Variant report

Variant	rs7107211
Chromosome Location	chr11:120262922-120262923
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120256139..120258853-chr11:120261413..120263735,2	K562	blood:

Extended variants
information (count: 113 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10502235	0.91[CHB][hapmap];0.94[JPT][hapmap]
rs10750172	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10750173	1.00[CEU][hapmap];0.84[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10750174	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10790378	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10790380	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10790381	0.87[ASN][1000 genomes]
rs10790382	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10790383	1.00[CEU][hapmap];0.84[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs10892562	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10892563	0.92[CEU][hapmap];0.82[CHB][hapmap];0.89[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10892564	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10892565	0.84[ASN][1000 genomes]
rs10892566	1.00[CEU][hapmap];0.84[JPT][hapmap];0.90[YRI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10892567	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10892569	0.87[ASN][1000 genomes]
rs10892570	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10892574	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10892575	0.85[ASN][1000 genomes]
rs10892576	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10892578	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10892582	0.89[EUR][1000 genomes]
rs11217821	0.88[CEU][hapmap];0.84[JPT][hapmap];0.88[LWK][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.80[YRI][hapmap];0.83[AMR][1000 genomes]
rs11217840	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11217841	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11217843	0.87[ASN][1000 genomes]
rs11217852	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11217857	0.87[ASN][1000 genomes]
rs11217866	0.85[ASN][1000 genomes]
rs11217874	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11217875	1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs11217878	0.81[ASN][1000 genomes]
rs11217887	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11600703	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11601535	0.91[CEU][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes]
rs11823264	0.85[ASN][1000 genomes]
rs11827818	0.82[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs12270397	0.87[ASN][1000 genomes]
rs12361632	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12417256	0.80[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12417581	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12420378	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12787285	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12794618	0.85[ASN][1000 genomes]
rs12794946	0.87[EUR][1000 genomes]
rs12806740	0.88[CEU][hapmap];0.84[JPT][hapmap];0.82[LWK][hapmap];0.96[MEX][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes]
rs12807097	0.85[ASN][1000 genomes]
rs1373270	0.89[EUR][1000 genomes]
rs17123861	0.87[ASN][1000 genomes]
rs1892894	1.00[CEU][hapmap];0.84[JPT][hapmap];0.98[LWK][hapmap];0.96[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1893261	0.88[CEU][hapmap];0.84[JPT][hapmap];0.96[MEX][hapmap];0.86[TSI][hapmap];0.83[AMR][1000 genomes]
rs2276035	0.92[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs2305008	0.83[ASW][hapmap];1.00[CEU][hapmap];0.84[JPT][hapmap];0.81[LWK][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2305010	1.00[CEU][hapmap];0.84[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34298380	0.82[AMR][1000 genomes]
rs36011588	0.81[AMR][1000 genomes]
rs4381380	0.94[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.82[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.98[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4539328	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4936517	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4936518	0.84[ASN][1000 genomes]
rs4938799	0.92[CEU][hapmap];0.84[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4938801	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4938803	0.87[ASN][1000 genomes]
rs4938804	0.83[ASW][hapmap];1.00[CEU][hapmap];0.84[JPT][hapmap];0.86[LWK][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4938805	0.96[CEU][hapmap];0.84[JPT][hapmap];0.90[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4938806	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4938807	1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs4938808	0.88[ASW][hapmap];1.00[CEU][hapmap];0.84[JPT][hapmap];0.85[LWK][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61898351	0.83[AMR][1000 genomes]
rs6589810	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6589811	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6589812	0.83[ASW][hapmap];1.00[CEU][hapmap];0.84[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6589813	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7101415	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7104639	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7115714	0.94[AFR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7117063	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7117321	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7118391	0.82[ASW][hapmap];0.93[TSI][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7121779	0.92[CEU][hapmap];0.84[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7126328	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7129944	1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs7131046	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7131597	1.00[CEU][hapmap];0.84[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs723937	1.00[CEU][hapmap];0.84[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7478880	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7924772	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7924963	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7924975	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7932037	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7932658	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7933086	1.00[CEU][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7937612	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7939137	1.00[CEU][hapmap];0.84[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs7948928	1.00[CEU][hapmap];0.84[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7951250	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7952529	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs894839	1.00[CEU][hapmap];0.84[JPT][hapmap];0.83[LWK][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.90[EUR][1000 genomes]
rs9633919	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9633950	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv529003	chr11:120209386-120355230	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1050935	chr11:120224544-120276373	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1036694	chr11:120230243-120285603	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1037573	chr11:120230243-120286918	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1047982	chr11:120238962-120276373	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1050789	chr11:120238962-120286918	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1046430	chr11:120238962-120294026	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1043248	chr11:120238962-120299598	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1051672	chr11:120238962-120314178	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1050709	chr11:120246224-120276373	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1051783	chr11:120246224-120314178	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7107211	TMEM136	cis	parietal	SCAN
rs7107211	ARHGEF12	cis	cerebellum	SCAN

