Variant report

Variant	rs7935617
Chromosome Location	chr11:8844065-8844066
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10769961	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10769965	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840120	0.84[CHD][hapmap]
rs10840128	0.89[CEU][hapmap]
rs10840131	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042085	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11042087	1.00[ASN][1000 genomes]
rs11042089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12269980	0.84[CHD][hapmap]
rs12419731	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12420964	0.81[CHD][hapmap]
rs13377459	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2243566	0.81[CHD][hapmap]
rs2316863	0.94[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3763917	0.87[CHD][hapmap]
rs3763919	0.84[CHD][hapmap]
rs3913547	0.84[CHD][hapmap]
rs4244805	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4929918	0.94[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4929919	0.92[ASN][1000 genomes]
rs6484606	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7127564	0.98[ASN][1000 genomes]
rs7131166	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.98[ASN][1000 genomes]
rs7930737	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7930878	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947553	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv527920	chr11:8816695-8856822	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv527073	chr11:8829168-8848463	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7935617	WEE1	cis	parietal	SCAN
rs7935617	RPL27A	cis	cerebellum	SCAN
rs7935617	PARVA	cis	cerebellum	SCAN
rs7935617	CSNK2A1P	cis	cerebellum	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8833200-8859800	Weak transcription	Aorta	Aorta
2	chr11:8835600-8845000	Weak transcription	Psoas Muscle	Psoas
3	chr11:8835600-8848800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr11:8836200-8844200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:8836200-8848000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:8836400-8847600	Weak transcription	Fetal Muscle Leg	muscle
7	chr11:8836400-8849800	Weak transcription	Fetal Intestine Small	intestine
8	chr11:8836600-8850400	Weak transcription	Fetal Lung	lung
9	chr11:8836800-8847600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:8836800-8848600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:8837000-8850000	Weak transcription	Lung	lung
12	chr11:8837200-8847000	Weak transcription	HSMMtube	muscle
13	chr11:8837200-8847200	Weak transcription	NHDF-Ad	bronchial
14	chr11:8837200-8847600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:8837200-8847600	Weak transcription	Fetal Kidney	kidney
16	chr11:8837200-8848000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:8837200-8848600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:8837400-8847000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:8837400-8847200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:8837400-8848000	Weak transcription	NHEK	skin
21	chr11:8837600-8847200	Weak transcription	NHLF	lung
22	chr11:8837800-8848400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr11:8838000-8848400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:8838600-8844800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:8839000-8849400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:8839200-8847800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:8839200-8849600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:8841000-8847800	Weak transcription	Fetal Stomach	stomach
29	chr11:8841400-8844800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr11:8843200-8845000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr11:8843800-8844400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr11:8843800-8844600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:8843800-8844600	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr11:8843800-8844600	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr11:8843800-8844600	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr11:8844000-8844400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:8844000-8844400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr11:8844000-8844600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr11:8844000-8844600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:8844000-8848000	Weak transcription	H1 Cell Line	embryonic stem cell

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