Variant report

Variant	rs2502732
Chromosome Location	chr6:147576423-147576424
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1039083	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1039084	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1039085	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1039086	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1147844	0.81[EUR][1000 genomes]
rs1147845	0.88[ASN][1000 genomes]
rs1147846	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1147847	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12173905	0.98[ASN][1000 genomes]
rs12191720	0.89[ASN][1000 genomes]
rs12199542	0.86[ASN][1000 genomes]
rs1221638	0.85[EUR][1000 genomes]
rs12527235	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1496031	0.82[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap]
rs1660687	0.83[EUR][1000 genomes]
rs1992389	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2068111	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2119490	0.80[EUR][1000 genomes]
rs2218221	0.82[EUR][1000 genomes]
rs2582924	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2582925	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2582929	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2786183	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2786184	0.81[EUR][1000 genomes]
rs2786185	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2786187	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2786189	0.84[CHB][hapmap]
rs2850177	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2850178	0.81[EUR][1000 genomes]
rs474990	0.82[EUR][1000 genomes]
rs486867	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4896904	0.83[CEU][hapmap];0.85[CHB][hapmap];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4896907	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs519630	0.94[EUR][1000 genomes]
rs533201	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs556493	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs562417	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs566028	0.81[CEU][hapmap];0.83[CHB][hapmap];0.83[EUR][1000 genomes]
rs577877	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs580657	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs584456	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs588273	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58987334	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs591355	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs597631	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs598038	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs608147	0.82[EUR][1000 genomes]
rs614476	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs617975	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs618474	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs619175	0.83[EUR][1000 genomes]
rs619626	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs620715	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62435617	0.98[ASN][1000 genomes]
rs62435630	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs633603	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs656728	0.84[CHB][hapmap]
rs657155	0.89[EUR][1000 genomes]
rs659399	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs664203	0.83[CEU][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs673944	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6928919	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6932613	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7739314	0.89[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7762087	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7769576	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9373522	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9377048	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9390459	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9390460	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9390463	0.87[ASN][1000 genomes]
rs9399597	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9399598	0.82[CEU][hapmap];0.84[CHB][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9399599	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019245	chr6:147350834-147609776	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538467	chr6:147350834-147609776	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147527800-147586800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr6:147542400-147590800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr6:147543800-147588800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr6:147545600-147617000	Weak transcription	Small Intestine	intestine
5	chr6:147549400-147616800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr6:147549600-147578200	Weak transcription	Fetal Heart	heart
7	chr6:147549600-147584600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr6:147549600-147587200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr6:147552600-147591800	Weak transcription	HUVEC	blood vessel
10	chr6:147554600-147590000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr6:147561600-147600800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr6:147562600-147599800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr6:147564000-147586800	Weak transcription	HMEC	breast
14	chr6:147564400-147604600	Weak transcription	NHLF	lung
15	chr6:147564400-147619000	Weak transcription	Hela-S3	cervix
16	chr6:147564600-147608800	Weak transcription	NH-A	brain
17	chr6:147564600-147617000	Weak transcription	Fetal Kidney	kidney
18	chr6:147570200-147587200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr6:147570600-147609000	Weak transcription	Brain Substantia Nigra	brain
20	chr6:147571400-147599200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr6:147571400-147599400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:147572400-147590000	Weak transcription	Primary T cells from cord blood	blood
23	chr6:147572600-147581200	Weak transcription	Osteobl	bone
24	chr6:147572600-147584200	Weak transcription	NHDF-Ad	bronchial
25	chr6:147572600-147588400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr6:147572600-147588400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr6:147572600-147605800	Weak transcription	Brain Anterior Caudate	brain
28	chr6:147572600-147609600	Weak transcription	Thymus	Thymus
29	chr6:147572600-147610200	Weak transcription	Esophagus	oesophagus
30	chr6:147572800-147584200	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr6:147572800-147584600	Weak transcription	Brain Hippocampus Middle	brain
32	chr6:147572800-147588400	Weak transcription	Liver	Liver
33	chr6:147572800-147599000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr6:147572800-147605800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr6:147572800-147617000	Weak transcription	Right Ventricle	heart
36	chr6:147573000-147581000	Weak transcription	NHEK	skin
37	chr6:147573000-147581400	Weak transcription	Gastric	stomach
38	chr6:147573000-147584600	Weak transcription	HSMM	muscle
39	chr6:147573000-147585200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr6:147573000-147586800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr6:147573000-147586800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr6:147573000-147588000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr6:147573000-147589600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr6:147573000-147594200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr6:147573000-147599200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr6:147573000-147599800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr6:147573000-147599800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr6:147573000-147616600	Weak transcription	Ovary	ovary
49	chr6:147573000-147616800	Weak transcription	Aorta	Aorta
50	chr6:147573200-147579000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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