Variant report

Variant	rs62435630
Chromosome Location	chr6:147630807-147630808
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:147218209..147220356-chr6:147630497..147633401,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1039083	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1039084	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1039085	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1039086	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1147844	0.82[EUR][1000 genomes]
rs1147845	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1147846	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1147847	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12173905	0.94[ASN][1000 genomes]
rs12191720	0.90[ASN][1000 genomes]
rs12199542	0.87[ASN][1000 genomes]
rs1221638	0.83[EUR][1000 genomes]
rs12527235	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1496034	0.81[EUR][1000 genomes]
rs1660687	0.81[EUR][1000 genomes]
rs1992389	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2068111	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2218221	0.84[EUR][1000 genomes]
rs2502732	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2582924	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2582925	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2582929	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2786183	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2786184	0.82[EUR][1000 genomes]
rs2786185	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2786187	0.94[ASN][1000 genomes]
rs2850177	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2850178	0.83[EUR][1000 genomes]
rs474990	0.80[EUR][1000 genomes]
rs486867	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4896904	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4896906	0.80[ASN][1000 genomes]
rs4896907	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs519630	0.92[EUR][1000 genomes]
rs533201	0.82[EUR][1000 genomes]
rs556493	0.85[EUR][1000 genomes]
rs562417	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs566028	0.81[EUR][1000 genomes]
rs577877	0.86[ASN][1000 genomes]
rs580657	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs584456	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs588273	0.85[ASN][1000 genomes]
rs58987334	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs591355	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs597631	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs598038	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs608147	0.80[EUR][1000 genomes]
rs614476	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs617975	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs618474	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs619175	0.81[EUR][1000 genomes]
rs619626	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs620715	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62435617	0.95[ASN][1000 genomes]
rs633603	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs657155	0.87[EUR][1000 genomes]
rs659399	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs664203	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs673944	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6928919	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6932613	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7739314	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7748995	0.82[EUR][1000 genomes]
rs7762087	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7765526	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7769576	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9373522	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9377048	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9390459	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9390460	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9390461	0.81[EUR][1000 genomes]
rs9390463	0.88[ASN][1000 genomes]
rs9399597	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9399598	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9399599	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886752	chr6:147443480-147729477	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv886753	chr6:147526508-147680291	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv470864	chr6:147539165-147709179	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv886754	chr6:147539165-147729477	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv604840	chr6:147539165-147730324	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	esv1832155	chr6:147554900-147715464	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv886755	chr6:147577646-147729477	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv886756	chr6:147580697-147729477	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv830839	chr6:147584914-147757264	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
10	nsv522406	chr6:147591022-147635413	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv886757	chr6:147591022-147729477	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147584400-147684600	Weak transcription	Brain Angular Gyrus	brain
2	chr6:147607400-147707400	Weak transcription	Colon Smooth Muscle	Colon
3	chr6:147609800-147667000	Weak transcription	NHEK	skin
4	chr6:147610200-147700200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:147611600-147636200	Weak transcription	HUVEC	blood vessel
6	chr6:147617400-147643200	Weak transcription	Colonic Mucosa	Colon
7	chr6:147617400-147680200	Weak transcription	Small Intestine	intestine
8	chr6:147617600-147636800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr6:147617800-147643000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr6:147618600-147635400	Weak transcription	NH-A	brain
11	chr6:147618600-147648400	Weak transcription	HSMMtube	muscle
12	chr6:147618600-147649000	Weak transcription	Fetal Kidney	kidney
13	chr6:147619000-147636600	Weak transcription	NHLF	lung
14	chr6:147619000-147643200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr6:147619200-147690200	Weak transcription	Fetal Heart	heart
16	chr6:147619600-147642000	Strong transcription	K562	blood
17	chr6:147619800-147633000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr6:147619800-147635200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr6:147619800-147643200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr6:147619800-147648400	Weak transcription	Fetal Brain Male	brain
21	chr6:147620000-147633200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr6:147621400-147631600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:147622600-147708200	Weak transcription	Psoas Muscle	Psoas
24	chr6:147623200-147631600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:147623600-147636600	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr6:147625000-147631600	Weak transcription	NHDF-Ad	bronchial
27	chr6:147625000-147633000	Weak transcription	Ovary	ovary
28	chr6:147625000-147642400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr6:147625400-147637600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr6:147625600-147635000	Weak transcription	Placenta	Placenta
31	chr6:147625600-147636200	Weak transcription	Liver	Liver
32	chr6:147625600-147636800	Weak transcription	HMEC	breast
33	chr6:147625600-147643200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr6:147625600-147647000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr6:147625600-147648600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr6:147625800-147635600	Weak transcription	HepG2	liver
37	chr6:147625800-147637400	Weak transcription	Fetal Lung	lung
38	chr6:147625800-147641000	Weak transcription	Esophagus	oesophagus
39	chr6:147625800-147651200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr6:147625800-147664600	Weak transcription	Spleen	Spleen
41	chr6:147625800-147667400	Weak transcription	Gastric	stomach
42	chr6:147626000-147631200	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr6:147626000-147631200	Weak transcription	Fetal Thymus	thymus
44	chr6:147626000-147631600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr6:147626000-147631600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr6:147626000-147634000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr6:147626000-147634600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr6:147626000-147636600	Weak transcription	GM12878-XiMat	blood
49	chr6:147626000-147643400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr6:147626000-147645000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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