Variant report

Variant	rs11186856
Chromosome Location	chr10:93964017-93964018
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1057848	0.89[CHD][hapmap]
rs1059515	0.81[MKK][hapmap]
rs10786028	0.82[CEU][hapmap];0.86[MKK][hapmap];0.85[TSI][hapmap]
rs10882023	0.81[CEU][hapmap]
rs10882025	0.82[CEU][hapmap];0.85[TSI][hapmap]
rs10882030	0.96[EUR][1000 genomes]
rs10882031	1.00[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.84[MKK][hapmap];0.98[TSI][hapmap];0.96[EUR][1000 genomes]
rs10882037	0.90[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.98[TSI][hapmap];0.96[EUR][1000 genomes]
rs10882038	0.92[EUR][1000 genomes]
rs10882044	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11186817	0.82[CEU][hapmap]
rs11186829	0.82[CEU][hapmap];0.85[TSI][hapmap]
rs11186838	0.82[CEU][hapmap]
rs11186839	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11186841	1.00[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.98[TSI][hapmap];0.93[EUR][1000 genomes]
rs11186843	0.93[EUR][1000 genomes]
rs11186852	0.85[CEU][hapmap];0.89[CHD][hapmap];0.83[GIH][hapmap];0.84[EUR][1000 genomes]
rs11186859	0.90[CEU][hapmap];0.96[EUR][1000 genomes]
rs11186860	0.86[CEU][hapmap];0.96[EUR][1000 genomes]
rs11186866	0.90[CEU][hapmap];0.95[EUR][1000 genomes]
rs11186867	0.88[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs11186868	0.90[CEU][hapmap];0.90[GIH][hapmap];0.86[MKK][hapmap];0.95[EUR][1000 genomes]
rs11186870	0.90[CEU][hapmap];0.95[EUR][1000 genomes]
rs11186875	0.90[CEU][hapmap];0.95[EUR][1000 genomes]
rs11186876	0.95[EUR][1000 genomes]
rs11186878	0.95[EUR][1000 genomes]
rs11186879	1.00[ASW][hapmap];0.90[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.90[MKK][hapmap];0.98[TSI][hapmap];0.95[EUR][1000 genomes]
rs11186880	0.95[EUR][1000 genomes]
rs11186881	0.95[EUR][1000 genomes]
rs11186884	0.90[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.86[MKK][hapmap];0.98[TSI][hapmap];0.93[EUR][1000 genomes]
rs11186888	0.90[CEU][hapmap];0.93[EUR][1000 genomes]
rs11186892	0.92[EUR][1000 genomes]
rs11186894	0.90[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.86[MKK][hapmap];0.98[TSI][hapmap];0.92[EUR][1000 genomes]
rs11186895	0.81[CEU][hapmap];0.91[EUR][1000 genomes]
rs11186896	0.93[EUR][1000 genomes]
rs11186897	0.93[EUR][1000 genomes]
rs11186898	0.90[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.86[MKK][hapmap];0.98[TSI][hapmap];0.93[EUR][1000 genomes]
rs11186923	0.88[CHD][hapmap]
rs12355759	0.92[EUR][1000 genomes]
rs12358721	0.95[EUR][1000 genomes]
rs12358765	0.92[EUR][1000 genomes]
rs12359038	0.95[EUR][1000 genomes]
rs12571139	0.82[CEU][hapmap];0.85[TSI][hapmap]
rs1539468	0.82[CEU][hapmap];0.85[TSI][hapmap]
rs1557178	0.82[CEU][hapmap];0.85[TSI][hapmap]
rs1571176	0.82[CEU][hapmap];0.86[MKK][hapmap];0.85[TSI][hapmap]
rs17107517	0.90[CEU][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.98[TSI][hapmap];0.93[EUR][1000 genomes]
rs1878424	0.82[CEU][hapmap];0.86[MKK][hapmap];0.85[TSI][hapmap]
rs1935865	0.82[CEU][hapmap]
rs2096227	0.82[CEU][hapmap];0.84[TSI][hapmap]
rs2185834	0.82[CEU][hapmap];0.86[MKK][hapmap];0.85[TSI][hapmap]
rs2421831	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs28661623	0.93[EUR][1000 genomes]
rs3781230	1.00[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.98[TSI][hapmap];0.93[EUR][1000 genomes]
rs3781231	0.93[EUR][1000 genomes]
rs4933717	0.82[CEU][hapmap];0.90[MKK][hapmap];0.85[TSI][hapmap]
rs56239008	0.92[EUR][1000 genomes]
rs61875208	0.91[EUR][1000 genomes]
rs61875210	0.83[EUR][1000 genomes]
rs61875221	0.99[EUR][1000 genomes]
rs6583802	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs6583805	0.94[EUR][1000 genomes]
rs7067935	1.00[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.98[TSI][hapmap];0.93[EUR][1000 genomes]
rs7071524	0.93[EUR][1000 genomes]
rs7073862	0.87[EUR][1000 genomes]
rs7074059	0.95[EUR][1000 genomes]
rs7084059	0.82[CEU][hapmap];0.85[TSI][hapmap]
rs7085684	0.82[CEU][hapmap];0.85[TSI][hapmap]
rs7086446	0.82[CEU][hapmap]
rs7088903	1.00[ASW][hapmap];0.90[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.90[MKK][hapmap];0.98[TSI][hapmap];0.95[EUR][1000 genomes]
rs72807264	0.81[EUR][1000 genomes]
rs746842	0.90[CEU][hapmap];0.93[EUR][1000 genomes]
rs766398	0.82[CEU][hapmap];0.85[TSI][hapmap]
rs7905301	0.91[EUR][1000 genomes]
rs9787608	0.90[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.98[TSI][hapmap];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv3382692	chr10:93962422-93964270	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11186856	BLNK	cis	parietal	SCAN
rs11186856	BTAF1	cis	cerebellum	SCAN
rs11186856	MARCH5	cis	cerebellum	SCAN
rs11186856	CPEB3	cis	parietal	SCAN

