Variant report

Variant	rs7794215
Chromosome Location	chr7:11477364-11477365
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10224183	0.91[CEU][hapmap]
rs12670599	0.82[JPT][hapmap]
rs17623777	0.82[JPT][hapmap]
rs1859225	0.87[CHB][hapmap]
rs1968059	0.81[CHB][hapmap];0.82[YRI][hapmap]
rs1978137	0.88[JPT][hapmap]
rs2018144	0.82[YRI][hapmap]
rs2023868	0.84[CHB][hapmap]
rs2023869	0.80[YRI][hapmap]
rs2107156	0.85[ASN][1000 genomes]
rs2189352	0.81[CHB][hapmap]
rs2285757	0.81[CHB][hapmap]
rs4720983	0.81[CHB][hapmap]
rs6956916	0.88[JPT][hapmap]
rs6975177	0.88[JPT][hapmap]
rs6975407	0.81[CHB][hapmap]
rs757234	0.91[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[ASN][1000 genomes]
rs7777321	0.88[JPT][hapmap]
rs7792678	0.91[CEU][hapmap]
rs7796686	0.91[CEU][hapmap]
rs7807165	0.91[EUR][1000 genomes]
rs7810604	0.82[JPT][hapmap]
rs7811313	0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019888	chr7:10712858-11496785	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1029836	chr7:10713523-11492751	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv538730	chr7:10713523-11492751	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1024171	chr7:10810444-11559156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv817291	chr7:10875417-11562683	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv1028326	chr7:11221209-11754436	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv538733	chr7:11221209-11754436	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv830902	chr7:11336527-11523904	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv830903	chr7:11384957-11586376	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1032865	chr7:11395480-11477467	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1023665	chr7:11457493-11773517	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv887606	chr7:11473561-11771288	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7794215	POLB	trans	brain	seeQTL
rs7794215	THSD7A	cis	parietal	SCAN
rs7794215	SEL1L3	trans	brain	seeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11464800-11485000	Weak transcription	Placenta	Placenta
2	chr7:11464800-11513400	Weak transcription	Fetal Kidney	kidney
3	chr7:11468800-11500200	Weak transcription	Pancreas	Pancrea
4	chr7:11470600-11479200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:11474800-11477800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:11476200-11478200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr7:11476400-11477800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr7:11476400-11477800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr7:11476600-11477400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:11476600-11495600	Weak transcription	A549	lung
11	chr7:11476800-11477400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr7:11476800-11478200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:11477000-11477800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr7:11477000-11483600	Weak transcription	Fetal Lung	lung
15	chr7:11477200-11477400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr7:11477200-11482000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:11477200-11489000	Weak transcription	Liver	Liver

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