Variant report

Variant	rs11689767
Chromosome Location	chr2:73766664-73766665
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10190002	0.88[ASN][1000 genomes]
rs10192125	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10197233	0.84[EUR][1000 genomes]
rs1083920	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10865398	0.82[ASN][1000 genomes]
rs1091568	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11126407	0.85[EUR][1000 genomes]
rs11126408	0.84[EUR][1000 genomes]
rs11126409	0.83[EUR][1000 genomes]
rs11680056	0.86[EUR][1000 genomes]
rs11683970	0.85[EUR][1000 genomes]
rs11685372	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11688718	0.91[ASN][1000 genomes]
rs12151671	0.85[EUR][1000 genomes]
rs1246094	0.82[ASN][1000 genomes]
rs1246096	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1246105	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12620569	0.85[EUR][1000 genomes]
rs12713783	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13007306	0.86[EUR][1000 genomes]
rs13007623	0.85[EUR][1000 genomes]
rs17349804	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1852645	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1879662	0.84[EUR][1000 genomes]
rs1879666	0.85[EUR][1000 genomes]
rs1881247	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1881248	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2017116	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2037814	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2280506	0.84[EUR][1000 genomes]
rs2280507	0.84[EUR][1000 genomes]
rs2421585	0.85[EUR][1000 genomes]
rs2421587	0.83[EUR][1000 genomes]
rs2421589	0.80[EUR][1000 genomes]
rs2421590	0.85[EUR][1000 genomes]
rs2421660	0.85[EUR][1000 genomes]
rs2421662	0.85[EUR][1000 genomes]
rs2948441	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2950770	0.89[EUR][1000 genomes]
rs34719281	0.85[EUR][1000 genomes]
rs3820700	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3980696	0.85[EUR][1000 genomes]
rs4241256	0.85[EUR][1000 genomes]
rs4436991	0.89[EUR][1000 genomes]
rs4443018	0.84[EUR][1000 genomes]
rs4511748	0.83[EUR][1000 genomes]
rs4852305	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4852309	0.85[EUR][1000 genomes]
rs4852310	0.85[EUR][1000 genomes]
rs4852936	0.90[EUR][1000 genomes]
rs4852937	0.91[EUR][1000 genomes]
rs4852940	0.86[EUR][1000 genomes]
rs4852948	0.84[EUR][1000 genomes]
rs4852949	0.85[EUR][1000 genomes]
rs55677218	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56054150	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56068325	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56770679	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62153184	0.88[ASN][1000 genomes]
rs6546831	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6546832	0.87[EUR][1000 genomes]
rs6546833	0.82[EUR][1000 genomes]
rs6546834	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6546842	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6546846	0.88[ASN][1000 genomes]
rs6546863	0.85[EUR][1000 genomes]
rs6546865	0.85[EUR][1000 genomes]
rs6546870	0.85[EUR][1000 genomes]
rs66931335	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6712242	0.83[EUR][1000 genomes]
rs6725284	0.85[EUR][1000 genomes]
rs6729347	0.85[EUR][1000 genomes]
rs6729468	0.89[ASN][1000 genomes]
rs6734450	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6743576	0.85[ASN][1000 genomes]
rs6744273	0.84[EUR][1000 genomes]
rs6744697	0.90[ASN][1000 genomes]
rs6746458	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6757996	0.93[ASN][1000 genomes]
rs6759464	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67877078	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67898050	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs68154245	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72811939	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7566315	0.88[ASN][1000 genomes]
rs7570014	0.88[EUR][1000 genomes]
rs7579068	0.83[EUR][1000 genomes]
rs7585668	0.84[EUR][1000 genomes]
rs7608308	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7609034	0.90[EUR][1000 genomes]
rs7609249	0.85[ASN][1000 genomes]
rs780388	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs780389	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs780390	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs802113	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73731800-73807600	Weak transcription	Hela-S3	cervix
2	chr2:73741000-73767400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:73744200-73799800	Weak transcription	NH-A	brain
4	chr2:73747800-73786800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:73756000-73766800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:73758000-73799800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:73758200-73785800	Weak transcription	Brain Substantia Nigra	brain
8	chr2:73758200-73800200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:73758400-73786800	Weak transcription	Brain Angular Gyrus	brain
10	chr2:73759400-73774200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:73759600-73828000	Weak transcription	Pancreas	Pancrea
12	chr2:73760400-73767800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:73760400-73769200	Weak transcription	Gastric	stomach
14	chr2:73760600-73828000	Weak transcription	Right Ventricle	heart
15	chr2:73760800-73787000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:73761000-73767000	Weak transcription	Psoas Muscle	Psoas
17	chr2:73762000-73786600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:73762600-73767000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
19	chr2:73762600-73767000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
20	chr2:73763200-73767000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
21	chr2:73763400-73767000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:73763800-73767000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:73763800-73785200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr2:73764200-73777600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:73764200-73785000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:73764400-73785800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr2:73764600-73806800	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr2:73764600-73807200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr2:73765000-73767000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr2:73765200-73785000	Weak transcription	Fetal Kidney	kidney
31	chr2:73765200-73786600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr2:73765200-73807800	Weak transcription	Brain Anterior Caudate	brain
33	chr2:73765400-73767600	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr2:73765400-73786200	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr2:73765400-73786200	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr2:73765400-73786200	Weak transcription	HSMM	muscle
37	chr2:73765400-73792000	Weak transcription	HSMMtube	muscle
38	chr2:73765400-73808400	Weak transcription	HepG2	liver
39	chr2:73765600-73774600	Weak transcription	Primary T cells from cord blood	blood
40	chr2:73765600-73786200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:73765600-73786200	Weak transcription	Fetal Lung	lung
42	chr2:73765600-73787200	Weak transcription	A549	lung
43	chr2:73765600-73799600	Weak transcription	Brain Hippocampus Middle	brain
44	chr2:73765800-73768600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr2:73765800-73777000	Weak transcription	Dnd41	blood
46	chr2:73765800-73777200	Weak transcription	Liver	Liver
47	chr2:73765800-73815400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:73765800-73837800	Weak transcription	Fetal Brain Male	brain
49	chr2:73766000-73777800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr2:73766000-73785000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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