Variant report

Variant	rs73516862
Chromosome Location	chr11:68245648-68245649
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 147 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:140)

rs_ID	r²[population]
rs10047412	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10047482	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10047483	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10501398	0.89[ASN][1000 genomes]
rs10750827	0.90[ASN][1000 genomes]
rs10791981	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10791982	0.89[ASN][1000 genomes]
rs10896326	0.91[ASN][1000 genomes]
rs10896327	0.91[ASN][1000 genomes]
rs10896328	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10896329	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10896330	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10896331	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896334	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896337	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896338	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10896339	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10896340	0.90[ASN][1000 genomes]
rs10896341	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10896342	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10896343	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10896346	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10896347	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10896348	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10896350	0.86[ASN][1000 genomes]
rs10896351	0.86[ASN][1000 genomes]
rs11228240	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11228251	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11228256	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11228258	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11228262	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11228268	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11228269	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11228275	0.89[ASN][1000 genomes]
rs11228276	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11228277	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11228278	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11228279	0.90[ASN][1000 genomes]
rs11228284	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11228287	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11228288	0.88[ASN][1000 genomes]
rs11228291	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11228292	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11228293	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11822059	0.90[ASN][1000 genomes]
rs1193699	0.91[ASN][1000 genomes]
rs1201557	0.80[ASN][1000 genomes]
rs12226585	0.92[ASN][1000 genomes]
rs12271290	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12272917	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12274114	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12277225	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12281742	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12283755	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12284933	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12285993	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12294029	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12360903	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12363722	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12364620	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12365160	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12941	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17603185	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2155730	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2156463	0.86[ASN][1000 genomes]
rs2236708	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2282563	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2291467	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2472420	0.88[ASN][1000 genomes]
rs2510384	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2510392	0.86[ASN][1000 genomes]
rs2513277	0.88[ASN][1000 genomes]
rs2840367	0.89[ASN][1000 genomes]
rs3018713	0.88[ASN][1000 genomes]
rs3740628	0.88[ASN][1000 genomes]
rs3740629	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3740631	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3758643	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3824850	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4084149	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4316515	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4340059	0.88[ASN][1000 genomes]
rs488381	0.90[ASN][1000 genomes]
rs498782	0.83[ASN][1000 genomes]
rs4988291	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55767696	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55816191	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55883802	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55953412	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59056571	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs596494	0.90[ASN][1000 genomes]
rs60212556	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61391279	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs624003	0.85[ASN][1000 genomes]
rs643609	0.92[ASN][1000 genomes]
rs6591340	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6591341	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6591344	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6591346	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66752716	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67005337	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67101048	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67605986	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67947146	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7101691	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7102273	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7102898	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7104345	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7104877	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7106010	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7106259	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7106339	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7107622	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7108376	0.88[ASN][1000 genomes]
rs7109294	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7113287	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7115374	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7116899	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7116994	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7119422	0.89[ASN][1000 genomes]
rs7120557	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7120635	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7120876	0.93[ASN][1000 genomes]
rs7123564	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7124078	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7126340	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7126451	0.93[ASN][1000 genomes]
rs7127948	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7129248	0.93[ASN][1000 genomes]
rs73506204	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73516838	0.82[ASN][1000 genomes]
rs73518807	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7925275	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7927592	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7936582	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7944870	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7950900	0.97[ASN][1000 genomes]
rs871212	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs948315	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs948316	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897858	chr11:68077238-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv897860	chr11:68102000-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1036561	chr11:68123135-68315685	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv897863	chr11:68186392-68251460	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	esv1792339	chr11:68199008-68299226	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv1803199	chr11:68199008-68299226	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	esv1842405	chr11:68199008-68299226	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68238200-68264800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:68238400-68247600	Weak transcription	Stomach Mucosa	stomach
3	chr11:68238600-68287800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:68239200-68249200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:68239400-68246600	Weak transcription	Aorta	Aorta
6	chr11:68239400-68248600	Weak transcription	Esophagus	oesophagus
7	chr11:68239600-68247600	Weak transcription	Brain Substantia Nigra	brain
8	chr11:68239600-68248200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:68239600-68248400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:68239600-68254200	Weak transcription	HUVEC	blood vessel
11	chr11:68239800-68247600	Weak transcription	Fetal Heart	heart
12	chr11:68239800-68247800	Weak transcription	HSMMtube	muscle
13	chr11:68239800-68248000	Weak transcription	HSMM	muscle
14	chr11:68239800-68248400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr11:68239800-68248600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:68239800-68248600	Weak transcription	Pancreas	Pancrea
17	chr11:68240000-68247400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr11:68240000-68247800	Weak transcription	Brain Anterior Caudate	brain
19	chr11:68240000-68247800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr11:68240000-68248000	Weak transcription	NHLF	lung
21	chr11:68240000-68249200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr11:68240000-68251400	Weak transcription	Fetal Kidney	kidney
23	chr11:68240000-68269800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:68240200-68255400	Weak transcription	NHEK	skin
25	chr11:68240400-68262200	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr11:68240400-68262200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr11:68240600-68246600	Weak transcription	Fetal Brain Female	brain
28	chr11:68240800-68247200	Weak transcription	Spleen	Spleen
29	chr11:68240800-68262200	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr11:68241000-68246800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr11:68241000-68247600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr11:68241200-68247200	Weak transcription	Gastric	stomach
33	chr11:68241200-68248400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:68241200-68248600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr11:68241200-68248600	Weak transcription	Placenta	Placenta
36	chr11:68241200-68248800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:68241200-68253000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr11:68241200-68259400	Weak transcription	Thymus	Thymus
39	chr11:68241200-68264800	Weak transcription	K562	blood
40	chr11:68241400-68246400	Weak transcription	HMEC	breast
41	chr11:68241400-68247600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr11:68241600-68246200	Weak transcription	Primary hematopoietic stem cells	blood
43	chr11:68241600-68247600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:68241800-68245800	Weak transcription	GM12878-XiMat	blood
45	chr11:68241800-68246200	Weak transcription	Fetal Thymus	thymus
46	chr11:68241800-68246400	Weak transcription	Right Atrium	heart
47	chr11:68241800-68247400	Weak transcription	Primary T cells from cord blood	blood
48	chr11:68241800-68247600	Weak transcription	Brain Hippocampus Middle	brain
49	chr11:68241800-68247600	Weak transcription	Fetal Lung	lung
50	chr11:68241800-68247800	Weak transcription	Fetal Stomach	stomach

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