Variant report

Variant	rs9787608
Chromosome Location	chr10:93980763-93980764
allele	C/T
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:76)

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]
rs10786028	0.87[TSI][hapmap]
rs10882025	0.82[ASW][hapmap];0.87[TSI][hapmap]
rs10882030	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10882031	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882037	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10882038	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10882044	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11186829	0.84[MKK][hapmap];0.87[TSI][hapmap]
rs11186838	0.82[CEU][hapmap]
rs11186839	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11186841	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11186842	0.90[ASN][1000 genomes]
rs11186843	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11186852	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]
rs11186856	0.90[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.98[TSI][hapmap]
rs11186859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11186860	0.95[CEU][hapmap];0.94[CHB][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11186866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11186867	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11186868	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[GIH][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11186870	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11186875	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11186876	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11186878	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11186879	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11186880	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11186881	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11186884	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11186888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11186892	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11186894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11186895	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11186896	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11186897	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11186898	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][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	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12358721	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12358765	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12359038	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12571139	0.85[LWK][hapmap];0.88[MKK][hapmap];0.87[TSI][hapmap]
rs1539468	0.81[ASW][hapmap];0.85[LWK][hapmap];0.88[MKK][hapmap];0.87[TSI][hapmap]
rs1557178	0.85[MKK][hapmap];0.87[TSI][hapmap]
rs1571176	0.87[TSI][hapmap]
rs17107517	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1878424	0.87[TSI][hapmap]
rs2096227	0.87[TSI][hapmap]
rs2185834	0.87[TSI][hapmap]
rs2421831	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28661623	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3781230	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3781231	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4933717	0.87[TSI][hapmap]
rs56239008	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61875203	0.86[ASN][1000 genomes]
rs61875208	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61875210	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61875221	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6583802	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6583805	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7067935	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7071524	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7073862	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7074059	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7084059	0.87[TSI][hapmap]
rs7085684	0.84[MKK][hapmap];0.87[TSI][hapmap]
rs7088903	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72807264	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs746842	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs766398	0.82[ASW][hapmap];0.85[LWK][hapmap];0.88[MKK][hapmap];0.87[TSI][hapmap]
rs7905301	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7917088	0.85[YRI][hapmap]
rs932820	0.85[YRI][hapmap]

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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs9787608	BLNK	cis	parietal	SCAN
rs9787608	MARCH5	cis	cerebellum	SCAN
rs9787608	CPEB3	cis	parietal	SCAN
rs9787608	BTAF1	cis	cerebellum	SCAN

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:93926800-93982400	Weak transcription	HSMMtube	muscle
2	chr10:93927400-93997800	Weak transcription	Fetal Intestine Large	intestine
3	chr10:93929200-93984800	Weak transcription	Fetal Intestine Small	intestine
4	chr10:93958400-93981000	Weak transcription	Psoas Muscle	Psoas
5	chr10:93959000-93985800	Weak transcription	Brain Substantia Nigra	brain
6	chr10:93961000-93990800	Weak transcription	Spleen	Spleen
7	chr10:93964200-93993000	Weak transcription	Fetal Brain Female	brain
8	chr10:93964200-93996000	Weak transcription	Brain Germinal Matrix	brain
9	chr10:93964200-93997600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr10:93964400-93982400	Weak transcription	HSMM	muscle
11	chr10:93966400-93986200	Weak transcription	Ovary	ovary
12	chr10:93967400-93986200	Weak transcription	Fetal Heart	heart
13	chr10:93967600-93986200	Weak transcription	Left Ventricle	heart
14	chr10:93967600-93990800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr10:93968400-93997000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr10:93968600-93989200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr10:93969200-93982400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr10:93969200-93997800	Weak transcription	Pancreas	Pancrea
19	chr10:93969200-93998600	Weak transcription	Lung	lung
20	chr10:93969600-93997800	Weak transcription	Esophagus	oesophagus
21	chr10:93971000-93990800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr10:93971200-93982600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr10:93971200-93984200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr10:93971200-93990400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr10:93971400-93982400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr10:93971400-93982600	Weak transcription	Osteobl	bone
27	chr10:93971400-93993200	Weak transcription	Fetal Muscle Leg	muscle
28	chr10:93971400-93997800	Weak transcription	Stomach Mucosa	stomach
29	chr10:93971600-93982000	Weak transcription	HMEC	breast
30	chr10:93971600-93982400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr10:93971600-93988000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr10:93971600-93989000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr10:93971600-93997000	Weak transcription	Adipose Nuclei	Adipose
34	chr10:93973000-93982200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr10:93973000-93997000	Weak transcription	Liver	Liver
36	chr10:93974800-93991600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr10:93975400-93998000	Weak transcription	Colonic Mucosa	Colon
38	chr10:93975600-93997000	Weak transcription	HepG2	liver
39	chr10:93976600-93999000	Weak transcription	Aorta	Aorta
40	chr10:93976800-93984000	Weak transcription	Brain Anterior Caudate	brain
41	chr10:93976800-93989000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr10:93976800-93989400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr10:93976800-93990600	Weak transcription	Right Ventricle	heart
44	chr10:93976800-93997200	Weak transcription	Stomach Smooth Muscle	stomach
45	chr10:93976800-93998800	Weak transcription	Gastric	stomach
46	chr10:93977000-93998400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr10:93977600-93998000	Weak transcription	Primary B cells from cord blood	blood
48	chr10:93978200-93990600	Weak transcription	Fetal Stomach	stomach
49	chr10:93978600-93985800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr10:93979000-93991000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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