757400	ZNF genes & repeats	Aorta	Aorta
44	chr3:119757000-119757400	ZNF genes & repeats	Esophagus	oesophagus
45	chr3:119757000-119757400	Enhancers	Left Ventricle	heart
46	chr3:119757000-119757400	ZNF genes & repeats	Lung	lung
47	chr3:119757000-119757400	Enhancers	Psoas Muscle	Psoas
48	chr3:119757000-119757400	Strong transcription	Dnd41	blood
49	chr3:119757000-119757600	ZNF genes & repeats	Fetal Intestine Small	intestine
50	chr3:119757000-119760000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood

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