Variant report

Variant	rs10767713
Chromosome Location	chr11:3950157-3950158
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1013351	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10500590	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10742200	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10767702	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10767715	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10767720	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10767721	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10767723	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs10767767	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10835311	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10835312	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10835324	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs10835331	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10835333	0.82[EUR][1000 genomes]
rs10835337	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs10835340	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10835359	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10835390	0.86[EUR][1000 genomes]
rs10835399	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10835402	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10835403	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10835406	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10835407	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10835454	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10835474	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10835508	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10835557	0.81[EUR][1000 genomes]
rs11030276	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11030404	0.86[EUR][1000 genomes]
rs11030579	0.82[EUR][1000 genomes]
rs11030599	0.86[EUR][1000 genomes]
rs11030627	0.82[EUR][1000 genomes]
rs11030631	0.84[EUR][1000 genomes]
rs11030639	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11030660	0.83[EUR][1000 genomes]
rs11493482	0.86[EUR][1000 genomes]
rs11828337	0.85[EUR][1000 genomes]
rs12223176	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12270732	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12281293	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12283447	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12286710	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12290747	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12295138	0.92[EUR][1000 genomes]
rs1349583	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1452047	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1452048	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs17081	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17279635	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1839910	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2412338	0.87[EUR][1000 genomes]
rs2898947	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4910590	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4910865	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4910866	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4910868	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4910869	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4910875	0.83[EUR][1000 genomes]
rs57799995	0.87[AFR][1000 genomes]
rs6578421	0.81[AFR][1000 genomes]
rs6578424	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs66503725	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66596383	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67300156	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7102215	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7113845	0.84[EUR][1000 genomes]
rs7128762	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs714380	0.82[EUR][1000 genomes]
rs720571	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73425498	0.86[AFR][1000 genomes]
rs73427512	0.86[AFR][1000 genomes]
rs750525	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7924984	0.87[EUR][1000 genomes]
rs7925954	0.82[EUR][1000 genomes]
rs7935824	0.84[EUR][1000 genomes]
rs7950153	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs995498	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049560	chr11:3678259-3980746	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv540907	chr11:3678259-3980746	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1052744	chr11:3739162-4017601	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1047025	chr11:3750969-4017601	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1046065	chr11:3808818-4049150	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv540909	chr11:3808818-4049150	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv869701	chr11:3879297-3973762	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	nsv1043039	chr11:3903226-3955159	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv896895	chr11:3942001-3972236	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10767713	STIM1	cis	lung	GTEx
rs10767713	RRM1	cis	Thyroid	GTEx
rs10767713	RRM1	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3924000-3950600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr11:3929400-3950600	Weak transcription	Ovary	ovary
3	chr11:3934800-3951000	Weak transcription	Gastric	stomach
4	chr11:3937800-3950600	Weak transcription	Lung	lung
5	chr11:3938400-3956400	Weak transcription	Dnd41	blood
6	chr11:3939000-3950200	Weak transcription	Left Ventricle	heart
7	chr11:3939000-3950200	Weak transcription	Pancreas	Pancrea
8	chr11:3939000-3956000	Weak transcription	Esophagus	oesophagus
9	chr11:3939600-3950200	Weak transcription	Fetal Thymus	thymus
10	chr11:3941600-3950600	Weak transcription	Stomach Mucosa	stomach
11	chr11:3941600-3951000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:3942000-3950200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr11:3942000-3950400	Weak transcription	K562	blood
14	chr11:3942000-3950800	Weak transcription	Small Intestine	intestine
15	chr11:3942200-3951000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:3943200-3950400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr11:3943400-3954800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr11:3943800-3953200	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr11:3944000-3950400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:3944000-3950800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr11:3947200-3952200	Enhancers	Liver	Liver
22	chr11:3947800-3950200	Enhancers	Primary B cells from peripheral blood	blood
23	chr11:3947800-3950800	Weak transcription	HSMM	muscle
24	chr11:3948000-3950400	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr11:3948000-3951400	Enhancers	Fetal Stomach	stomach
26	chr11:3948000-3952200	Enhancers	Fetal Muscle Leg	muscle
27	chr11:3948200-3955800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:3948200-3955800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr11:3948400-3950600	Weak transcription	Fetal Kidney	kidney
30	chr11:3948400-3951200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:3948400-3952800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr11:3948400-3960400	Weak transcription	NHEK	skin
33	chr11:3948600-3955600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr11:3948800-3950800	Weak transcription	HSMMtube	muscle
35	chr11:3948800-3951200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr11:3948800-3951400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr11:3948800-3954400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr11:3948800-3960800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:3949000-3950200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr11:3949000-3950200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr11:3949000-3950400	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr11:3949000-3950600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:3949000-3950600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr11:3949000-3950800	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr11:3949000-3950800	Weak transcription	A549	lung
46	chr11:3949000-3961400	Weak transcription	Right Atrium	heart
47	chr11:3949200-3950200	Weak transcription	Aorta	Aorta
48	chr11:3949200-3950200	Weak transcription	Psoas Muscle	Psoas
49	chr11:3949200-3950400	Weak transcription	HepG2	liver
50	chr11:3949200-3950600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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