Variant report

Variant	rs10948871
Chromosome Location	chr6:54792592-54792593
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	chr6:54788156..54789737-chr6:54792237..54794375,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10485135	0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10948865	1.00[EUR][1000 genomes]
rs11961881	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11964483	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1507112	1.00[EUR][1000 genomes]
rs16886234	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16886244	0.94[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16886248	0.94[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16886267	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2062780	0.94[YRI][hapmap];0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2062781	0.94[YRI][hapmap];0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4327697	1.00[EUR][1000 genomes]
rs4428489	1.00[EUR][1000 genomes]
rs55644513	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs55954156	1.00[EUR][1000 genomes]
rs56991726	1.00[EUR][1000 genomes]
rs57287621	1.00[EUR][1000 genomes]
rs58495896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60013096	1.00[EUR][1000 genomes]
rs60517516	1.00[EUR][1000 genomes]
rs61632434	1.00[EUR][1000 genomes]
rs6906651	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6915116	1.00[EUR][1000 genomes]
rs6933855	1.00[EUR][1000 genomes]
rs73431481	1.00[EUR][1000 genomes]
rs73432338	1.00[EUR][1000 genomes]
rs73432360	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73432383	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73434410	1.00[EUR][1000 genomes]
rs73446382	1.00[EUR][1000 genomes]
rs73742854	1.00[EUR][1000 genomes]
rs73742861	1.00[EUR][1000 genomes]
rs73742862	1.00[EUR][1000 genomes]
rs73742869	1.00[EUR][1000 genomes]
rs7756856	1.00[EUR][1000 genomes]
rs7772366	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9296772	0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9464150	1.00[EUR][1000 genomes]
rs9464164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9464165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9464168	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9464169	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9464170	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9475070	0.94[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9475071	0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9475074	0.94[YRI][hapmap];0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9475076	0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9475080	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9475084	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9475086	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885900	chr6:54517968-54852462	Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2763553	chr6:54687979-54820487	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54776000-54796800	Weak transcription	Fetal Intestine Small	intestine
2	chr6:54781800-54796800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr6:54782200-54792600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr6:54785600-54805000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr6:54786800-54800000	Weak transcription	Hela-S3	cervix
6	chr6:54788200-54793600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:54789800-54810200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:54790000-54794400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr6:54790000-54800200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr6:54791400-54797000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:54791400-54798000	Weak transcription	Fetal Intestine Large	intestine
12	chr6:54791400-54798600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:54792200-54793400	Strong transcription	NHEK	skin
14	chr6:54792400-54795600	Strong transcription	HMEC	breast

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