Variant report

Variant	rs10767811
Chromosome Location	chr11:4066398-4066399
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1013351	0.83[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs10500590	0.94[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.93[JPT][hapmap];0.97[TSI][hapmap]
rs10767702	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs10767715	0.94[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap]
rs10767767	0.83[CEU][hapmap];0.94[CHB][hapmap];0.95[GIH][hapmap];0.93[JPT][hapmap];0.90[TSI][hapmap];0.82[ASN][1000 genomes]
rs10835311	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs10835331	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs10835337	0.88[TSI][hapmap]
rs10835340	0.94[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.93[JPT][hapmap];0.97[TSI][hapmap]
rs10835399	0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs10835402	0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs10835403	0.94[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.80[EUR][1000 genomes]
rs10835406	0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs10835407	0.94[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.97[TSI][hapmap];0.81[EUR][1000 genomes]
rs10835454	0.80[EUR][1000 genomes]
rs10835474	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10835508	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10835521	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10835540	0.87[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10835545	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10835554	0.87[ASN][1000 genomes]
rs10835556	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10835557	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10835561	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10835596	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10835597	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10835601	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10835604	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10835611	0.86[CHB][hapmap]
rs11030276	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs11030404	0.83[GIH][hapmap];0.88[TSI][hapmap]
rs11030579	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11030580	0.82[ASN][1000 genomes]
rs11030599	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11030627	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11030631	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11030639	0.87[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11030660	0.88[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11030781	1.00[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11030918	0.84[CHD][hapmap];0.89[GIH][hapmap]
rs11031110	0.85[CHB][hapmap]
rs11493482	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12223176	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs12281293	0.90[CHB][hapmap];0.87[JPT][hapmap]
rs12286710	0.82[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap]
rs1349583	0.94[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap]
rs1442726	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1452047	0.94[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.81[EUR][1000 genomes]
rs17081	0.94[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.81[EUR][1000 genomes]
rs17279635	0.94[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap]
rs2119987	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28419002	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2898947	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs3817657	0.81[CHB][hapmap]
rs4910590	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4910596	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4910597	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4910598	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4910866	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs4910868	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs4910869	0.94[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.82[ASN][1000 genomes]
rs4910875	0.83[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4910877	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4910880	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6578424	0.88[TSI][hapmap]
rs67065286	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7102215	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs7128762	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs7129444	0.87[GIH][hapmap]
rs7130580	0.81[CHB][hapmap]
rs714380	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs720571	0.83[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7924984	0.83[GIH][hapmap];0.88[TSI][hapmap]
rs7932702	0.81[CHB][hapmap]
rs7935824	0.83[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7950153	0.94[CHB][hapmap];0.82[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap]
rs963998	0.91[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs995498	0.94[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.93[JPT][hapmap];0.97[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv896896	chr11:4010409-4185595	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1042719	chr11:4017541-4101609	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv2758253	chr11:4055945-4510188	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	esv2759797	chr11:4055945-4510188	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv428248	chr11:4055945-4510188	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs10767811	STIM1	cis	Thyroid	GTEx
rs10767811	TRIM21	cis	cerebellum	SCAN
rs10767811	RRM1	cis	parietal	SCAN
rs10767811	RRM1	cis	cerebellum	SCAN
rs10767811	CD81	cis	parietal	SCAN
rs10767811	OR52M1	cis	cerebellum	SCAN
rs10767811	RRM1	cis	Artery Tibial	GTEx

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4047800-4077400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr11:4048000-4077600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr11:4048600-4077800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr11:4049600-4070600	Weak transcription	Thymus	Thymus
5	chr11:4050200-4070800	Weak transcription	Fetal Thymus	thymus
6	chr11:4051000-4080400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:4051200-4070200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr11:4057400-4076800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr11:4058200-4070800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr11:4058800-4070800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr11:4059200-4076800	Weak transcription	GM12878-XiMat	blood
12	chr11:4062000-4066600	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr11:4062000-4080400	Weak transcription	Spleen	Spleen
14	chr11:4062200-4068200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr11:4062200-4070000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr11:4062200-4070400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr11:4062200-4070800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:4062200-4076600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr11:4062600-4067400	Weak transcription	Primary T cells from cord blood	blood
20	chr11:4062600-4070800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr11:4062800-4076200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr11:4063000-4068800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr11:4063200-4070800	Weak transcription	Aorta	Aorta
24	chr11:4063600-4076400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:4064600-4068200	Enhancers	HepG2	liver
26	chr11:4064800-4070600	Weak transcription	Dnd41	blood
27	chr11:4065000-4066600	Enhancers	Fetal Heart	heart
28	chr11:4065000-4066800	Enhancers	Liver	Liver
29	chr11:4065000-4067800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:4065200-4066400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr11:4065200-4066600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:4065200-4066600	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr11:4065200-4066600	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr11:4065200-4066600	Enhancers	Left Ventricle	heart
35	chr11:4065200-4066600	Enhancers	Right Ventricle	heart
36	chr11:4065200-4066600	Enhancers	K562	blood
37	chr11:4065200-4066600	Enhancers	NHDF-Ad	bronchial
38	chr11:4065200-4066600	Enhancers	Osteobl	bone
39	chr11:4065200-4066800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:4065200-4066800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:4065200-4067000	Enhancers	Colon Smooth Muscle	Colon
42	chr11:4065200-4067200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:4065200-4068000	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr11:4065200-4068000	Enhancers	Brain Cingulate Gyrus	brain
45	chr11:4065200-4068200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:4065200-4068200	Enhancers	NHEK	skin
47	chr11:4065400-4066400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:4065400-4066400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr11:4065400-4066400	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr11:4065400-4066400	Enhancers	Esophagus	oesophagus

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