Variant report

Variant	rs66931335
Chromosome Location	chr2:73773933-73773934
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10190002	0.92[ASN][1000 genomes]
rs10192125	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10197233	0.85[EUR][1000 genomes]
rs1083920	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10865398	0.83[ASN][1000 genomes]
rs1091568	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11126407	0.86[EUR][1000 genomes]
rs11126408	0.85[EUR][1000 genomes]
rs11126409	0.84[EUR][1000 genomes]
rs11680056	0.85[EUR][1000 genomes]
rs11683970	0.86[EUR][1000 genomes]
rs11685372	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11688718	0.92[ASN][1000 genomes]
rs11689767	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12151671	0.86[EUR][1000 genomes]
rs1246094	0.81[ASN][1000 genomes]
rs1246096	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1246105	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12620569	0.86[EUR][1000 genomes]
rs12713783	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13007306	0.85[EUR][1000 genomes]
rs13007623	0.86[EUR][1000 genomes]
rs1406105	0.96[AFR][1000 genomes]
rs17349804	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1852645	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1852646	0.81[EUR][1000 genomes]
rs1852647	0.83[EUR][1000 genomes]
rs1879662	0.85[EUR][1000 genomes]
rs1879666	0.86[EUR][1000 genomes]
rs1881247	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1881248	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2017116	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2037814	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2280506	0.85[EUR][1000 genomes]
rs2280507	0.85[EUR][1000 genomes]
rs2421585	0.86[EUR][1000 genomes]
rs2421587	0.83[EUR][1000 genomes]
rs2421589	0.81[EUR][1000 genomes]
rs2421590	0.86[EUR][1000 genomes]
rs2421660	0.86[EUR][1000 genomes]
rs2421662	0.86[EUR][1000 genomes]
rs2461691	0.81[EUR][1000 genomes]
rs28708576	0.80[EUR][1000 genomes]
rs2948441	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2950770	0.93[EUR][1000 genomes]
rs34719281	0.86[EUR][1000 genomes]
rs3820700	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3980696	0.83[EUR][1000 genomes]
rs4241256	0.86[EUR][1000 genomes]
rs4436991	0.91[EUR][1000 genomes]
rs4443018	0.85[EUR][1000 genomes]
rs4511748	0.83[EUR][1000 genomes]
rs4852305	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4852309	0.84[EUR][1000 genomes]
rs4852310	0.86[EUR][1000 genomes]
rs4852936	0.92[EUR][1000 genomes]
rs4852937	0.93[EUR][1000 genomes]
rs4852940	0.85[EUR][1000 genomes]
rs4852948	0.85[EUR][1000 genomes]
rs4852949	0.86[EUR][1000 genomes]
rs55677218	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56054150	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56068325	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56770679	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62153184	0.93[ASN][1000 genomes]
rs6546830	0.82[EUR][1000 genomes]
rs6546831	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6546832	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs6546833	0.86[EUR][1000 genomes]
rs6546834	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6546842	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6546846	0.87[ASN][1000 genomes]
rs6546863	0.86[EUR][1000 genomes]
rs6546865	0.86[EUR][1000 genomes]
rs6546870	0.86[EUR][1000 genomes]
rs6712242	0.83[EUR][1000 genomes]
rs6725284	0.86[EUR][1000 genomes]
rs6729347	0.86[EUR][1000 genomes]
rs6729468	0.90[ASN][1000 genomes]
rs6734450	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6743576	0.86[ASN][1000 genomes]
rs6744273	0.85[EUR][1000 genomes]
rs6744697	0.91[ASN][1000 genomes]
rs6746458	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6757996	0.94[ASN][1000 genomes]
rs6759464	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67877078	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67898050	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs68154245	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72811933	0.80[ASN][1000 genomes]
rs72811939	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7566315	0.92[ASN][1000 genomes]
rs7570014	0.91[EUR][1000 genomes]
rs7579068	0.83[EUR][1000 genomes]
rs7585668	0.85[EUR][1000 genomes]
rs7608308	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7609034	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7609249	0.86[ASN][1000 genomes]
rs780388	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs780389	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs780390	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs780396	0.80[ASN][1000 genomes]
rs802113	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[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	nsv428051	chr2:73717032-74030067	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers 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 target site	22 gene(s)	inside rSNPs	diseases
2	esv2757806	chr2:73717032-74078592	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2759060	chr2:73717032-74078592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS 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	36 gene(s)	inside rSNPs	diseases
4	nsv874267	chr2:73717656-73857002	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73731800-73807600	Weak transcription	Hela-S3	cervix
2	chr2:73744200-73799800	Weak transcription	NH-A	brain
3	chr2:73747800-73786800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:73758000-73799800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:73758200-73785800	Weak transcription	Brain Substantia Nigra	brain
6	chr2:73758200-73800200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:73758400-73786800	Weak transcription	Brain Angular Gyrus	brain
8	chr2:73759400-73774200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:73759600-73828000	Weak transcription	Pancreas	Pancrea
10	chr2:73760600-73828000	Weak transcription	Right Ventricle	heart
11	chr2:73760800-73787000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:73762000-73786600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr2:73763800-73785200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:73764200-73777600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr2:73764200-73785000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:73764400-73785800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr2:73764600-73806800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr2:73764600-73807200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr2:73765200-73785000	Weak transcription	Fetal Kidney	kidney
20	chr2:73765200-73786600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr2:73765200-73807800	Weak transcription	Brain Anterior Caudate	brain
22	chr2:73765400-73786200	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr2:73765400-73786200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr2:73765400-73786200	Weak transcription	HSMM	muscle
25	chr2:73765400-73792000	Weak transcription	HSMMtube	muscle
26	chr2:73765400-73808400	Weak transcription	HepG2	liver
27	chr2:73765600-73774600	Weak transcription	Primary T cells from cord blood	blood
28	chr2:73765600-73786200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:73765600-73786200	Weak transcription	Fetal Lung	lung
30	chr2:73765600-73787200	Weak transcription	A549	lung
31	chr2:73765600-73799600	Weak transcription	Brain Hippocampus Middle	brain
32	chr2:73765800-73777000	Weak transcription	Dnd41	blood
33	chr2:73765800-73777200	Weak transcription	Liver	Liver
34	chr2:73765800-73815400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:73765800-73837800	Weak transcription	Fetal Brain Male	brain
36	chr2:73766000-73777800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr2:73766000-73785000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr2:73766000-73786000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr2:73766000-73793400	Weak transcription	Aorta	Aorta
40	chr2:73766000-73807400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:73766400-73775000	Weak transcription	Ovary	ovary
42	chr2:73766400-73775600	Weak transcription	Fetal Stomach	stomach
43	chr2:73766400-73778000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr2:73766400-73778200	Weak transcription	Fetal Intestine Small	intestine
45	chr2:73766400-73784200	Weak transcription	Left Ventricle	heart
46	chr2:73766400-73786000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:73766400-73786800	Weak transcription	Brain Germinal Matrix	brain
48	chr2:73766400-73799400	Weak transcription	Thymus	Thymus
49	chr2:73766400-73799600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:73766400-73799600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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