Variant report

Variant	rs134651
Chromosome Location	chr22:29485708-29485709
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs126077	0.92[CEU][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs134566	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs134570	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs134580	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134581	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134583	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134585	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134587	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs134589	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134590	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134591	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.82[MKK][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134593	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134597	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134611	0.95[ASN][1000 genomes]
rs134614	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134615	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134618	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs134627	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134642	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134646	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134647	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134649	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134652	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134655	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134661	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs134662	1.00[ASN][1000 genomes]
rs134665	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs134678	0.96[CEU][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs134679	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs134680	0.87[EUR][1000 genomes]
rs134681	0.81[EUR][1000 genomes]
rs134683	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs134684	0.86[EUR][1000 genomes]
rs134686	0.86[EUR][1000 genomes]
rs134688	0.96[CEU][hapmap];0.88[MEX][hapmap];0.98[TSI][hapmap];0.87[EUR][1000 genomes]
rs134689	0.96[CEU][hapmap];0.88[MEX][hapmap];0.98[TSI][hapmap];0.87[EUR][1000 genomes]
rs134690	0.87[EUR][1000 genomes]
rs134691	0.87[EUR][1000 genomes]
rs1978046	0.88[EUR][1000 genomes]
rs2049937	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2049938	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34688383	0.81[ASN][1000 genomes]
rs4823015	0.85[EUR][1000 genomes]
rs5752867	0.83[TSI][hapmap]
rs5752868	0.83[TSI][hapmap]
rs5752870	0.84[CEU][hapmap];0.85[CHB][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs134651	KREMEN1	cis	Heart Left Ventricle	GTEx
rs134651	RFPL1	cis	parietal	SCAN
rs134651	ZNRF3	cis	cerebellum	SCAN
rs134651	SLC35E4	cis	cerebellum	SCAN
rs134651	ZNF70	cis	parietal	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29470400-29485800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr22:29471400-29488000	Weak transcription	Right Ventricle	heart
3	chr22:29472400-29489000	Weak transcription	Fetal Intestine Small	intestine
4	chr22:29475000-29489200	Weak transcription	Fetal Intestine Large	intestine
5	chr22:29475600-29491000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr22:29475600-29505600	Weak transcription	Spleen	Spleen
7	chr22:29476400-29487800	Weak transcription	Brain Hippocampus Middle	brain
8	chr22:29476400-29489600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:29476600-29489400	Weak transcription	Psoas Muscle	Psoas
10	chr22:29476600-29491000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr22:29476800-29487600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr22:29476800-29494800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr22:29478600-29485800	Weak transcription	Esophagus	oesophagus
14	chr22:29478800-29485800	Weak transcription	Fetal Stomach	stomach
15	chr22:29478800-29489600	Weak transcription	Dnd41	blood
16	chr22:29478800-29490200	Weak transcription	Thymus	Thymus
17	chr22:29478800-29498200	Weak transcription	Brain Germinal Matrix	brain
18	chr22:29479600-29489200	Weak transcription	Fetal Kidney	kidney
19	chr22:29480400-29488000	Weak transcription	Fetal Thymus	thymus
20	chr22:29480600-29487400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr22:29480600-29489600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr22:29480600-29498000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr22:29480800-29487600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr22:29480800-29492400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr22:29481600-29485800	Weak transcription	Fetal Brain Female	brain
26	chr22:29483400-29550200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr22:29484200-29486600	Enhancers	Fetal Lung	lung
28	chr22:29484400-29485800	Weak transcription	Fetal Brain Male	brain
29	chr22:29484400-29485800	Enhancers	K562	blood
30	chr22:29484800-29486000	Enhancers	Fetal Muscle Leg	muscle
31	chr22:29484800-29486000	Enhancers	Ovary	ovary
32	chr22:29485200-29485800	Weak transcription	Pancreas	Pancrea
33	chr22:29485200-29486000	Enhancers	Left Ventricle	heart
34	chr22:29485200-29486000	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr22:29485400-29486000	Enhancers	Fetal Muscle Trunk	muscle
36	chr22:29485400-29486000	Enhancers	Right Atrium	heart
37	chr22:29485400-29486400	Enhancers	Brain Anterior Caudate	brain
38	chr22:29485600-29485800	Enhancers	Duodenum Mucosa	Duodenum
39	chr22:29485600-29486000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr22:29485600-29486000	Enhancers	Gastric	stomach
41	chr22:29485600-29486000	Enhancers	Lung	lung
42	chr22:29485600-29486400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr22:29485600-29486400	Enhancers	Liver	Liver

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