Variant report

Variant	rs994831
Chromosome Location	chr4:121797177-121797178
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10006287	0.91[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.84[MEX][hapmap]
rs10026533	0.83[CHD][hapmap]
rs1015219	0.91[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs10518380	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11943025	0.85[CEU][hapmap];0.91[CHB][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12499872	0.85[CEU][hapmap];0.91[CHB][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12501914	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12503895	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12507367	0.82[JPT][hapmap]
rs12510578	0.92[ASN][1000 genomes]
rs12511422	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12639719	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12639772	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12640648	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12644883	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12648660	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1397771	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs1397774	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs1450461	0.90[CHB][hapmap];0.83[ASN][1000 genomes]
rs1470695	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1511302	0.91[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap]
rs1588524	0.91[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.83[ASN][1000 genomes]
rs1597491	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs168226	0.91[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs17051244	0.90[CHB][hapmap]
rs17051252	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs17051254	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs17051259	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs17051271	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17051275	0.85[CEU][hapmap];0.91[CHB][hapmap];0.84[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs171068	0.83[ASN][1000 genomes]
rs1809075	0.83[ASN][1000 genomes]
rs2136999	0.91[CHB][hapmap]
rs2167208	0.85[CEU][hapmap];0.91[CHB][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2667171	0.83[ASN][1000 genomes]
rs343182	0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs343185	0.90[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs343189	0.91[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap];0.83[ASN][1000 genomes]
rs3789139	0.91[CHB][hapmap]
rs3806807	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4833672	0.91[CHB][hapmap]
rs4833688	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4833689	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57023921	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6855578	0.82[CHB][hapmap]
rs72680418	0.83[ASN][1000 genomes]
rs72680432	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72680433	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72680438	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72680440	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72680445	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72680451	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72680462	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72680468	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72680474	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72680476	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72680477	0.92[ASN][1000 genomes]
rs72680480	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72680484	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72680490	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72680497	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72680498	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs896060	0.91[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.83[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	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv4490	chr4:121782939-121801246	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121784200-121798000	Weak transcription	Fetal Intestine Small	intestine
2	chr4:121791400-121803200	Weak transcription	Fetal Stomach	stomach
3	chr4:121792400-121800000	Weak transcription	Aorta	Aorta
4	chr4:121795200-121797400	Enhancers	Fetal Lung	lung
5	chr4:121795800-121797400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:121796000-121797400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:121796000-121797400	Enhancers	Ovary	ovary
8	chr4:121796200-121797400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:121796400-121797200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:121796400-121824400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr4:121796600-121797200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr4:121796600-121798000	Weak transcription	Fetal Intestine Large	intestine
13	chr4:121796600-121802000	Weak transcription	NHDF-Ad	bronchial
14	chr4:121796600-121803200	Weak transcription	Pancreas	Pancrea
15	chr4:121796800-121803200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:121796800-121808400	Weak transcription	Left Ventricle	heart
17	chr4:121797000-121798200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:121797000-121798400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:121797000-121823800	Weak transcription	Osteobl	bone

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