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120232000-120274800	Weak transcription	Ovary	ovary
2	chr11:120254600-120265000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:120254600-120266400	Weak transcription	Gastric	stomach
4	chr11:120254600-120271000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:120257800-120263200	Weak transcription	NHLF	lung
6	chr11:120258000-120263000	Weak transcription	Osteobl	bone
7	chr11:120258000-120263400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr11:120260600-120263200	Enhancers	Liver	Liver
9	chr11:120260800-120263000	Enhancers	Stomach Mucosa	stomach
10	chr11:120260800-120263600	Enhancers	Fetal Intestine Large	intestine
11	chr11:120260800-120263600	Enhancers	HMEC	breast
12	chr11:120260800-120263800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:120260800-120263800	Enhancers	Fetal Intestine Small	intestine
14	chr11:120261000-120263200	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr11:120261000-120263600	Enhancers	Adipose Nuclei	Adipose
16	chr11:120261000-120263600	Enhancers	Brain Hippocampus Middle	brain
17	chr11:120261000-120263600	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr11:120261000-120263800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr11:120261000-120263800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:120261000-120263800	Enhancers	Brain Cingulate Gyrus	brain
21	chr11:120261000-120264000	Enhancers	Brain Anterior Caudate	brain
22	chr11:120261200-120263600	Enhancers	Brain Angular Gyrus	brain
23	chr11:120261200-120263600	Enhancers	Colon Smooth Muscle	Colon
24	chr11:120261200-120263800	Enhancers	Brain Substantia Nigra	brain
25	chr11:120261200-120263800	Enhancers	NHEK	skin
26	chr11:120261200-120264000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:120261200-120271400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr11:120261400-120263200	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr11:120261600-120263400	Enhancers	Fetal Heart	heart
30	chr11:120261600-120263800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr11:120261800-120263000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:120261800-120263200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr11:120262000-120263000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:120262000-120263000	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr11:120262000-120263000	Enhancers	Fetal Kidney	kidney
36	chr11:120262000-120263400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr11:120262000-120263400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:120262000-120263600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:120262000-120263800	Enhancers	NH-A	brain
40	chr11:120262200-120263000	Enhancers	Duodenum Mucosa	Duodenum
41	chr11:120262200-120263000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr11:120262200-120263000	Enhancers	Fetal Lung	lung
43	chr11:120262200-120263000	Enhancers	Fetal Muscle Leg	muscle
44	chr11:120262200-120263600	Enhancers	HSMMtube	muscle
45	chr11:120262200-120263800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:120262200-120263800	Enhancers	NHDF-Ad	bronchial
47	chr11:120262400-120263200	Weak transcription	Right Ventricle	heart
48	chr11:120262400-120263200	Flanking Active TSS	HepG2	liver
49	chr11:120262400-120263400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:120262400-120265000	Weak transcription	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links