Variant report

Variant	rs7050592
Chromosome Location	chrX:64885677-64885678
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chrX:64885511-64885687	GM12878	blood:	n/a	n/a
2	RELA	chrX:64885395-64885813	GM19099	blood:	n/a	n/a
3	RUNX3	chrX:64885576-64885797	GM12878	blood:	n/a	n/a
4	RUNX3	chrX:64885449-64885914	GM12878	blood:	n/a	n/a
5	EP300	chrX:64885577-64885778	GM12878	blood:	n/a	n/a
6	NFIC	chrX:64885531-64885864	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:64884492..64886424-chrX:64899795..64901749,2	K562	blood:

Variant related genes	Relation type
MSN	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12009586	1.00[YRI][hapmap]
rs12395619	1.00[TSI][hapmap]
rs12397033	1.00[ASW][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap]
rs1332720	1.00[YRI][hapmap]
rs13731	0.83[LWK][hapmap];1.00[YRI][hapmap]
rs16989666	1.00[MEX][hapmap]
rs16989770	1.00[GIH][hapmap]
rs2038284	1.00[ASW][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs2038285	1.00[ASW][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap]
rs4535877	1.00[TSI][hapmap]
rs5918955	1.00[YRI][hapmap]
rs5918956	1.00[YRI][hapmap]
rs5964442	1.00[ASW][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs5964443	0.91[ASW][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap]
rs5964999	1.00[ASW][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs5965003	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs5965004	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs5965006	0.87[GIH][hapmap];1.00[MEX][hapmap]
rs5965007	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs5965030	0.87[GIH][hapmap];1.00[MEX][hapmap]
rs6524991	1.00[MEX][hapmap]
rs6525003	1.00[YRI][hapmap]
rs6525004	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs6525006	1.00[ASW][hapmap];0.87[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs6525007	1.00[ASW][hapmap];0.87[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs6624812	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs6624813	1.00[YRI][hapmap]
rs6624823	0.83[ASW][hapmap];1.00[MEX][hapmap]
rs6653221	1.00[YRI][hapmap]
rs7051717	1.00[ASW][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs7053565	1.00[YRI][hapmap]
rs7061281	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs7065069	1.00[TSI][hapmap]
rs7887261	1.00[GIH][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	nsv817451	chrX:64049597-64916072	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv3429625	chrX:64787230-65458721	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv869900	chrX:64885384-64942167	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:64877800-64886400	Weak transcription	Primary T cells fromperipheralblood	blood
2	chrX:64877800-64886600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chrX:64877800-64886800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chrX:64878200-64886600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chrX:64885200-64886000	Enhancers	Lung	lung
6	chrX:64885400-64887000	Weak transcription	Right Atrium	heart
7	chrX:64885400-64887000	Weak transcription	Spleen	Spleen
8	chrX:64885600-64885800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chrX:64885600-64885800	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chrX:64885600-64886000	Enhancers	Hela-S3	cervix
11	chrX:64885600-64886600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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