Variant report

Variant	rs6719673
Chromosome Location	chr2:183926002-183926003
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10177344	0.86[ASN][1000 genomes]
rs10187158	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10187800	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10221950	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10497618	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13385317	0.88[ASN][1000 genomes]
rs13399354	0.88[ASN][1000 genomes]
rs2271671	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2368352	0.88[ASN][1000 genomes]
rs28429165	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28832369	0.88[ASN][1000 genomes]
rs35285912	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4427983	0.81[EUR][1000 genomes]
rs4666606	0.82[ASN][1000 genomes]
rs62190103	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7510	0.81[EUR][1000 genomes]
rs9333279	0.81[EUR][1000 genomes];0.82[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	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1003519	chr2:183885544-184015868	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183918000-183933400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:183920400-183926600	Enhancers	Fetal Intestine Small	intestine
3	chr2:183922400-183926600	Enhancers	Fetal Intestine Large	intestine
4	chr2:183922600-183927200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:183925000-183927400	Weak transcription	NH-A	brain
6	chr2:183925000-183927800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:183925000-183928000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:183925200-183927200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:183925200-183927400	Weak transcription	NHDF-Ad	bronchial
10	chr2:183925200-183927400	Weak transcription	Osteobl	bone
11	chr2:183925200-183927600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr2:183925800-183927400	Weak transcription	K562	blood
13	chr2:183926000-183930000	Weak transcription	HepG2	liver

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dbSNP/dbVar ID: rs12345 /nsv7879
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