Variant report

Variant	rs12815621
Chromosome Location	chr12:63438672-63438673
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1026096	1.00[JPT][hapmap]
rs1249935	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs12814605	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12829134	1.00[JPT][hapmap]
rs17098568	1.00[JPT][hapmap]
rs17098575	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17098581	1.00[JPT][hapmap]
rs17098789	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17098794	0.85[EUR][1000 genomes]
rs17098802	1.00[ASN][1000 genomes]
rs17739095	0.85[EUR][1000 genomes]
rs2464118	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs35929301	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs699591	1.00[JPT][hapmap]
rs699615	1.00[JPT][hapmap]
rs699618	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs771974	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs772538	1.00[JPT][hapmap]
rs960592	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3415227	chr12:63228121-63591615	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63438000-63439200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr12:63438200-63438800	Enhancers	Osteobl	bone
3	chr12:63438200-63439000	Enhancers	NHDF-Ad	bronchial
4	chr12:63438200-63439400	Enhancers	Hela-S3	cervix
5	chr12:63438400-63439000	Enhancers	Aorta	Aorta
6	chr12:63438400-63439200	Enhancers	Placenta	Placenta
7	chr12:63438400-63439400	Enhancers	HMEC	breast
8	chr12:63438400-63440200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr12:63438400-63440400	Enhancers	NH-A	brain
10	chr12:63438600-63439000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:63438600-63439000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:63438600-63439200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:63438600-63439200	Enhancers	HSMM	muscle
14	chr12:63438600-63439400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:63438600-63439400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:63438600-63439400	Enhancers	NHEK	skin
17	chr12:63438600-63439800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:63438600-63440200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links