Variant report

Variant	rs2692976
Chromosome Location	chrX:31355988-31355989
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2692974	0.92[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];0.86[LWK][hapmap];0.83[MEX][hapmap];0.94[MKK][hapmap];0.85[TSI][hapmap];0.87[YRI][hapmap]
rs2692983	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs2692987	1.00[CEU][hapmap];0.80[CHB][hapmap]
rs2692988	1.00[CEU][hapmap];0.83[CHB][hapmap];0.84[CHD][hapmap];0.97[GIH][hapmap];0.97[TSI][hapmap]
rs2692992	0.92[CHB][hapmap];0.84[CHD][hapmap];0.82[GIH][hapmap];0.84[JPT][hapmap]
rs2733467	0.83[CHB][hapmap];0.84[CHD][hapmap];0.84[JPT][hapmap]
rs2733472	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs5927721	0.92[CHB][hapmap]
rs5927722	0.91[CHB][hapmap]
rs5927723	0.83[CHB][hapmap]
rs5927730	0.85[CHB][hapmap];0.82[CHD][hapmap];0.85[GIH][hapmap]
rs5972377	0.90[CHB][hapmap];0.92[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530449	chrX:30962926-31375215	Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv869389	chrX:31207964-31963300	Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv481896	chrX:31212683-31546984	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3407256	chrX:31214281-31548379	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv481964	chrX:31270220-31672751	Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:31345400-31356000	Weak transcription	Aorta	Aorta
2	chrX:31352200-31357200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chrX:31352400-31357600	Enhancers	Liver	Liver
4	chrX:31355600-31356000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chrX:31355600-31356000	Enhancers	Adipose Nuclei	Adipose
6	chrX:31355600-31356000	Enhancers	Colon Smooth Muscle	Colon
7	chrX:31355600-31356000	Enhancers	Fetal Heart	heart
8	chrX:31355600-31356200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chrX:31355600-31356200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chrX:31355600-31356200	Enhancers	Rectal Smooth Muscle	rectum
11	chrX:31355600-31357400	Enhancers	HSMMtube	muscle
12	chrX:31355800-31356000	Flanking Active TSS	Brain Anterior Caudate	brain
13	chrX:31355800-31356000	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chrX:31355800-31356000	Enhancers	NHDF-Ad	bronchial
15	chrX:31355800-31356200	Enhancers	Brain Angular Gyrus	brain
16	chrX:31355800-31356200	Enhancers	Fetal Stomach	stomach
17	chrX:31355800-31357400	Enhancers	Osteobl	bone
18	chrX:31355800-31357600	Enhancers	Stomach Smooth Muscle	stomach

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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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