Variant report

Variant	rs12665312
Chromosome Location	chr6:45686707-45686708
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12525547	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16873698	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1932040	0.89[EUR][1000 genomes]
rs321321	0.85[ASN][1000 genomes]
rs9349326	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9369573	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9381394	0.97[EUR][1000 genomes]
rs9395112	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][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	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 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	chr6:45682200-45690600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:45682800-45690400	Weak transcription	NHEK	skin
3	chr6:45684600-45686800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:45684600-45690200	Weak transcription	HMEC	breast
5	chr6:45684800-45690200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr6:45685000-45687000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:45685400-45687200	Enhancers	HSMMtube	muscle
8	chr6:45685400-45687600	Enhancers	HSMM	muscle
9	chr6:45686000-45687400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:45686000-45687400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:45686000-45687400	Enhancers	NHDF-Ad	bronchial
12	chr6:45686000-45687600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr6:45686200-45687200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:45686200-45687400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:45686200-45687600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:45686200-45687600	Enhancers	Osteobl	bone
17	chr6:45686400-45687000	Enhancers	NH-A	brain
18	chr6:45686600-45687000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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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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