Variant report

Variant	rs6863895
Chromosome Location	chr5:167449464-167449465
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10516039	1.00[CEU][hapmap];0.84[CHB][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11948431	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs11950941	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12153623	0.95[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1432820	0.83[CEU][hapmap]
rs17069520	0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17069547	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17069582	0.95[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17069585	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17069617	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs17069662	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs2617958	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.87[JPT][hapmap];0.92[MEX][hapmap];0.80[TSI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2617979	0.83[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs56117649	0.95[ASN][1000 genomes]
rs56379512	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57271872	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58243181	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58485045	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66943039	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67727213	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6882264	1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72824974	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73375658	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs754925	0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7714553	0.84[CEU][hapmap]
rs889066	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9764066	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830546	chr5:167303135-167456271	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167423400-167455400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:167443200-167452000	Weak transcription	HSMM	muscle
3	chr5:167443800-167466000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:167444000-167449600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:167446200-167449800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:167446600-167453600	Weak transcription	Right Ventricle	heart
7	chr5:167447200-167449600	Enhancers	Fetal Brain Male	brain
8	chr5:167447200-167450800	Enhancers	Left Ventricle	heart
9	chr5:167447600-167483000	Weak transcription	Right Atrium	heart
10	chr5:167447800-167449800	Weak transcription	Esophagus	oesophagus
11	chr5:167447800-167451200	Weak transcription	NHEK	skin
12	chr5:167448000-167452000	Enhancers	Fetal Lung	lung
13	chr5:167448200-167449800	Weak transcription	Ovary	ovary
14	chr5:167448400-167449600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:167448400-167449800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:167448800-167449800	Enhancers	Fetal Stomach	stomach
17	chr5:167449000-167449600	Enhancers	Brain Hippocampus Middle	brain
18	chr5:167449000-167449800	Enhancers	Brain Angular Gyrus	brain
19	chr5:167449000-167449800	Enhancers	Brain Cingulate Gyrus	brain
20	chr5:167449000-167449800	Enhancers	Colon Smooth Muscle	Colon
21	chr5:167449000-167450800	Enhancers	Rectal Smooth Muscle	rectum
22	chr5:167449200-167449800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:167449200-167449800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr5:167449200-167450000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:167449200-167450000	Enhancers	Brain Germinal Matrix	brain
26	chr5:167449200-167450000	Enhancers	Fetal Muscle Leg	muscle
27	chr5:167449400-167449800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:167449400-167449800	Enhancers	Brain Anterior Caudate	brain
29	chr5:167449400-167450200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:167449400-167450200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:167449400-167450400	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr5:167449400-167450600	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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