Variant report

Variant	rs2485724
Chromosome Location	chrX:138967742-138967743
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs12687833	0.90[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[JPT][hapmap];0.84[LWK][hapmap];0.83[MKK][hapmap]
rs12688014	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs12688450	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs12688688	1.00[CHB][hapmap]
rs12688705	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs12689725	1.00[CHB][hapmap]
rs1338059	1.00[CHB][hapmap]
rs1361155	1.00[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap]
rs1415887	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs17281969	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs17281990	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs17282011	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs17282039	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs17282067	1.00[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap]
rs17282081	1.00[CHB][hapmap]
rs17328640	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs17328647	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs17328703	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs17328709	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs2183251	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2252290	1.00[CHB][hapmap]
rs2485721	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2485722	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs2485728	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2485729	1.00[CHB][hapmap];0.82[CHD][hapmap];0.81[JPT][hapmap]
rs2485732	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs2485733	1.00[CHB][hapmap]
rs2491005	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs2491006	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs2491009	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs2497266	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs2497273	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs2497274	0.87[CHB][hapmap];0.86[CHD][hapmap]
rs2497277	1.00[CHB][hapmap];0.82[CHD][hapmap]
rs2497280	1.00[CHB][hapmap]
rs2497281	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2497282	1.00[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap]
rs2497284	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs2772192	1.00[CHB][hapmap]
rs2772194	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs2805901	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs2805902	1.00[CHB][hapmap]
rs4239992	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs5908669	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs5953621	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs5953643	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs5953692	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs5953748	1.00[CHB][hapmap]
rs5953790	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs5954529	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs5954562	1.00[CHB][hapmap]
rs5954594	1.00[CHB][hapmap]
rs6528650	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs6528651	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs6635906	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap]
rs7061584	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs7885696	1.00[CHB][hapmap];0.86[CHD][hapmap]

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	nsv532936	chrX:138687855-139384681	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
2	nsv491760	chrX:138780768-139283477	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
3	nsv917353	chrX:138912620-139283492	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	146 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:138941800-138988200	Weak transcription	Primary T cells fromperipheralblood	blood
2	chrX:138949000-138978800	Weak transcription	Fetal Intestine Small	intestine
3	chrX:138955200-138973600	Weak transcription	Primary B cells from peripheral blood	blood
4	chrX:138956400-138975000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chrX:138959800-138976400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chrX:138964400-138971800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chrX:138964400-138971800	Weak transcription	K562	blood
8	chrX:138964800-138973000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chrX:138965000-138971600	Weak transcription	NHLF	lung
10	chrX:138965000-138971800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chrX:138965000-138972200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chrX:138965000-138972200	Weak transcription	HSMM	muscle
13	chrX:138965000-138972800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chrX:138965200-138971600	Weak transcription	NH-A	brain
15	chrX:138965600-138971800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chrX:138965600-138974800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chrX:138966600-138971400	Weak transcription	NHDF-Ad	bronchial
18	chrX:138967400-138968200	Enhancers	HUVEC	blood vessel

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