Variant report

Variant	rs10785620
Chromosome Location	chr12:46737252-46737253
allele	C/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:12)

rs_ID	r²[population]
rs10785624	0.84[EUR][1000 genomes]
rs1079780	0.83[ASN][1000 genomes]
rs10880962	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12296120	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12307969	0.92[EUR][1000 genomes]
rs12320197	0.86[CEU][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12816358	0.83[ASN][1000 genomes]
rs1873793	0.86[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2279559	0.86[EUR][1000 genomes]
rs35377637	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7958774	0.81[ASN][1000 genomes]
rs7972573	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
3	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	esv3423694	chr12:46733685-46745567	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46736200-46737400	Enhancers	NHEK	skin
2	chr12:46736200-46737600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:46736200-46737600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:46736200-46737800	Enhancers	HMEC	breast
5	chr12:46736400-46737400	Enhancers	Esophagus	oesophagus
6	chr12:46736400-46737400	Enhancers	A549	lung
7	chr12:46736600-46737600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:46736600-46737600	Enhancers	Pancreas	Pancrea
9	chr12:46736800-46737400	Enhancers	HepG2	liver
10	chr12:46736800-46737600	Enhancers	Gastric	stomach
11	chr12:46736800-46743000	Weak transcription	Right Ventricle	heart
12	chr12:46737000-46745800	Weak transcription	Adipose Nuclei	Adipose
13	chr12:46737200-46737800	Enhancers	Hela-S3	cervix
14	chr12:46737200-46754800	Weak transcription	Psoas Muscle	Psoas

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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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