Variant report

Variant	rs1963697
Chromosome Location	chr6:54772814-54772815
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10456176	0.81[CHB][hapmap]
rs10485136	0.82[CEU][hapmap]
rs10948866	0.88[CHB][hapmap]
rs1115159	0.82[CHB][hapmap]
rs1155749	0.83[CHB][hapmap]
rs12192659	0.81[CHB][hapmap]
rs1393776	0.86[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1472679	0.88[CHB][hapmap]
rs1503140	0.82[ASN][1000 genomes]
rs1503147	0.83[CEU][hapmap];0.82[CHB][hapmap]
rs1566723	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs171224	0.93[CHB][hapmap]
rs181155	0.93[CHB][hapmap]
rs2179786	1.00[CHB][hapmap]
rs2207025	0.87[CHB][hapmap]
rs2207026	0.91[CHB][hapmap];0.84[JPT][hapmap]
rs239781	0.93[CHB][hapmap];0.81[JPT][hapmap]
rs239783	0.93[CHB][hapmap]
rs239790	0.93[CHB][hapmap]
rs239794	1.00[JPT][hapmap]
rs239796	0.93[CHB][hapmap]
rs239801	0.93[CHB][hapmap]
rs239815	1.00[JPT][hapmap]
rs239837	0.93[CHB][hapmap]
rs2816810	1.00[JPT][hapmap]
rs2816812	0.93[CHB][hapmap]
rs4141552	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs421957	1.00[JPT][hapmap]
rs4712082	1.00[JPT][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6459034	0.93[CHB][hapmap]
rs6902245	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6902422	0.82[ASN][1000 genomes]
rs6918402	0.81[CHB][hapmap]
rs6922186	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6926997	0.86[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6929930	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6937970	0.81[CHB][hapmap]
rs7453866	0.83[CHB][hapmap]
rs7741915	0.93[CHB][hapmap]
rs7761336	0.82[CHB][hapmap]
rs7765721	0.87[CHB][hapmap]
rs924712	0.83[CHB][hapmap]
rs931766	0.88[CHB][hapmap]
rs9349740	0.83[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9370345	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs9382403	0.87[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9396006	0.81[CEU][hapmap]
rs9475078	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs971526	0.88[CHB][hapmap]
rs973205	0.88[CHB][hapmap]
rs988913	0.86[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54758000-54775000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:54762000-54775000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr6:54762200-54775000	Weak transcription	Fetal Intestine Small	intestine
4	chr6:54763600-54775000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr6:54765600-54774400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:54765800-54780800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:54769000-54780800	Weak transcription	NHEK	skin
8	chr6:54770000-54775000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr6:54770000-54775000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:54770000-54781200	Weak transcription	HMEC	breast
11	chr6:54772600-54773000	Enhancers	Fetal Lung	lung
12	chr6:54772600-54774600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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