Variant report

Variant	rs3122710
Chromosome Location	chr1:212773991-212773992
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:8)

rs_ID	r²[population]
rs1008737	0.81[JPT][hapmap]
rs10494954	0.89[JPT][hapmap]
rs10863983	0.86[CHB][hapmap];0.80[CHD][hapmap]
rs1567710	0.81[JPT][hapmap]
rs3122711	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3122713	0.90[CHB][hapmap];0.88[CHD][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs3125297	0.90[CHB][hapmap];0.88[CHD][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs9429889	0.90[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
5	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
6	nsv428588	chr1:212705588-212862875	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	78 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	chr1:212770200-212778600	Weak transcription	Aorta	Aorta
2	chr1:212771000-212778200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:212771200-212774200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:212771200-212779000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:212773400-212775000	Enhancers	Hela-S3	cervix
6	chr1:212773600-212774000	Bivalent Enhancer	HepG2	liver
7	chr1:212773600-212774200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:212773600-212774600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:212773600-212774800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:212773600-212775000	Bivalent Enhancer	NHDF-Ad	bronchial
11	chr1:212773800-212774000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:212773800-212774000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:212773800-212774000	Bivalent Enhancer	NHLF	lung
14	chr1:212773800-212774200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:212773800-212774800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:212773800-212774800	Enhancers	HMEC	breast
17	chr1:212773800-212774800	Enhancers	NHEK	skin

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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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