Variant report

Variant	rs7115714
Chromosome Location	chr11:120294861-120294862
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	chr11:120279981..120282622-chr11:120292960..120295557,2	K562	blood:
2	chr11:120294351..120296424-chr11:120305682..120307197,2	K562	blood:

Extended variants
information (count: 108 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10502235	0.91[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs10750172	0.94[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs10750173	0.96[CEU][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs10750174	0.85[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs10790378	0.86[EUR][1000 genomes]
rs10790380	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs10790381	0.96[ASN][1000 genomes]
rs10790382	0.98[EUR][1000 genomes]
rs10790383	0.96[CEU][hapmap];0.90[JPT][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs10892562	0.86[EUR][1000 genomes]
rs10892563	0.88[CEU][hapmap];0.82[CHB][hapmap];0.83[CHD][hapmap];0.94[JPT][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes]
rs10892564	0.88[EUR][1000 genomes]
rs10892565	0.93[ASN][1000 genomes]
rs10892566	0.96[CEU][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap];0.88[EUR][1000 genomes]
rs10892567	0.93[EUR][1000 genomes]
rs10892569	0.96[ASN][1000 genomes]
rs10892570	0.95[EUR][1000 genomes]
rs10892574	0.88[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs10892575	0.98[ASN][1000 genomes]
rs10892576	0.85[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs10892578	0.92[EUR][1000 genomes]
rs10892582	0.91[EUR][1000 genomes]
rs11217821	0.84[CEU][hapmap];0.90[JPT][hapmap];0.82[LWK][hapmap];0.83[TSI][hapmap]
rs11217840	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11217841	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11217843	0.96[ASN][1000 genomes]
rs11217852	0.95[EUR][1000 genomes]
rs11217857	0.96[ASN][1000 genomes]
rs11217866	0.96[ASN][1000 genomes]
rs11217874	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs11217875	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11217878	0.91[ASN][1000 genomes]
rs11217887	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11600703	0.92[EUR][1000 genomes]
rs11601535	0.87[CEU][hapmap];0.88[JPT][hapmap];0.92[EUR][1000 genomes]
rs11823264	0.98[ASN][1000 genomes]
rs11824032	0.83[ASN][1000 genomes]
rs11827818	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs12270397	0.96[ASN][1000 genomes]
rs12361632	0.82[EUR][1000 genomes]
rs12417256	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12417581	0.82[EUR][1000 genomes]
rs12420378	0.92[EUR][1000 genomes]
rs12785387	0.81[ASN][1000 genomes]
rs12787285	0.88[EUR][1000 genomes]
rs12794618	0.98[ASN][1000 genomes]
rs12794946	0.88[EUR][1000 genomes]
rs12806740	0.84[CEU][hapmap];0.90[JPT][hapmap];0.81[TSI][hapmap]
rs12807097	0.94[ASN][1000 genomes]
rs1373270	0.91[EUR][1000 genomes]
rs17123861	0.96[ASN][1000 genomes]
rs1812974	0.81[ASN][1000 genomes]
rs1892894	0.96[CEU][hapmap];0.90[JPT][hapmap];0.91[LWK][hapmap];0.98[TSI][hapmap];0.83[YRI][hapmap];0.94[EUR][1000 genomes]
rs1893261	0.84[CEU][hapmap];0.90[JPT][hapmap];0.83[TSI][hapmap]
rs2276035	0.92[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs2305008	0.96[CEU][hapmap];0.90[JPT][hapmap];0.88[LWK][hapmap];0.98[TSI][hapmap];0.83[YRI][hapmap];0.93[EUR][1000 genomes]
rs2305010	0.96[CEU][hapmap];0.90[JPT][hapmap];0.83[LWK][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs4381380	1.00[ASW][hapmap];0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.90[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4539328	0.82[EUR][1000 genomes]
rs4936517	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4936518	0.95[ASN][1000 genomes]
rs4938799	0.88[CEU][hapmap];0.90[JPT][hapmap];0.82[LWK][hapmap];0.88[TSI][hapmap]
rs4938801	0.88[EUR][1000 genomes]
rs4938802	0.83[ASN][1000 genomes]
rs4938803	0.96[ASN][1000 genomes]
rs4938804	0.96[CEU][hapmap];0.89[JPT][hapmap];0.80[LWK][hapmap];0.98[TSI][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4938805	0.92[CEU][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap];0.88[TSI][hapmap];0.95[EUR][1000 genomes]
rs4938806	0.97[AFR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4938807	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4938808	0.83[ASW][hapmap];0.96[CEU][hapmap];0.90[JPT][hapmap];0.92[LWK][hapmap];0.98[TSI][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs56693116	0.88[ASN][1000 genomes]
rs6589810	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6589811	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6589812	0.96[CEU][hapmap];0.81[CHD][hapmap];0.90[JPT][hapmap];0.85[LWK][hapmap];0.98[TSI][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs6589813	0.86[AFR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7101415	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7104639	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7107211	0.94[AFR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7117063	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7117321	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7118391	0.90[TSI][hapmap];0.83[YRI][hapmap];0.94[EUR][1000 genomes]
rs7121779	0.88[CEU][hapmap];0.90[JPT][hapmap];0.80[EUR][1000 genomes]
rs7126328	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7129944	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7131046	0.89[EUR][1000 genomes]
rs7131597	0.96[CEU][hapmap];0.90[JPT][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs723937	0.96[CEU][hapmap];0.89[JPT][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs7478880	0.93[EUR][1000 genomes]
rs7924772	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7924963	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7924975	0.90[EUR][1000 genomes]
rs7932037	0.92[EUR][1000 genomes]
rs7932658	0.81[EUR][1000 genomes]
rs7933086	0.96[CEU][hapmap];0.90[JPT][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes]
rs7937612	0.85[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs7939137	0.96[CEU][hapmap];0.90[JPT][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs7948928	0.96[CEU][hapmap];0.90[JPT][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes]
rs7951250	0.86[EUR][1000 genomes]
rs7952529	0.82[EUR][1000 genomes]
rs894839	0.96[CEU][hapmap];0.90[JPT][hapmap];0.90[LWK][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs9633919	0.92[EUR][1000 genomes]
rs9633950	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
5	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
6	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
rs7115714	TMEM136	cis	parietal	SCAN
rs7115714	ARHGEF12	cis	cerebellum	SCAN

