Variant report

Variant	rs12094275
Chromosome Location	chr1:57791028-57791029
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs169169	1.00[EUR][1000 genomes]
rs17115834	1.00[EUR][1000 genomes]
rs17115844	1.00[EUR][1000 genomes]
rs267645	0.96[AFR][1000 genomes]
rs269041	1.00[EUR][1000 genomes]
rs269043	1.00[EUR][1000 genomes]
rs269047	1.00[EUR][1000 genomes]
rs269053	1.00[EUR][1000 genomes]
rs269055	1.00[EUR][1000 genomes]
rs269056	1.00[EUR][1000 genomes]
rs3844040	1.00[EUR][1000 genomes]
rs475078	1.00[EUR][1000 genomes]
rs486804	1.00[EUR][1000 genomes]
rs497367	1.00[EUR][1000 genomes]
rs523282	1.00[EUR][1000 genomes]
rs534715	1.00[EUR][1000 genomes]
rs537659	1.00[EUR][1000 genomes]
rs539257	1.00[EUR][1000 genomes]
rs566802	1.00[EUR][1000 genomes]
rs57855581	1.00[EUR][1000 genomes]
rs58121843	1.00[EUR][1000 genomes]
rs60825740	1.00[EUR][1000 genomes]
rs72909285	1.00[EUR][1000 genomes]
rs72909297	1.00[EUR][1000 genomes]
rs72911219	1.00[EUR][1000 genomes]
rs7548078	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv871943	chr1:57784144-57855876	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57785200-57793800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:57787200-57793800	Weak transcription	Fetal Brain Male	brain
3	chr1:57789800-57792400	Enhancers	Fetal Intestine Small	intestine
4	chr1:57789800-57792600	Enhancers	Fetal Intestine Large	intestine
5	chr1:57790200-57791200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:57790200-57792400	Enhancers	Duodenum Mucosa	Duodenum
7	chr1:57790400-57791200	Enhancers	Left Ventricle	heart
8	chr1:57790400-57791200	Enhancers	Right Ventricle	heart
9	chr1:57790400-57791200	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr1:57790400-57791800	Enhancers	Liver	Liver
11	chr1:57790400-57792000	Enhancers	HepG2	liver
12	chr1:57790400-57792400	Enhancers	Rectal Smooth Muscle	rectum
13	chr1:57790400-57793400	Enhancers	Colon Smooth Muscle	Colon
14	chr1:57790800-57792800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:57790800-57793200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:57791000-57791200	Enhancers	Fetal Brain Female	brain
17	chr1:57791000-57791800	Enhancers	Fetal Heart	heart

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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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