Variant report

Variant	rs985650
Chromosome Location	chr5:167443585-167443586
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:167433427..167437109-chr5:167443043..167445741,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10039736	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11134483	0.85[CEU][hapmap];0.95[CHB][hapmap];0.88[GIH][hapmap];0.80[JPT][hapmap];0.88[ASN][1000 genomes]
rs11134485	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[GIH][hapmap];0.80[JPT][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11955430	0.91[CEU][hapmap];0.95[CHB][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs12522181	0.85[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];0.88[ASN][1000 genomes]
rs1345735	0.91[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17069646	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1821254	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1862419	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2546944	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2546957	1.00[CEU][hapmap];0.91[CHB][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2546960	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2569047	0.83[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap];0.93[YRI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2617963	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2617981	0.81[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55859018	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6890434	0.91[CEU][hapmap];0.82[MEX][hapmap]
rs730256	0.90[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap];0.81[ASN][1000 genomes]
rs889067	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs992047	0.95[CEU][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[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:16 , 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	chr5:167434800-167447600	Weak transcription	NH-A	brain
3	chr5:167437200-167444000	Weak transcription	Left Ventricle	heart
4	chr5:167438000-167448200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr5:167438400-167443600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:167440000-167443600	Weak transcription	Right Ventricle	heart
7	chr5:167441400-167444600	Weak transcription	Right Atrium	heart
8	chr5:167441800-167446400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:167442600-167444600	Strong transcription	NHEK	skin
10	chr5:167442600-167446000	Weak transcription	Fetal Brain Male	brain
11	chr5:167443000-167443800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:167443000-167444200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:167443000-167444600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:167443000-167449200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:167443200-167447400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:167443200-167452000	Weak transcription	HSMM	muscle

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