Variant report

Variant	rs2281791
Chromosome Location	chr10:96294851-96294852
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:96290006..96295152-chr10:96302633..96306565,5	K562	blood:

Variant related genes	Relation type
ENSG00000119969	Chromatin interaction

Extended variants
information (count: 120 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10786168	0.89[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10786169	1.00[CEU][hapmap];0.83[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10786170	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10882454	0.84[EUR][1000 genomes]
rs10882460	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.98[TSI][hapmap];0.86[YRI][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10882463	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10882469	0.92[EUR][1000 genomes]
rs10882470	0.91[MEX][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs10882471	0.93[EUR][1000 genomes]
rs10882473	0.93[EUR][1000 genomes]
rs10882474	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10882477	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10882486	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11187937	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11187939	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11187940	0.92[JPT][hapmap]
rs11187944	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11187948	0.91[MEX][hapmap];0.84[TSI][hapmap]
rs11187952	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11187960	1.00[JPT][hapmap]
rs11187972	0.95[CEU][hapmap];0.86[CHB][hapmap];0.88[EUR][1000 genomes]
rs11187973	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11187980	1.00[CEU][hapmap];0.95[GIH][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.90[EUR][1000 genomes]
rs11187996	0.91[EUR][1000 genomes]
rs11188009	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188012	0.83[JPT][hapmap];0.82[EUR][1000 genomes]
rs11188016	0.81[EUR][1000 genomes]
rs11188017	0.83[EUR][1000 genomes]
rs11188019	1.00[CEU][hapmap];0.81[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11188020	1.00[JPT][hapmap]
rs11188026	0.83[EUR][1000 genomes]
rs11188030	0.82[EUR][1000 genomes]
rs11188040	0.87[MEX][hapmap]
rs11527881	0.89[EUR][1000 genomes]
rs11592354	0.92[EUR][1000 genomes]
rs11638	1.00[CEU][hapmap];0.91[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12218213	0.87[MEX][hapmap];0.84[TSI][hapmap]
rs12218216	0.87[MEX][hapmap];0.84[TSI][hapmap]
rs12219906	0.87[MEX][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs12220588	0.87[MEX][hapmap];0.81[TSI][hapmap]
rs12221475	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12572040	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12573638	0.80[EUR][1000 genomes]
rs12762574	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1326839	0.84[ASW][hapmap];0.92[CEU][hapmap];0.88[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.85[LWK][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1334595	1.00[JPT][hapmap]
rs1359262	0.83[EUR][1000 genomes]
rs1359263	0.87[MEX][hapmap];0.81[TSI][hapmap]
rs1409655	1.00[JPT][hapmap]
rs1749352	0.86[EUR][1000 genomes]
rs1854035	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1886272	0.85[EUR][1000 genomes]
rs1889485	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1889486	0.91[MEX][hapmap];0.86[TSI][hapmap]
rs1931757	0.83[JPT][hapmap]
rs1969815	0.85[CEU][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs1977288	1.00[JPT][hapmap]
rs1977289	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1977290	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1977291	0.83[JPT][hapmap]
rs1980741	1.00[CEU][hapmap];0.84[CHB][hapmap];0.83[JPT][hapmap];0.88[EUR][1000 genomes]
rs2012670	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2095380	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2265364	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2274096	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2274417	0.87[MEX][hapmap];0.81[TSI][hapmap]
rs2860821	0.87[MEX][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs2901765	0.86[EUR][1000 genomes]
rs34814196	0.82[EUR][1000 genomes]
rs3740358	0.84[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3758522	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3758523	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3781262	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4316436	0.83[EUR][1000 genomes]
rs4351744	0.94[ASW][hapmap];1.00[CEU][hapmap];0.84[CHB][hapmap];0.98[GIH][hapmap];0.83[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.80[YRI][hapmap];0.89[EUR][1000 genomes]
rs4421688	0.82[EUR][1000 genomes]
rs480032	1.00[JPT][hapmap]
rs4917505	0.83[EUR][1000 genomes]
rs4918333	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4918401	0.82[EUR][1000 genomes]
rs4918402	0.84[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4918403	0.84[EUR][1000 genomes]
rs4918404	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4918409	0.85[CEU][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap];0.80[EUR][1000 genomes]
rs4918412	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4918419	0.85[CEU][hapmap]
rs517784	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs556055	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs6583942	1.00[JPT][hapmap]
rs6583943	0.89[EUR][1000 genomes]
rs6583944	0.85[CEU][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs6583945	0.83[EUR][1000 genomes]
rs6583946	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs692872	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs701885	0.84[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7068337	0.80[EUR][1000 genomes]
rs7073639	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7075182	0.88[JPT][hapmap]
rs7078236	0.90[EUR][1000 genomes]
rs7078478	0.83[JPT][hapmap]
rs7078811	1.00[CEU][hapmap];0.91[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7079934	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7083898	1.00[CEU][hapmap];0.83[JPT][hapmap];0.90[EUR][1000 genomes]
rs7086462	0.81[EUR][1000 genomes]
rs7087472	0.81[EUR][1000 genomes]
rs7087798	0.83[JPT][hapmap]
rs7089094	0.83[EUR][1000 genomes]
rs7092129	1.00[JPT][hapmap]
rs7100415	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7898330	0.85[EUR][1000 genomes]
rs7906843	0.96[CEU][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7913343	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7921721	1.00[CEU][hapmap];0.84[CHB][hapmap];0.98[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.89[EUR][1000 genomes]
rs912466	0.91[MEX][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs9420641	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9633699	0.88[EUR][1000 genomes];0.85[ASN][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	esv2761616	chr10:95966768-96303701	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv497859	chr10:96058024-97027747	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv1819509	chr10:96064300-96361776	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1053747	chr10:96211618-96366396	Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2281791	KIF11	cis	cerebellum	SCAN
rs2281791	C19orf22	trans	cerebellum	SCAN
rs2281791	FGFBP3	cis	cerebellum	SCAN
rs2281791	HELLS	cis	cerebellum	SCAN

