Variant report

Variant	rs7502875
Chromosome Location	chr17:45823227-45823228
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45811931..45814457-chr17:45821701..45824432,2	MCF-7	breast:
2	chr17:45813787..45815804-chr17:45822257..45825163,2	MCF-7	breast:
3	chr17:45819448..45824573-chr17:45826000..45830135,4	K562	blood:
4	chr17:45822955..45824573-chr17:45826064..45828065,2	K562	blood:
5	chr17:45794462..45797278-chr17:45822164..45823820,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10445375	0.94[LWK][hapmap];0.85[MKK][hapmap]
rs11079786	0.81[MKK][hapmap];0.90[YRI][hapmap]
rs11079788	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11079791	0.94[LWK][hapmap];0.85[MKK][hapmap]
rs11650354	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11650451	0.82[CEU][hapmap]
rs11653146	0.92[ASN][1000 genomes]
rs11655306	0.83[CEU][hapmap]
rs11655336	0.94[LWK][hapmap];0.85[MKK][hapmap]
rs11657388	0.91[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.94[TSI][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11657479	0.94[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11658895	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12451801	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16947078	0.94[CEU][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs41321047	0.92[ASN][1000 genomes]
rs41519545	0.92[ASN][1000 genomes]
rs56172120	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57171311	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs66490177	0.96[ASN][1000 genomes]
rs72831632	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv2071	chr17:45801503-45844229	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7502875	C17orf57	cis	parietal	SCAN
rs7502875	C17orf57	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45819200-45824000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr17:45820400-45824000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr17:45820600-45823600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr17:45820600-45823800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr17:45820600-45826200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr17:45820600-45830400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr17:45821200-45823800	Enhancers	Dnd41	blood
8	chr17:45821600-45823800	Enhancers	K562	blood
9	chr17:45821600-45824400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr17:45821800-45823400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr17:45821800-45823600	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr17:45821800-45823600	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr17:45822000-45823400	Enhancers	Primary hematopoietic stem cells	blood
14	chr17:45822000-45823600	Strong transcription	Primary B cells from peripheral blood	blood
15	chr17:45822800-45823400	Strong transcription	GM12878-XiMat	blood
16	chr17:45822800-45823800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr17:45822800-45825200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr17:45822800-45825200	Weak transcription	Spleen	Spleen
19	chr17:45823000-45825800	Strong transcription	Primary T cells fromperipheralblood	blood

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