Variant report

Variant	rs5972417
Chromosome Location	chrX:31627902-31627903
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10521969	1.00[JPT][hapmap]
rs10521976	1.00[JPT][hapmap]
rs12687271	1.00[JPT][hapmap]
rs12687451	1.00[JPT][hapmap]
rs12687453	1.00[JPT][hapmap]
rs12687510	1.00[JPT][hapmap]
rs12687514	1.00[JPT][hapmap]
rs12689288	1.00[JPT][hapmap]
rs1497441	1.00[JPT][hapmap]
rs16989652	1.00[JPT][hapmap]
rs16989672	1.00[JPT][hapmap]
rs16989684	1.00[JPT][hapmap]
rs16989685	1.00[JPT][hapmap]
rs16989687	1.00[JPT][hapmap]
rs16989790	1.00[JPT][hapmap]
rs16989800	1.00[JPT][hapmap]
rs17283225	1.00[JPT][hapmap]
rs17283259	1.00[JPT][hapmap]
rs17330034	1.00[JPT][hapmap]
rs17330041	1.00[JPT][hapmap]
rs2030003	1.00[JPT][hapmap]
rs2030004	1.00[JPT][hapmap]
rs2030005	1.00[JPT][hapmap]
rs3788892	1.00[CHB][hapmap]
rs3827455	1.00[JPT][hapmap]
rs4478725	1.00[JPT][hapmap]
rs4606217	1.00[CHB][hapmap]
rs5971580	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs5971585	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5971593	1.00[JPT][hapmap]
rs5972419	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5972422	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap]
rs5972426	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs6527109	1.00[JPT][hapmap]
rs6527113	1.00[JPT][hapmap]
rs6628627	1.00[JPT][hapmap]
rs6628628	1.00[JPT][hapmap]
rs6631344	1.00[JPT][hapmap]
rs6631371	1.00[JPT][hapmap]
rs6631375	1.00[JPT][hapmap]
rs7049593	1.00[JPT][hapmap]
rs7061865	1.00[JPT][hapmap]
rs7065457	1.00[JPT][hapmap]
rs766671	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
3	nsv531098	chrX:31462522-31824884	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv481719	chrX:31470100-31807209	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv481814	chrX:31566314-32058570	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv521457	chrX:31580537-31634092	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv481764	chrX:31587315-31944285	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv481778	chrX:31604303-31983342	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv520230	chrX:31611075-31919659	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv481755	chrX:31616904-31927606	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv481902	chrX:31619444-32462711	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:31625600-31628000	Weak transcription	Liver	Liver
2	chrX:31626200-31628200	Enhancers	HMEC	breast
3	chrX:31626400-31628200	Enhancers	NHEK	skin
4	chrX:31626800-31628000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chrX:31626800-31628000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chrX:31626800-31628200	Enhancers	Muscle Satellite Cultured Cells	--
7	chrX:31626800-31628200	Enhancers	Hela-S3	cervix
8	chrX:31627600-31628200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chrX:31627800-31628000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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