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96244400-96304600	Weak transcription	Aorta	Aorta
2	chr10:96250800-96297400	Weak transcription	Small Intestine	intestine
3	chr10:96261000-96304400	Weak transcription	NH-A	brain
4	chr10:96264200-96296800	Weak transcription	Brain Germinal Matrix	brain
5	chr10:96266000-96304600	Weak transcription	Fetal Kidney	kidney
6	chr10:96267400-96303800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr10:96268400-96304400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr10:96268800-96297200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr10:96268800-96304400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr10:96270200-96304200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr10:96271800-96304000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr10:96272000-96304600	Weak transcription	HSMMtube	muscle
13	chr10:96272200-96295800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr10:96274400-96304000	Weak transcription	Stomach Mucosa	stomach
15	chr10:96274400-96304400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr10:96274600-96304000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr10:96279600-96297200	Weak transcription	Spleen	Spleen
18	chr10:96280400-96304800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr10:96281800-96296800	Weak transcription	Fetal Brain Female	brain
20	chr10:96282200-96304200	Weak transcription	Colonic Mucosa	Colon
21	chr10:96284000-96304200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr10:96284000-96304400	Weak transcription	Osteobl	bone
23	chr10:96284200-96297200	Weak transcription	Pancreas	Pancrea
24	chr10:96284200-96299200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr10:96284200-96304400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr10:96284200-96304400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr10:96286200-96303800	Weak transcription	Lung	lung
28	chr10:96286200-96304800	Weak transcription	Esophagus	oesophagus
29	chr10:96288600-96304400	Weak transcription	NHLF	lung
30	chr10:96289000-96297600	Weak transcription	Fetal Stomach	stomach
31	chr10:96289400-96304400	Weak transcription	HUVEC	blood vessel
32	chr10:96289400-96304600	Weak transcription	Fetal Intestine Small	intestine
33	chr10:96290000-96303600	Weak transcription	HMEC	breast
34	chr10:96291200-96303200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr10:96291200-96303800	Weak transcription	Hela-S3	cervix
36	chr10:96292000-96295000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr10:96292000-96295000	Strong transcription	Liver	Liver
38	chr10:96292000-96295200	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr10:96292000-96304800	Weak transcription	Fetal Brain Male	brain
40	chr10:96292200-96295400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr10:96292200-96295600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr10:96292200-96297400	Strong transcription	HSMM	muscle
43	chr10:96292400-96295000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr10:96292400-96295000	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr10:96292600-96295600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr10:96292800-96295000	Strong transcription	Duodenum Mucosa	Duodenum
47	chr10:96293000-96295200	Strong transcription	Adipose Nuclei	Adipose
48	chr10:96293400-96295000	Strong transcription	Fetal Lung	lung
49	chr10:96293400-96295400	Strong transcription	Placenta	Placenta
50	chr10:96293400-96304400	Weak transcription	Primary B cells from peripheral blood	blood

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