Variant report

Variant	rs10494677
Chromosome Location	chr1:192884136-192884137
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10494676	1.00[EUR][1000 genomes]
rs10921281	0.83[EUR][1000 genomes]
rs10921284	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10921288	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12076933	0.83[EUR][1000 genomes]
rs12087043	0.83[EUR][1000 genomes]
rs12531	1.00[CHD][hapmap]
rs16834924	0.83[EUR][1000 genomes]
rs16834945	0.89[EUR][1000 genomes]
rs1770915	1.00[CHD][hapmap]
rs1775687	1.00[CHD][hapmap]
rs2370026	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56921005	0.94[EUR][1000 genomes]
rs58637690	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60641679	0.83[EUR][1000 genomes]
rs61394494	0.83[EUR][1000 genomes]
rs7523033	1.00[CHD][hapmap];0.87[TSI][hapmap];0.83[EUR][1000 genomes]
rs7530747	0.83[EUR][1000 genomes]
rs7542329	0.83[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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv519451	chr1:192880701-192888345	Enhancers Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192875400-192889200	Weak transcription	Pancreas	Pancrea
2	chr1:192881400-192884400	Enhancers	HSMMtube	muscle
3	chr1:192882000-192884400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:192882000-192884400	Enhancers	Stomach Mucosa	stomach
5	chr1:192883000-192884200	Enhancers	Colon Smooth Muscle	Colon
6	chr1:192883000-192884200	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr1:192883000-192884400	Enhancers	Rectal Smooth Muscle	rectum
8	chr1:192883200-192884200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:192883200-192884400	Enhancers	Liver	Liver
10	chr1:192883200-192884400	Enhancers	A549	lung
11	chr1:192883600-192884200	Enhancers	Duodenum Mucosa	Duodenum
12	chr1:192883600-192887600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:192884000-192884200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:192884000-192884200	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr1:192884000-192884200	Enhancers	Small Intestine	intestine
16	chr1:192884000-192887800	Weak transcription	NHEK	skin

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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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