Variant report

Variant	rs4511310
Chromosome Location	chr12:60599087-60599088
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2101710	1.00[AMR][1000 genomes]
rs7962074	1.00[ASN][1000 genomes]
rs969390	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];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	nsv428591	chr12:60446360-60631044	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv899137	chr12:60568891-60797083	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60586000-60603400	Weak transcription	HMEC	breast
2	chr12:60595800-60600200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:60596600-60599200	Weak transcription	Fetal Heart	heart
4	chr12:60597800-60600000	Enhancers	NHLF	lung
5	chr12:60598800-60599600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:60598800-60599600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:60598800-60599800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr12:60598800-60600000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:60599000-60599400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr12:60599000-60599400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr12:60599000-60599400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:60599000-60599600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr12:60599000-60599600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:60599000-60600000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr12:60599000-60600200	Enhancers	A549	lung

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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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