Variant report

Variant	rs713861
Chromosome Location	chr22:29485794-29485795
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12329960	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs134560	0.85[MEX][hapmap]
rs134564	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs134577	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs134588	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs134592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs134596	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs134598	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs134605	1.00[GIH][hapmap];0.81[TSI][hapmap]
rs134607	1.00[GIH][hapmap];0.81[TSI][hapmap]
rs134608	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs134609	1.00[GIH][hapmap];0.81[TSI][hapmap]
rs134622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs134630	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs134631	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134636	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134637	0.86[GIH][hapmap];0.81[TSI][hapmap]
rs134641	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134644	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134657	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134660	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134666	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs134669	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs134670	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs134672	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs134676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs134677	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs20037	1.00[GIH][hapmap];0.81[TSI][hapmap]
rs4347951	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5752864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7292708	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs783	0.81[TSI][hapmap]

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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs713861	TBC1D10A	cis	cerebellum	SCAN
rs713861	EMID1	cis	cerebellum	SCAN
rs713861	KREMEN1	cis	Heart Left Ventricle	GTEx
rs713861	MORC2	cis	cerebellum	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

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links