Variant report

Variant	rs7979716
Chromosome Location	chr12:44383260-44383261
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10748388	1.00[CEU][hapmap]
rs1881928	1.00[CEU][hapmap]
rs2699990	1.00[MEX][hapmap]
rs2897765	1.00[CEU][hapmap]
rs4768058	1.00[CEU][hapmap]
rs4768060	1.00[CEU][hapmap]
rs55996795	0.85[EUR][1000 genomes]
rs56070984	1.00[EUR][1000 genomes]
rs56124551	0.94[EUR][1000 genomes]
rs57065008	0.85[EUR][1000 genomes]
rs57781916	0.81[EUR][1000 genomes]
rs61202170	0.94[EUR][1000 genomes]
rs6582493	1.00[CEU][hapmap]
rs7297277	1.00[CEU][hapmap]
rs7298388	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs73085745	0.89[EUR][1000 genomes]
rs73085755	0.85[EUR][1000 genomes]
rs73085780	1.00[EUR][1000 genomes]
rs73085785	1.00[EUR][1000 genomes]
rs73087608	1.00[EUR][1000 genomes]
rs73087620	1.00[EUR][1000 genomes]
rs73087623	1.00[EUR][1000 genomes]
rs73087628	1.00[EUR][1000 genomes]
rs73087631	1.00[EUR][1000 genomes]
rs73087643	1.00[EUR][1000 genomes]
rs73087674	1.00[EUR][1000 genomes]
rs73091731	0.81[EUR][1000 genomes]
rs73091734	0.81[EUR][1000 genomes]
rs74084785	0.85[EUR][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	nsv832390	chr12:44318071-44512114	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1041188	chr12:44331098-44528712	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr12:44361400-44401400	Weak transcription	Aorta	Aorta
2	chr12:44364600-44393200	Weak transcription	Small Intestine	intestine
3	chr12:44377400-44386200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:44381000-44385200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:44382400-44383600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:44382600-44383400	Enhancers	HMEC	breast
7	chr12:44382600-44383600	Enhancers	NHEK	skin
8	chr12:44382800-44383400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:44382800-44383400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:44382800-44383400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr12:44382800-44383600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:44382800-44383800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:44383000-44383400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:44383000-44383400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:44383000-44384200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:44383000-44384200	Enhancers	GM12878-XiMat	blood
17	chr12:44383200-44402400	Weak transcription	HSMMtube	muscle

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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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