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120265800-120295600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:120269200-120295200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:120271600-120300200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:120272000-120302400	Weak transcription	Brain Anterior Caudate	brain
5	chr11:120272200-120295200	Weak transcription	Brain Angular Gyrus	brain
6	chr11:120272200-120295200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr11:120272200-120299000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr11:120272200-120315600	Weak transcription	Brain Germinal Matrix	brain
9	chr11:120272200-120315800	Weak transcription	Brain Hippocampus Middle	brain
10	chr11:120272400-120320600	Weak transcription	Psoas Muscle	Psoas
11	chr11:120274200-120295600	Weak transcription	Pancreas	Pancrea
12	chr11:120274800-120295200	Weak transcription	Small Intestine	intestine
13	chr11:120275400-120295200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr11:120275600-120295200	Weak transcription	Ovary	ovary
15	chr11:120275600-120295400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:120275600-120302400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr11:120275600-120302600	Weak transcription	K562	blood
18	chr11:120275600-120322200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:120275800-120300200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:120275800-120314000	Weak transcription	Right Ventricle	heart
21	chr11:120276000-120295200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr11:120276400-120295400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr11:120276600-120302200	Weak transcription	Fetal Heart	heart
24	chr11:120276800-120295400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr11:120277600-120319800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:120278200-120295600	Weak transcription	Primary B cells from peripheral blood	blood
27	chr11:120278600-120295200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr11:120278800-120295600	Weak transcription	Fetal Brain Female	brain
29	chr11:120279400-120295000	Weak transcription	Fetal Brain Male	brain
30	chr11:120280400-120299600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr11:120283200-120295000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:120284800-120295000	Weak transcription	Colon Smooth Muscle	Colon
33	chr11:120284800-120295000	Weak transcription	Fetal Lung	lung
34	chr11:120284800-120295000	Weak transcription	HMEC	breast
35	chr11:120284800-120298800	Weak transcription	NH-A	brain
36	chr11:120285000-120302000	Weak transcription	HSMMtube	muscle
37	chr11:120285000-120302200	Weak transcription	Hela-S3	cervix
38	chr11:120285600-120319800	Weak transcription	Gastric	stomach
39	chr11:120286200-120295600	Weak transcription	Esophagus	oesophagus
40	chr11:120286800-120295200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr11:120287400-120295000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:120287800-120295200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr11:120288000-120295200	Weak transcription	Fetal Muscle Leg	muscle
44	chr11:120288400-120305800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:120288600-120309600	Weak transcription	Aorta	Aorta
46	chr11:120289200-120302400	Weak transcription	Brain Substantia Nigra	brain
47	chr11:120289600-120295000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr11:120290000-120308200	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr11:120290400-120296200	Strong transcription	HSMM	muscle
50	chr11:120290400-120313400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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