Variant report

Variant	rs695271
Chromosome Location	chr22:34002731-34002732
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs135116	0.89[GIH][hapmap]
rs20301	0.89[GIH][hapmap];0.80[MEX][hapmap]
rs2283921	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs240594	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2413196	0.89[ASW][hapmap];0.96[CEU][hapmap];0.85[JPT][hapmap];0.81[LWK][hapmap];0.83[MEX][hapmap];0.80[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs695504	0.89[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs86487	0.80[ASW][hapmap];0.92[CEU][hapmap];0.81[JPT][hapmap];0.81[LWK][hapmap];0.80[TSI][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948523	chr22:33414164-34098417	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1062127	chr22:33755479-34085278	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv544683	chr22:33755479-34085278	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv531588	chr22:33776857-34150188	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv914983	chr22:33800119-34035034	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1060283	chr22:33809137-34043739	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
8	nsv544684	chr22:33809137-34043739	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1055791	chr22:33822226-34159536	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1065417	chr22:33823850-34053325	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
11	nsv933309	chr22:33825232-34053000	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
12	esv2763261	chr22:33831348-34288389	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
13	nsv917167	chr22:33852676-34137036	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv1062832	chr22:33861531-34143295	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv544686	chr22:33861531-34143295	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv914987	chr22:33920421-34047427	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv1057450	chr22:33928913-34849012	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
18	nsv588934	chr22:33965639-34035034	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv914988	chr22:33975998-34083987	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	nsv934161	chr22:33979015-34118621	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs695271	CABP7	cis	cerebellum	SCAN
rs695271	C22orf30	cis	parietal	SCAN
rs695271	APOL6	cis	parietal	SCAN

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33965200-34045800	Weak transcription	Pancreas	Pancrea
2	chr22:33981800-34006200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr22:33981800-34006800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr22:33985400-34009400	Weak transcription	GM12878-XiMat	blood
5	chr22:33988600-34019200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr22:33988600-34020800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr22:33989400-34005800	Weak transcription	Colon Smooth Muscle	Colon
8	chr22:33989600-34020400	Weak transcription	Fetal Intestine Large	intestine
9	chr22:33990000-34006200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr22:33990400-34003000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr22:33992200-34006800	Weak transcription	Fetal Intestine Small	intestine
12	chr22:33994000-34006000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr22:33994000-34029600	Weak transcription	Aorta	Aorta
14	chr22:33994200-34010600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr22:33994200-34020600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr22:33994200-34050600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr22:33994400-34003600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr22:33995600-34008200	Weak transcription	HSMMtube	muscle
19	chr22:33995800-34007000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr22:33995800-34049800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr22:33996000-34006600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr22:33996200-34005800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr22:33996400-34006800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr22:33998200-34002800	Weak transcription	Esophagus	oesophagus
25	chr22:34000000-34006400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr22:34000400-34003000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr22:34000400-34003000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr22:34000600-34003000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr22:34000600-34006600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr22:34000600-34006600	Weak transcription	Fetal Stomach	stomach
31	chr22:34000600-34006800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr22:34000600-34014600	Weak transcription	Liver	Liver
33	chr22:34000600-34014800	Weak transcription	Ovary	ovary
34	chr22:34000600-34015200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr22:34000600-34017800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr22:34000800-34003200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr22:34001200-34003000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr22:34001800-34003000	Enhancers	Right Atrium	heart
39	chr22:34001800-34006600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr22:34001800-34017600	Weak transcription	Primary B cells from peripheral blood	blood
41	chr22:34002000-34006800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr22:34002000-34008200	Weak transcription	Stomach Mucosa	stomach
43	chr22:34002400-34002800	Weak transcription	Gastric	stomach
44	chr22:34002400-34005600	Enhancers	Left Ventricle	heart
45	chr22:34002600-34003000	Flanking Active TSS	Fetal Heart	heart
46	chr22:34002600-34003000	ZNF genes & repeats	Lung	lung
47	chr22:34002600-34003000	Enhancers	NHDF-Ad	bronchial
48	chr22:34002600-34004600	Enhancers	Right Ventricle	heart

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