Variant report

Variant	rs11186852
Chromosome Location	chr10:93962124-93962125
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10509644	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs1057848	0.83[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]
rs1059515	0.86[ASW][hapmap];0.80[MKK][hapmap]
rs10786028	1.00[LWK][hapmap];0.85[MKK][hapmap]
rs10882016	0.86[ASW][hapmap];0.83[LWK][hapmap];0.80[MKK][hapmap]
rs10882030	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10882031	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.94[MEX][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882037	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10882038	0.92[ASN][1000 genomes]
rs10882044	0.94[ASN][1000 genomes]
rs11186792	0.86[ASW][hapmap]
rs11186839	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11186841	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11186842	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11186843	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11186856	0.85[CEU][hapmap];0.89[CHD][hapmap];0.83[GIH][hapmap]
rs11186859	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11186860	0.94[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11186866	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11186867	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11186868	1.00[ASW][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.94[MEX][hapmap];0.85[MKK][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11186870	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11186875	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11186876	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11186878	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11186879	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11186880	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11186881	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11186884	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11186888	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11186892	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11186894	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11186895	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11186896	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11186897	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11186898	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11186923	0.83[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap]
rs11186926	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs12355759	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12358721	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12358765	0.94[ASN][1000 genomes]
rs12359038	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17107517	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.94[ASN][1000 genomes]
rs1878424	1.00[LWK][hapmap];0.85[MKK][hapmap]
rs1914345	0.86[ASW][hapmap];0.83[LWK][hapmap];0.80[MKK][hapmap]
rs2185834	1.00[LWK][hapmap];0.85[MKK][hapmap]
rs2421831	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28661623	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3781230	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3781231	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56239008	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs61875203	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61875208	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61875210	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61875221	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6583802	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6583805	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7067935	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7071524	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7073862	0.87[ASN][1000 genomes]
rs7074059	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7088903	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72807264	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs746842	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7905301	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9787608	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.83[EUR][1000 genomes];1.00[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	nsv975763	chr10:93822289-94105956	Enhancers Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1046258	chr10:93866969-94466106	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	esv2761614	chr10:93960695-93981177	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11186852	CPEB3	cis	parietal	SCAN
rs11186852	BTAF1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:93926400-93976000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr10:93926600-93976000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr10:93926800-93982400	Weak transcription	HSMMtube	muscle
4	chr10:93927000-93963800	Weak transcription	Brain Angular Gyrus	brain
5	chr10:93927000-93966200	Weak transcription	Ovary	ovary
6	chr10:93927000-93970800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr10:93927200-93967600	Weak transcription	Adipose Nuclei	Adipose
8	chr10:93927200-93980400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr10:93927400-93966600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr10:93927400-93970800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr10:93927400-93997800	Weak transcription	Fetal Intestine Large	intestine
12	chr10:93929200-93984800	Weak transcription	Fetal Intestine Small	intestine
13	chr10:93929400-93967800	Weak transcription	Colon Smooth Muscle	Colon
14	chr10:93934200-93976200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr10:93940200-93971200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr10:93940600-93970800	Weak transcription	Fetal Stomach	stomach
17	chr10:93941800-93968000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr10:93941800-93971200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr10:93945800-93963800	Weak transcription	Fetal Brain Female	brain
20	chr10:93946600-93964000	Weak transcription	Left Ventricle	heart
21	chr10:93947800-93967800	Weak transcription	GM12878-XiMat	blood
22	chr10:93952400-93963400	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr10:93952600-93966200	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr10:93956200-93967000	Weak transcription	Fetal Heart	heart
25	chr10:93958200-93968400	Weak transcription	Right Atrium	heart
26	chr10:93958400-93963800	Weak transcription	Right Ventricle	heart
27	chr10:93958400-93967600	Weak transcription	Brain Anterior Caudate	brain
28	chr10:93958400-93981000	Weak transcription	Psoas Muscle	Psoas
29	chr10:93958800-93962800	Weak transcription	Aorta	Aorta
30	chr10:93958800-93967000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr10:93958800-93967000	Weak transcription	Brain Hippocampus Middle	brain
32	chr10:93959000-93969800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr10:93959000-93985800	Weak transcription	Brain Substantia Nigra	brain
34	chr10:93960800-93967000	Weak transcription	K562	blood
35	chr10:93960800-93970000	Weak transcription	Hela-S3	cervix
36	chr10:93960800-93970800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr10:93960800-93976000	Weak transcription	Gastric	stomach
38	chr10:93961000-93990800	Weak transcription	Spleen	Spleen
39	chr10:93961600-93972200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr10:93962000-93963600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr10:93962000-93963800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr10:93962000-93967000	Weak transcription	Stomach Mucosa	stomach
43	chr10:93962000-93976400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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