Variant report

Variant	rs12012589
Chromosome Location	chrX:80009762-80009763
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12012250	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6524017	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs6616701	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6622355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs6622362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][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	nsv916218	chrX:79377399-80230929	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv532882	chrX:79884715-80017999	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv524776	chrX:79903169-80012807	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv33127	chrX:79989618-80370141	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv528109	chrX:79992623-80012807	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:79950600-80012000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chrX:79954800-80022200	Weak transcription	Fetal Intestine Small	intestine
3	chrX:79960200-80020600	Weak transcription	Hela-S3	cervix
4	chrX:79965600-80034200	Weak transcription	Left Ventricle	heart
5	chrX:79979600-80022400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chrX:79981600-80012200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chrX:79982800-80011200	Weak transcription	Pancreas	Pancrea
8	chrX:79990800-80021800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chrX:79991000-80019800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chrX:79999800-80020600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chrX:79999800-80032000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chrX:80000400-80045800	Weak transcription	Dnd41	blood
13	chrX:80006000-80022200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chrX:80006400-80030200	Weak transcription	Primary B cells from cord blood	blood
15	chrX:80006600-80021600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chrX:80008000-80014200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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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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