Variant report

Variant	rs1448531
Chromosome Location	chr2:177508081-177508082
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10199487	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1562608	0.80[JPT][hapmap]
rs17411687	0.83[ASN][1000 genomes]
rs2594950	0.90[JPT][hapmap]
rs2922312	0.82[ASN][1000 genomes]
rs6433602	0.83[ASN][1000 genomes]
rs7585434	0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834464	chr2:177375743-177534410	Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 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	chr2:177503000-177509800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:177503400-177508200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:177504200-177511000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:177505400-177508200	Enhancers	NHDF-Ad	bronchial
5	chr2:177505400-177508800	Enhancers	HMEC	breast
6	chr2:177505800-177508600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr2:177505800-177508800	Enhancers	Osteobl	bone
8	chr2:177507000-177508200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:177507800-177508400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:177508000-177508400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:177508000-177508800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:177508000-177508800	Enhancers	HUVEC	blood vessel
13	chr2:177508000-177509000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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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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