Variant report

Variant	rs10767702
Chromosome Location	chr11:3934132-3934133
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs1013351	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10500590	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10742200	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs10767713	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10767715	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10767720	0.81[EUR][1000 genomes]
rs10767721	0.81[EUR][1000 genomes]
rs10767723	0.81[EUR][1000 genomes]
rs10767767	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10767811	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs10835239	0.86[CEU][hapmap]
rs10835290	0.80[ASN][1000 genomes]
rs10835311	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10835312	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10835324	0.81[EUR][1000 genomes]
rs10835331	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10835333	0.81[EUR][1000 genomes]
rs10835337	0.87[EUR][1000 genomes]
rs10835340	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10835359	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10835390	0.80[CEU][hapmap];0.85[EUR][1000 genomes]
rs10835399	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10835402	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10835403	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10835406	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10835407	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10835454	0.84[EUR][1000 genomes]
rs10835474	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10835508	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs10835521	0.84[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs10835540	0.83[CEU][hapmap];0.86[CHB][hapmap]
rs10835556	0.90[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10835557	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10835561	0.87[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs10835596	0.91[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs10835597	0.81[EUR][1000 genomes]
rs10835601	0.86[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs10835604	0.86[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs11030276	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11030404	0.85[EUR][1000 genomes]
rs11030579	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11030599	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11030627	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11030631	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11030639	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs11030660	1.00[CEU][hapmap];0.92[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11030781	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs11493482	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1155146	0.80[CEU][hapmap]
rs11828337	0.83[EUR][1000 genomes]
rs12223176	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12270732	0.81[EUR][1000 genomes]
rs12281293	1.00[CHB][hapmap];0.86[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12283447	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12286710	1.00[CEU][hapmap];0.84[CHB][hapmap];0.92[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12290747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12295138	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1349583	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1442726	0.91[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs1452047	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1452048	0.86[EUR][1000 genomes]
rs17081	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17279635	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1839910	0.86[EUR][1000 genomes]
rs2412338	0.80[CEU][hapmap];0.85[EUR][1000 genomes]
rs2898947	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4910590	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4910596	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4910597	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4910598	0.81[EUR][1000 genomes]
rs4910865	0.82[EUR][1000 genomes]
rs4910866	0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4910868	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4910869	0.87[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4910875	0.96[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4910877	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs4910880	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs6578424	0.85[EUR][1000 genomes]
rs66503725	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66596383	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67065286	0.82[AMR][1000 genomes]
rs67300156	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7102215	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7113845	0.80[CEU][hapmap];0.83[EUR][1000 genomes]
rs7128762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7131437	0.80[CEU][hapmap]
rs714380	0.84[EUR][1000 genomes]
rs720571	0.96[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs750525	0.82[EUR][1000 genomes]
rs7924984	0.85[EUR][1000 genomes]
rs7925954	0.81[EUR][1000 genomes]
rs7935824	0.96[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs7950153	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs963998	0.87[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs995498	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv1051904	chr11:3903226-3939186	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv1050077	chr11:3903226-3940726	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	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
11	nsv522040	chr11:3933564-3938385	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10767702	STIM1	cis	lung	GTEx
rs10767702	RRM1	cis	Artery Tibial	GTEx
rs10767702	RRM1	cis	Thyroid	GTEx

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3916600-3943800	Weak transcription	Fetal Stomach	stomach
2	chr11:3916600-3948800	Weak transcription	Aorta	Aorta
3	chr11:3924000-3950600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr11:3924200-3934400	Weak transcription	Gastric	stomach
5	chr11:3924800-3938200	Weak transcription	Pancreas	Pancrea
6	chr11:3925800-3941000	Weak transcription	Right Ventricle	heart
7	chr11:3926600-3938400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:3926600-3941000	Weak transcription	Small Intestine	intestine
9	chr11:3926800-3937000	Weak transcription	Lung	lung
10	chr11:3927200-3936000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:3927200-3942600	Weak transcription	Spleen	Spleen
12	chr11:3927400-3941200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr11:3927600-3943600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr11:3928400-3940800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr11:3928800-3938200	Weak transcription	A549	lung
16	chr11:3929000-3938200	Weak transcription	Esophagus	oesophagus
17	chr11:3929200-3934200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:3929200-3934400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:3929200-3935400	Weak transcription	Primary B cells from cord blood	blood
20	chr11:3929200-3935600	Weak transcription	Primary B cells from peripheral blood	blood
21	chr11:3929200-3936000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:3929200-3937200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr11:3929200-3938200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr11:3929200-3940800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:3929400-3937200	Weak transcription	Dnd41	blood
26	chr11:3929400-3937400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:3929400-3938200	Weak transcription	GM12878-XiMat	blood
28	chr11:3929400-3950600	Weak transcription	Ovary	ovary
29	chr11:3930200-3938000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:3930400-3934600	Weak transcription	HepG2	liver
31	chr11:3930400-3936000	Weak transcription	HMEC	breast
32	chr11:3930400-3937000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr11:3930400-3937400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:3930600-3936000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr11:3930600-3938200	Weak transcription	Psoas Muscle	Psoas
36	chr11:3930600-3940800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr11:3931400-3941000	Weak transcription	Adipose Nuclei	Adipose
38	chr11:3931600-3942600	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr11:3932000-3934400	Enhancers	Thymus	Thymus
40	chr11:3932000-3934800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr11:3932000-3935000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr11:3932200-3942800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:3932400-3944000	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr11:3932600-3935000	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr11:3932800-3934200	Enhancers	Primary T cells from cord blood	blood
46	chr11:3932800-3941000	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr11:3933000-3935600	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr11:3933200-3934400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr11:3933200-3934600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:3933200-3934600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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