Variant report

Variant	rs5954997
Chromosome Location	chrX:138985337-138985338
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:138984585..138987395-chrX:138988668..138990318,2	K562	blood:
2	chrX:138985114..138987559-chrX:139013389..139015006,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10126150	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs12389012	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs12688688	0.86[YRI][hapmap]
rs17282011	0.86[YRI][hapmap]
rs1890241	0.89[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs5908152	1.00[YRI][hapmap]
rs5953748	0.86[YRI][hapmap]
rs5953790	0.86[YRI][hapmap]
rs5953791	1.00[YRI][hapmap]
rs5953812	1.00[YRI][hapmap]
rs5954540	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs5954556	1.00[YRI][hapmap]
rs5954768	1.00[ASW][hapmap];1.00[LWK][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap]
rs5954897	1.00[YRI][hapmap]
rs5955049	1.00[YRI][hapmap]
rs6635927	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][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:21 , 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:138979400-138988000	Weak transcription	Primary T cells from cord blood	blood
3	chrX:138980800-138989400	Weak transcription	Liver	Liver
4	chrX:138981600-138991600	Weak transcription	Primary B cells from cord blood	blood
5	chrX:138982200-138990000	Weak transcription	Fetal Stomach	stomach
6	chrX:138982800-138985600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chrX:138983600-138987000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chrX:138983600-138988000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chrX:138983600-138991400	Weak transcription	Spleen	Spleen
10	chrX:138983800-138985600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chrX:138984000-138985400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chrX:138984000-138985600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chrX:138984400-138985400	Enhancers	Stomach Mucosa	stomach
14	chrX:138984400-138985600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chrX:138984800-138985400	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chrX:138985000-138985400	Enhancers	Fetal Heart	heart
17	chrX:138985200-138985600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chrX:138985200-138985600	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chrX:138985200-138986000	Enhancers	Fetal Intestine Large	intestine
20	chrX:138985200-138986200	Enhancers	Fetal Intestine Small	intestine
21	chrX:138985200-138988600	Enhancers	Hela-S3	cervix

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