Variant report

Variant	rs12006623
Chromosome Location	chrX:31442307-31442308
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16989625	0.82[CEU][hapmap];0.90[TSI][hapmap]
rs17338514	0.82[CEU][hapmap];0.88[CHB][hapmap]
rs17338542	0.82[CEU][hapmap]
rs2178617	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap]
rs5972387	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs6527086	0.82[CEU][hapmap];0.90[TSI][hapmap]
rs7054748	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap]
rs7879959	0.82[CEU][hapmap]
rs7883354	0.82[CEU][hapmap]
rs7886117	0.82[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	esv2758567	chrX:31363616-31519148	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3447095	chrX:31441731-31519629	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:31441600-31442600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chrX:31441600-31442800	Flanking Active TSS	Hela-S3	cervix
3	chrX:31441800-31442400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chrX:31441800-31442400	Active TSS	Brain Anterior Caudate	brain
5	chrX:31441800-31442400	Enhancers	Fetal Heart	heart
6	chrX:31441800-31442600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chrX:31441800-31442600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chrX:31441800-31442600	Bivalent/Poised TSS	Fetal Lung	lung
9	chrX:31441800-31442600	Enhancers	HSMMtube	muscle
10	chrX:31441800-31442600	Enhancers	NHDF-Ad	bronchial
11	chrX:31442000-31442400	Enhancers	Adipose Nuclei	Adipose
12	chrX:31442200-31442600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chrX:31442200-31442600	Enhancers	Muscle Satellite Cultured Cells	--
14	chrX:31442200-31442600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chrX:31442200-31442600	Enhancers	Ovary	ovary

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dbSNP/dbVar ID: rs12345 /nsv7879
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