Variant report

Variant	rs1039084
Chromosome Location	chr6:147635413-147635414
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:147628339..147630746-chr6:147632929..147635838,2	K562	blood:
2	chr6:147632716..147635508-chr6:147662008..147664678,2	K562	blood:
3	chr6:147581185..147584248-chr6:147632695..147636064,3	K562	blood:
4	chr6:147633394..147635714-chr6:147648364..147650085,2	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1039083	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1039085	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1039086	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1147844	0.82[EUR][1000 genomes]
rs1147845	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1147846	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1147847	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12173905	0.92[ASN][1000 genomes]
rs12191720	0.93[ASN][1000 genomes]
rs12199542	0.89[ASN][1000 genomes]
rs1221638	0.83[EUR][1000 genomes]
rs12527235	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1496031	0.82[CEU][hapmap];0.91[CHD][hapmap]
rs1496034	0.80[EUR][1000 genomes]
rs1660687	0.81[EUR][1000 genomes]
rs1992389	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2068111	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2218221	0.84[EUR][1000 genomes]
rs2328813	0.81[ASN][1000 genomes]
rs2502732	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2582924	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2582925	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2582929	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2786183	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2786184	0.82[EUR][1000 genomes]
rs2786185	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2786187	0.92[ASN][1000 genomes]
rs2850177	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2850178	0.82[EUR][1000 genomes]
rs486867	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4896904	0.83[CEU][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4896906	0.82[ASN][1000 genomes]
rs4896907	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4896908	0.82[ASN][1000 genomes]
rs519630	0.92[EUR][1000 genomes]
rs533201	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs556493	0.85[EUR][1000 genomes]
rs562417	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs566028	0.93[ASW][hapmap];0.81[CEU][hapmap];0.83[CHD][hapmap];0.84[GIH][hapmap];0.87[LWK][hapmap];0.89[TSI][hapmap];0.80[EUR][1000 genomes]
rs577877	0.84[ASN][1000 genomes]
rs580657	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs584456	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs588273	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58987334	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs591355	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs597631	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.81[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs598038	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs614476	0.87[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.80[MKK][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs617975	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs618474	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs619175	0.81[EUR][1000 genomes]
rs619626	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs620715	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62435617	0.91[ASN][1000 genomes]
rs62435630	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs633603	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs656728	0.88[CHB][hapmap]
rs657155	0.87[EUR][1000 genomes]
rs659399	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs664203	0.83[CEU][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs673944	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6928919	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6932613	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7739314	1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7748995	0.81[EUR][1000 genomes]
rs7762087	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7765526	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7769576	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9373522	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9377048	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9390459	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9390460	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9390461	0.80[EUR][1000 genomes]
rs9390463	0.92[ASN][1000 genomes]
rs9399597	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9399598	0.82[CEU][hapmap];0.94[CHD][hapmap];0.81[GIH][hapmap];0.87[MKK][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9399599	0.84[AMR][1000 genomes];0.91[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:118 , 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	chr6:147618600-147648400	Weak transcription	HSMMtube	muscle
11	chr6:147618600-147649000	Weak transcription	Fetal Kidney	kidney
12	chr6:147619000-147636600	Weak transcription	NHLF	lung
13	chr6:147619000-147643200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr6:147619200-147690200	Weak transcription	Fetal Heart	heart
15	chr6:147619600-147642000	Strong transcription	K562	blood
16	chr6:147619800-147643200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr6:147619800-147648400	Weak transcription	Fetal Brain Male	brain
18	chr6:147622600-147708200	Weak transcription	Psoas Muscle	Psoas
19	chr6:147623600-147636600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr6:147625000-147642400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr6:147625400-147637600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr6:147625600-147636200	Weak transcription	Liver	Liver
23	chr6:147625600-147636800	Weak transcription	HMEC	breast
24	chr6:147625600-147643200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr6:147625600-147647000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr6:147625600-147648600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr6:147625800-147635600	Weak transcription	HepG2	liver
28	chr6:147625800-147637400	Weak transcription	Fetal Lung	lung
29	chr6:147625800-147641000	Weak transcription	Esophagus	oesophagus
30	chr6:147625800-147651200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr6:147625800-147664600	Weak transcription	Spleen	Spleen
32	chr6:147625800-147667400	Weak transcription	Gastric	stomach
33	chr6:147626000-147636600	Weak transcription	GM12878-XiMat	blood
34	chr6:147626000-147643400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr6:147626000-147645000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:147626000-147648600	Weak transcription	Fetal Stomach	stomach
37	chr6:147626000-147650600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr6:147626000-147687000	Weak transcription	Lung	lung
39	chr6:147626000-147700200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr6:147626200-147636200	Weak transcription	A549	lung
41	chr6:147626200-147636600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr6:147626200-147636600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr6:147626200-147636800	Weak transcription	Brain Anterior Caudate	brain
44	chr6:147626200-147642400	Weak transcription	Primary B cells from peripheral blood	blood
45	chr6:147626200-147643400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr6:147626200-147643600	Weak transcription	Thymus	Thymus
47	chr6:147626200-147662600	Weak transcription	Pancreas	Pancrea
48	chr6:147626200-147670200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr6:147626200-147684000	Weak transcription	Brain Hippocampus Middle	brain
50	chr6:147626200-147684000	Weak transcription	Fetal Muscle Trunk	muscle

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