Variant report

Variant	rs7932658
Chromosome Location	chr11:120211212-120211213
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	chr11:120208182..120211778-chr11:120301083..120304985,6	K562	blood:
2	chr11:120210465..120212545-chr11:120324411..120326900,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10502235	0.90[JPT][hapmap]
rs10750172	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10750173	0.92[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10750174	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10790378	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10790380	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10790382	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10790383	0.92[CEU][hapmap];0.92[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap]
rs10892562	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10892563	1.00[CEU][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10892564	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10892566	0.92[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10892567	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10892570	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10892574	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10892576	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11217821	0.89[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11217840	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11217841	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11217852	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11217874	0.84[JPT][hapmap]
rs11217875	0.89[JPT][hapmap]
rs11600703	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11601535	0.83[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11823300	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11827818	0.84[JPT][hapmap]
rs12361632	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12417581	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12420378	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12787285	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12806740	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1892894	0.92[CEU][hapmap];0.85[CHB][hapmap];0.89[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1893261	0.96[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2276035	0.84[JPT][hapmap]
rs2305008	0.92[CEU][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap]
rs2305010	0.92[CEU][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap]
rs34298380	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36011588	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3809059	0.81[JPT][hapmap]
rs4381380	0.92[CEU][hapmap];0.90[JPT][hapmap];0.81[LWK][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4539328	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4936517	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4938799	0.82[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];0.95[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4938801	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4938804	0.92[CEU][hapmap];0.85[CHB][hapmap];0.89[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4938805	0.88[CEU][hapmap];0.85[CHB][hapmap];0.84[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4938806	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4938807	0.90[JPT][hapmap]
rs4938808	0.82[ASW][hapmap];0.92[CEU][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap]
rs496248	0.81[JPT][hapmap]
rs61898351	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs632137	0.81[JPT][hapmap]
rs6589810	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6589811	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6589812	0.92[CEU][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6589813	0.82[EUR][1000 genomes]
rs7101415	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7104639	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7107211	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7115714	0.81[EUR][1000 genomes]
rs7117063	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7117321	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7118391	0.98[GIH][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7121779	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7126328	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7126413	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7129944	0.90[JPT][hapmap]
rs7131046	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7131597	0.92[CEU][hapmap];0.85[CHB][hapmap];0.89[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap]
rs723937	0.92[CEU][hapmap];0.92[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap]
rs7478880	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7924772	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7924963	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7924975	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7932037	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7933086	0.92[CEU][hapmap];0.85[CHB][hapmap];0.89[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7937612	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7939137	0.92[CEU][hapmap];0.85[CHB][hapmap];0.89[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap]
rs7948928	0.92[CEU][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7952529	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs894839	0.92[CEU][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap]
rs9633919	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9633950	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7932658	ARHGEF12	cis	cerebellum	SCAN
rs7932658	TMEM136	cis	parietal	SCAN

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120205600-120211600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:120205800-120211600	Active TSS	Right Ventricle	heart
3	chr11:120206200-120211400	Active TSS	NHLF	lung
4	chr11:120208200-120211600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:120208400-120211400	Active TSS	K562	blood
6	chr11:120208800-120214200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:120208800-120216200	Weak transcription	Esophagus	oesophagus
8	chr11:120208800-120223400	Weak transcription	Gastric	stomach
9	chr11:120209000-120212400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:120209000-120217000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:120209400-120211800	Flanking Active TSS	NHEK	skin
12	chr11:120209600-120212400	Enhancers	Fetal Intestine Small	intestine
13	chr11:120209600-120214600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr11:120209600-120215200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr11:120209600-120216200	Weak transcription	Lung	lung
16	chr11:120209600-120224600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:120210000-120211600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr11:120210000-120211600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr11:120210000-120211800	Enhancers	Stomach Mucosa	stomach
20	chr11:120210000-120211800	Flanking Active TSS	HUVEC	blood vessel
21	chr11:120210200-120211400	Flanking Active TSS	A549	lung
22	chr11:120210200-120211400	Flanking Active TSS	HepG2	liver
23	chr11:120210400-120214600	Weak transcription	Placenta	Placenta
24	chr11:120210600-120211400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:120210600-120211600	Enhancers	Brain Cingulate Gyrus	brain
26	chr11:120210600-120211600	Active TSS	Psoas Muscle	Psoas
27	chr11:120210600-120211800	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr11:120210600-120212000	Enhancers	HMEC	breast
29	chr11:120210600-120212400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr11:120210600-120214200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr11:120210600-120214200	Weak transcription	Spleen	Spleen
32	chr11:120210600-120214600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:120210600-120214800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr11:120210600-120217000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:120210600-120217000	Weak transcription	Pancreas	Pancrea
36	chr11:120210600-120218200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr11:120210800-120211600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:120210800-120211600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr11:120210800-120212200	Active TSS	GM12878-XiMat	blood
40	chr11:120210800-120213000	Enhancers	Fetal Intestine Large	intestine
41	chr11:120210800-120215000	Weak transcription	Brain Substantia Nigra	brain
42	chr11:120211000-120211400	Enhancers	Brain Germinal Matrix	brain
43	chr11:120211000-120211400	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr11:120211000-120211400	Enhancers	Osteobl	bone
45	chr11:120211000-120211600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:120211000-120211600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:120211000-120211600	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr11:120211000-120211600	Enhancers	NH-A	brain
49	chr11:120211000-120212000	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr11:120211000-120212000	Enhancers	Rectal Smooth Muscle	rectum

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