Variant report

Variant	rs1167217
Chromosome Location	chr1:77786005-77786006
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10747354	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167207	0.85[CEU][hapmap];0.90[CHB][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1167215	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1177502	0.95[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs1377733	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1377734	0.86[ASN][1000 genomes]
rs1463324	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1851736	0.85[CEU][hapmap]
rs2602929	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2602934	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2602943	0.81[CEU][hapmap];0.81[CHB][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2602945	0.85[CEU][hapmap];0.90[CHB][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2602946	0.87[CEU][hapmap];0.91[CHB][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2602948	0.87[CEU][hapmap];0.90[CHB][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2602951	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2689676	0.85[CEU][hapmap];0.90[CHB][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2689683	0.85[CEU][hapmap];0.90[CHB][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2799550	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2799554	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2799555	0.90[CEU][hapmap];0.88[CHB][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2799556	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2799558	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2799559	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2799560	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2799561	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2799562	0.90[CEU][hapmap];0.89[CHB][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2799563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2815309	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2815310	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2815311	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2815312	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2815314	0.87[CEU][hapmap];0.91[CHB][hapmap];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2815317	0.89[CEU][hapmap];0.81[CHB][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2815319	0.85[CEU][hapmap];0.90[CHB][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2815324	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2815325	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2815326	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2815327	1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2815337	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6662853	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7531411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs936001	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9439799	0.80[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs9439819	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[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	nsv1005183	chr1:77728990-77949309	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv535010	chr1:77728990-77949309	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv932557	chr1:77730247-77958687	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1003714	chr1:77756861-77949309	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	esv2756848	chr1:77775014-77788462	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv2758945	chr1:77775014-77788462	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77755800-77788200	Weak transcription	HSMMtube	muscle
2	chr1:77774000-77790400	Weak transcription	Brain Substantia Nigra	brain
3	chr1:77774800-77787200	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:77777000-77794600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr1:77779400-77794400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr1:77779600-77786200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:77779600-77787200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:77779600-77794600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:77781400-77790000	Enhancers	NHDF-Ad	bronchial
10	chr1:77782000-77787400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:77782000-77787400	Weak transcription	HMEC	breast
12	chr1:77782400-77787600	Weak transcription	NHEK	skin
13	chr1:77782800-77787400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:77784600-77786400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:77785000-77789800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:77785200-77786200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:77785200-77786800	Weak transcription	NHLF	lung
18	chr1:77785200-77787800	Weak transcription	Brain Angular Gyrus	brain
19	chr1:77785200-77789600	Weak transcription	Brain Anterior Caudate	brain
20	chr1:77785200-77794400	Weak transcription	Primary T cells from cord blood	blood
21	chr1:77785200-77799200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:77785400-77787400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:77785800-77786600	Enhancers	Brain Cingulate Gyrus	brain
24	chr1:77785800-77786800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:77786000-77786800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:77786000-77787400	Weak transcription	Osteobl	bone
27	chr1:77786000-77788000	Weak transcription	HSMM	muscle

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