Variant report

Variant	rs1991174
Chromosome Location	chr2:173735180-173735181
allele	C/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:2)

rs_ID	r²[population]
rs1991173	0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs2676517	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[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	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

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173726800-173753600	Weak transcription	Brain Angular Gyrus	brain
2	chr2:173729200-173737000	Weak transcription	Fetal Intestine Small	intestine
3	chr2:173734400-173736200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:173734400-173736200	Enhancers	NHEK	skin
5	chr2:173734400-173747000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:173734600-173736000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:173734800-173735200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:173735000-173735200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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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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