Chromatin state (count:50 , 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	chr10:93927000-93966200	Weak transcription	Ovary	ovary
5	chr10:93927000-93970800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr10:93927200-93967600	Weak transcription	Adipose Nuclei	Adipose
7	chr10:93927200-93980400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr10:93927400-93966600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr10:93927400-93970800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr10:93927400-93997800	Weak transcription	Fetal Intestine Large	intestine
11	chr10:93929200-93984800	Weak transcription	Fetal Intestine Small	intestine
12	chr10:93929400-93967800	Weak transcription	Colon Smooth Muscle	Colon
13	chr10:93934200-93976200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr10:93940200-93971200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr10:93940600-93970800	Weak transcription	Fetal Stomach	stomach
16	chr10:93941800-93968000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr10:93941800-93971200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr10:93947800-93967800	Weak transcription	GM12878-XiMat	blood
19	chr10:93952600-93966200	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr10:93956200-93967000	Weak transcription	Fetal Heart	heart
21	chr10:93958200-93968400	Weak transcription	Right Atrium	heart
22	chr10:93958400-93967600	Weak transcription	Brain Anterior Caudate	brain
23	chr10:93958400-93981000	Weak transcription	Psoas Muscle	Psoas
24	chr10:93958800-93967000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr10:93958800-93967000	Weak transcription	Brain Hippocampus Middle	brain
26	chr10:93959000-93969800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr10:93959000-93985800	Weak transcription	Brain Substantia Nigra	brain
28	chr10:93960800-93967000	Weak transcription	K562	blood
29	chr10:93960800-93970000	Weak transcription	Hela-S3	cervix
30	chr10:93960800-93970800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr10:93960800-93976000	Weak transcription	Gastric	stomach
32	chr10:93961000-93990800	Weak transcription	Spleen	Spleen
33	chr10:93961600-93972200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr10:93962000-93967000	Weak transcription	Stomach Mucosa	stomach
35	chr10:93962000-93976400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr10:93963000-93976400	Weak transcription	Aorta	Aorta
37	chr10:93963400-93964200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr10:93963400-93965000	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr10:93963600-93964200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr10:93963600-93964200	Enhancers	Brain Germinal Matrix	brain
41	chr10:93963800-93964200	Enhancers	Fetal Brain Female	brain
42	chr10:93963800-93964200	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr10:93963800-93964200	Enhancers	Right Ventricle	heart
44	chr10:93963800-93964400	Enhancers	Brain Angular Gyrus	brain
45	chr10:93963800-93964400	Enhancers	Fetal Brain Male	brain
46	chr10:93963800-93964600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr10:93964000-93964200	Enhancers	Pancreas	Pancrea
48	chr10:93964000-93964400	Enhancers	HSMM	muscle
49	chr10:93964000-93964800	Enhancers	Left Ventricle	heart
50	chr10:93964000-93967400	Weak transcription	Brain Inferior Temporal Lobe	brain

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