Variant report

Variant	rs12234967
Chromosome Location	chr8:130470392-130470393
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10087235	1.00[JPT][hapmap]
rs10094748	1.00[JPT][hapmap]
rs10104020	1.00[JPT][hapmap]
rs10956474	1.00[JPT][hapmap]
rs10956476	1.00[JPT][hapmap]
rs12164231	0.94[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12335056	1.00[JPT][hapmap]
rs13265608	1.00[ASW][hapmap]
rs16904080	1.00[JPT][hapmap]
rs17262815	1.00[JPT][hapmap]
rs1897449	1.00[JPT][hapmap]
rs919702	1.00[JPT][hapmap]
rs9297787	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs9297788	0.83[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][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	nsv1015611	chr8:130449321-130502086	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130459400-130471800	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr8:130463400-130470400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:130464600-130471800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:130465400-130472000	Genic enhancers	K562	blood
5	chr8:130468800-130471400	Weak transcription	Dnd41	blood
6	chr8:130469600-130470800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:130470000-130471000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr8:130470200-130470400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr8:130470200-130470400	Enhancers	HSMMtube	muscle
10	chr8:130470200-130470600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr8:130470200-130470600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr8:130470200-130470800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr8:130470200-130470800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:130470200-130471000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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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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