Variant report

Variant	rs56059743
Chromosome Location	chr2:173656120-173656121
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs3769291	0.83[AFR][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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173642600-173669800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:173648600-173660800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:173650800-173656800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:173653200-173657800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:173654400-173671400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:173655200-173658200	Enhancers	Fetal Thymus	thymus
7	chr2:173655400-173656200	Enhancers	Fetal Muscle Leg	muscle
8	chr2:173655600-173675600	Weak transcription	Fetal Heart	heart
9	chr2:173655800-173656800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:173655800-173657400	Weak transcription	HMEC	breast
11	chr2:173656000-173660400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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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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