Variant report

Variant	rs10219620
Chromosome Location	chr12:30264168-30264169
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:14)

rs_ID	r²[population]
rs10734781	0.83[EUR][1000 genomes]
rs10771632	0.83[EUR][1000 genomes]
rs10771634	0.83[EUR][1000 genomes]
rs11050657	0.84[ASN][1000 genomes]
rs11050658	0.84[ASN][1000 genomes]
rs11050660	0.96[ASN][1000 genomes]
rs11050661	0.99[ASN][1000 genomes]
rs11533434	0.84[ASN][1000 genomes]
rs1474212	0.83[EUR][1000 genomes]
rs16935387	0.80[ASN][1000 genomes]
rs1994278	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4931258	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4931259	0.87[ASN][1000 genomes]
rs7132406	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948495	chr12:30090771-30344772	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv1042081	chr12:30147993-30344670	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv541436	chr12:30147993-30344670	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region	2 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	chr12:30263400-30265000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:30263600-30264600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:30263800-30264200	Active TSS	HSMM	muscle
4	chr12:30263800-30264400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:30263800-30264600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:30263800-30264600	Enhancers	Hela-S3	cervix
7	chr12:30263800-30264800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:30263800-30265000	Enhancers	HUVEC	blood vessel
9	chr12:30264000-30264200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr12:30264000-30264400	Enhancers	NH-A	brain
11	chr12:30264000-30264400	Enhancers	Osteobl	bone
12	chr12:30264000-30264600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:30264000-30264600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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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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