Variant report

Variant	rs7588713
Chromosome Location	chr2:39766614-39766615
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10191970	0.90[CHB][hapmap]
rs13027520	0.82[ASN][1000 genomes]
rs13391377	0.82[ASN][1000 genomes]
rs17023923	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2888602	1.00[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35377016	0.82[ASN][1000 genomes]
rs4670282	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4670284	0.82[AMR][1000 genomes]
rs4670285	1.00[ASW][hapmap];0.82[CHD][hapmap];0.89[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4670943	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs734663	1.00[CHB][hapmap];0.83[CHD][hapmap];0.89[JPT][hapmap]
rs7565507	0.82[EUR][1000 genomes]
rs7608399	0.85[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	nsv833858	chr2:39684483-39856498	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39753400-39768400	Weak transcription	Right Ventricle	heart
2	chr2:39753400-39768600	Weak transcription	Right Atrium	heart
3	chr2:39753600-39767000	Weak transcription	Psoas Muscle	Psoas
4	chr2:39758200-39767400	Weak transcription	Fetal Kidney	kidney
5	chr2:39758600-39767000	Weak transcription	Lung	lung
6	chr2:39761200-39768200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:39761800-39769800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:39761800-39777600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:39762200-39785000	Weak transcription	HSMMtube	muscle
10	chr2:39763000-39769400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:39763000-39773600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:39763600-39768400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:39765400-39767600	Weak transcription	Aorta	Aorta
14	chr2:39765600-39768200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:39766000-39766800	Genic enhancers	HepG2	liver
16	chr2:39766200-39770000	Enhancers	Left Ventricle	heart
17	chr2:39766600-39766800	Enhancers	Skeletal Muscle Male	skeletal muscle

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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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