Variant report

Variant	rs12116668
Chromosome Location	chr1:57371133-57371134
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11802385	1.00[CHB][hapmap];0.83[CHD][hapmap];0.82[YRI][hapmap]
rs11804514	1.00[CHB][hapmap]
rs1329450	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17114468	1.00[CHB][hapmap];0.84[CHD][hapmap];0.85[YRI][hapmap]
rs28472455	0.87[ASN][1000 genomes]
rs652553	1.00[GIH][hapmap]
rs856847	0.87[ASN][1000 genomes]
rs927214	1.00[CHB][hapmap];0.85[YRI][hapmap]

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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12116668	BSND	cis	parietal	SCAN
rs12116668	DMRTB1	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57364200-57375600	Weak transcription	Pancreas	Pancrea
2	chr1:57364600-57376200	Weak transcription	Stomach Mucosa	stomach
3	chr1:57367200-57378400	Enhancers	Liver	Liver
4	chr1:57368000-57373800	Weak transcription	NHDF-Ad	bronchial
5	chr1:57369800-57371200	Weak transcription	HepG2	liver
6	chr1:57370200-57372800	Enhancers	Fetal Intestine Small	intestine
7	chr1:57370400-57371200	Enhancers	Gastric	stomach
8	chr1:57370400-57372000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:57370400-57372400	Enhancers	Fetal Intestine Large	intestine
10	chr1:57370800-57374600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:57371000-57373600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:57371000-57376200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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