Variant report

Variant	rs9985472
Chromosome Location	chr3:17681459-17681460
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:17677327..17679225-chr3:17680575..17682681,2	K562	blood:

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10510477	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11128837	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11128839	1.00[JPT][hapmap]
rs11128841	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11128848	0.83[ASN][1000 genomes]
rs11929111	0.83[ASN][1000 genomes]
rs12497320	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12632570	0.83[ASN][1000 genomes]
rs13061771	0.83[ASN][1000 genomes]
rs13065637	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs13071934	0.83[ASN][1000 genomes]
rs13085167	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs13085441	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13095571	1.00[JPT][hapmap]
rs13097908	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs13321297	1.00[JPT][hapmap]
rs17273111	1.00[JPT][hapmap]
rs2033379	1.00[JPT][hapmap]
rs2337387	1.00[JPT][hapmap]
rs34297417	0.83[ASN][1000 genomes]
rs34487714	0.83[ASN][1000 genomes]
rs35642812	0.83[ASN][1000 genomes]
rs35697509	0.83[ASN][1000 genomes]
rs4128509	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4243835	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4243836	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4243838	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4435674	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4470554	0.83[ASN][1000 genomes]
rs4482690	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4484221	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs4513482	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4566567	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4566568	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4568172	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4589965	0.83[ASN][1000 genomes]
rs4602424	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4908939	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4908940	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4908964	0.83[ASN][1000 genomes]
rs4908966	0.83[ASN][1000 genomes]
rs4908973	0.83[ASN][1000 genomes]
rs4908987	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4909009	0.83[ASN][1000 genomes]
rs4909010	0.83[ASN][1000 genomes]
rs4909012	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs5014632	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs57309958	0.83[ASN][1000 genomes]
rs61081795	0.83[ASN][1000 genomes]
rs6577597	1.00[JPT][hapmap]
rs6577616	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6577617	0.83[ASN][1000 genomes]
rs6577619	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6577622	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6577643	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6577644	0.83[ASN][1000 genomes]
rs6768637	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6779834	0.83[ASN][1000 genomes]
rs6788763	1.00[JPT][hapmap]
rs6792422	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6795189	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6797952	0.83[ASN][1000 genomes]
rs6809062	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6809775	0.83[ASN][1000 genomes]
rs6810235	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7427588	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7630695	0.83[ASN][1000 genomes]
rs7632240	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7633601	0.83[ASN][1000 genomes]
rs7642860	1.00[JPT][hapmap]
rs7644020	1.00[JPT][hapmap]
rs7644389	1.00[JPT][hapmap]
rs7647914	0.83[ASN][1000 genomes]
rs7647928	0.83[ASN][1000 genomes]
rs7652156	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs8179983	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs9310523	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9681232	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs9812199	1.00[JPT][hapmap]
rs9812906	1.00[JPT][hapmap]
rs9821955	1.00[JPT][hapmap]
rs9847461	1.00[JPT][hapmap]
rs9853571	1.00[JPT][hapmap]
rs9855515	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9857910	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs9869999	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9880456	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999460	chr3:17360261-17720103	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv536510	chr3:17360261-17720103	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1013069	chr3:17560456-17783372	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv1849856	chr3:17646794-17748688	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1828838	chr3:17646794-17757960	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:17664800-17688600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr3:17664800-17689000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr3:17668800-17706200	Weak transcription	Primary B cells from cord blood	blood
4	chr3:17674000-17690800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr3:17674200-17687600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr3:17677600-17686800	Weak transcription	Small Intestine	intestine
7	chr3:17679200-17681600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr3:17679200-17681800	Enhancers	HMEC	breast
9	chr3:17679400-17683000	Enhancers	NHLF	lung
10	chr3:17679600-17681600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:17679600-17681800	Enhancers	Hela-S3	cervix
12	chr3:17679600-17682000	Enhancers	HSMM	muscle
13	chr3:17679800-17681800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr3:17679800-17682600	Enhancers	HUVEC	blood vessel
15	chr3:17680000-17681800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:17680200-17682200	Active TSS	A549	lung
17	chr3:17680400-17681600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:17680400-17681600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:17680800-17683000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr3:17681000-17681600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:17681000-17681600	Enhancers	Adipose Nuclei	Adipose
22	chr3:17681000-17681600	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr3:17681000-17681600	Enhancers	HepG2	liver
24	chr3:17681000-17681600	Enhancers	HSMMtube	muscle
25	chr3:17681000-17681600	Flanking Active TSS	Osteobl	bone
26	chr3:17681200-17681600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr3:17681200-17681600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:17681200-17681600	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr3:17681200-17681600	Enhancers	Aorta	Aorta
30	chr3:17681200-17681600	Enhancers	Brain Angular Gyrus	brain
31	chr3:17681200-17681600	Enhancers	Colon Smooth Muscle	Colon
32	chr3:17681200-17681600	Enhancers	Left Ventricle	heart
33	chr3:17681200-17681600	Enhancers	Right Atrium	heart
34	chr3:17681200-17681600	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr3:17681200-17681600	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr3:17681200-17681600	Flanking Active TSS	NHDF-Ad	bronchial
37	chr3:17681200-17681800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr3:17681200-17682600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:17681400-17682000	Enhancers	NH-A	brain
40	chr3:17681400-17682200	Enhancers	NHEK	skin
41	chr3:17681400-17682800	Enhancers	Muscle Satellite Cultured Cells	--
42	chr3:17681400-17683200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:17681400-17689800	Weak transcription	Primary T cells from cord blood	blood

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