Variant report

Variant	rs2172013
Chromosome Location	chr4:119849024-119849025
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10002822	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11726903	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11931472	0.81[CHB][hapmap]
rs11940444	0.81[CHB][hapmap]
rs12507203	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12648221	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13138512	0.94[CHB][hapmap];0.95[CHD][hapmap];0.81[JPT][hapmap];0.82[MEX][hapmap];0.89[ASN][1000 genomes]
rs1549533	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2114462	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4611911	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4834723	0.88[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.81[JPT][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs736965	0.96[CEU][hapmap];0.94[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs754397	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs875229	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs957776	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119838200-119851600	Enhancers	Rectal Smooth Muscle	rectum
2	chr4:119841000-119858400	Weak transcription	Psoas Muscle	Psoas
3	chr4:119842600-119861800	Weak transcription	Right Ventricle	heart
4	chr4:119845000-119851800	Enhancers	Colon Smooth Muscle	Colon
5	chr4:119845600-119850400	Enhancers	Duodenum Smooth Muscle	Duodenum
6	chr4:119846000-119849800	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr4:119847400-119849200	Weak transcription	Fetal Stomach	stomach
8	chr4:119847400-119861800	Weak transcription	Left Ventricle	heart
9	chr4:119848400-119850200	Enhancers	Stomach Smooth Muscle	stomach
10	chr4:119848400-119851600	Weak transcription	Ovary	ovary
11	chr4:119848400-119860200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr4:119848400-119861800	Weak transcription	Right Atrium	heart
13	chr4:119848600-119849800	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr4:119849000-119849400	Enhancers	Aorta	Aorta
15	chr4:119849000-119849400	Enhancers	Fetal Heart	heart
16	chr4:119849000-119849600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr4:119849000-119849800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:119849000-119850400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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