Variant report

Variant	rs811251
Chromosome Location	chr6:4890471-4890472
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10080391	0.89[ASN][1000 genomes]
rs11967994	0.91[CHB][hapmap]
rs11968021	0.91[CHB][hapmap]
rs1265332	0.82[CHB][hapmap]
rs1265333	0.82[CHB][hapmap]
rs1265335	0.91[CHB][hapmap]
rs13199417	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs13212871	1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[MEX][hapmap];0.83[ASN][1000 genomes]
rs1557032	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17138856	0.82[CHB][hapmap]
rs17138859	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17138931	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17138959	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17138966	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs184588	0.91[CHB][hapmap]
rs2235429	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2326553	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs233476	0.91[CHB][hapmap]
rs3748078	0.82[CHB][hapmap]
rs4376391	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56278978	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58368827	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60609172	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60949901	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61278797	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6916304	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6916467	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6919412	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73348319	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73348345	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73348361	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73362530	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73362564	1.00[EUR][1000 genomes]
rs73364523	1.00[EUR][1000 genomes]
rs73364567	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73364571	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7743735	1.00[EUR][1000 genomes]
rs7768749	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs947151	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9502239	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9502244	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9502247	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9502248	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9502249	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9502250	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs9502251	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9504254	0.82[CHB][hapmap]
rs9504262	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9504269	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9504270	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9504271	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9504275	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9504276	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9504281	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9504284	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9504286	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]

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	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv830577	chr6:4834567-5050544	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4865600-4892200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:4871400-4891400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:4871400-4892000	Weak transcription	NHEK	skin
4	chr6:4872000-4892000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:4872200-4898800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr6:4874000-4891200	Weak transcription	Primary T cells from cord blood	blood
7	chr6:4874200-4892000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:4874200-4892000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:4874200-4894000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:4874800-4892000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:4875200-4892000	Weak transcription	Aorta	Aorta
12	chr6:4877000-4892400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:4877200-4892000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr6:4877200-4892800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr6:4877400-4891400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:4877400-4892000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr6:4877400-4892000	Weak transcription	Ovary	ovary
18	chr6:4877400-4892200	Weak transcription	Esophagus	oesophagus
19	chr6:4878200-4905200	Weak transcription	Colon Smooth Muscle	Colon
20	chr6:4879600-4906200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr6:4880400-4891000	Weak transcription	Fetal Heart	heart
22	chr6:4880400-4892200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr6:4880400-4907800	Weak transcription	Small Intestine	intestine
24	chr6:4880600-4892000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr6:4880600-4892000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr6:4880600-4898600	Weak transcription	HSMM	muscle
27	chr6:4881000-4891600	Weak transcription	HepG2	liver
28	chr6:4881000-4892200	Weak transcription	Colonic Mucosa	Colon
29	chr6:4881000-4892600	Weak transcription	K562	blood
30	chr6:4881200-4892000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr6:4881200-4892200	Weak transcription	Fetal Muscle Leg	muscle
32	chr6:4881200-4893200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr6:4881400-4891600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr6:4881400-4892000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:4881400-4892000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr6:4882600-4892200	Weak transcription	Brain Angular Gyrus	brain
37	chr6:4882600-4892600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr6:4882800-4894400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr6:4882800-4909000	Weak transcription	Brain Anterior Caudate	brain
40	chr6:4884000-4892000	Weak transcription	Fetal Stomach	stomach
41	chr6:4884000-4892200	Weak transcription	Gastric	stomach
42	chr6:4884000-4892200	Weak transcription	Right Ventricle	heart
43	chr6:4884000-4893000	Weak transcription	Thymus	Thymus
44	chr6:4884000-4898400	Weak transcription	Psoas Muscle	Psoas
45	chr6:4884200-4892000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr6:4884200-4892200	Weak transcription	Pancreas	Pancrea
47	chr6:4884400-4892400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr6:4884600-4892000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr6:4884800-4891800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:4884800-4892000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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