Variant report

Variant	rs17349804
Chromosome Location	chr2:73783160-73783161
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 120 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10190002	0.87[JPT][hapmap]
rs10192125	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10197233	0.88[EUR][1000 genomes]
rs1052161	0.94[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs1083920	0.87[EUR][1000 genomes]
rs1083922	0.81[JPT][hapmap]
rs10865398	0.81[JPT][hapmap]
rs1091568	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11126402	0.90[ASN][1000 genomes]
rs11126407	0.89[EUR][1000 genomes]
rs11126408	0.88[EUR][1000 genomes]
rs11126409	0.87[EUR][1000 genomes]
rs11126411	0.83[CEU][hapmap]
rs11680056	0.88[EUR][1000 genomes]
rs11683970	0.89[EUR][1000 genomes]
rs11685372	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11689767	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12151671	0.89[EUR][1000 genomes]
rs1246096	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1246105	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12478871	1.00[CEU][hapmap]
rs12618600	0.86[JPT][hapmap]
rs12620569	0.89[EUR][1000 genomes]
rs12713783	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13007306	0.88[EUR][1000 genomes]
rs13007623	0.89[EUR][1000 genomes]
rs1320374	0.94[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs13386124	0.89[ASN][1000 genomes]
rs13399087	0.87[ASN][1000 genomes]
rs1406105	0.85[JPT][hapmap]
rs1852645	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1852647	0.91[CEU][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs1879662	0.88[EUR][1000 genomes]
rs1879666	0.89[EUR][1000 genomes]
rs1881246	0.82[JPT][hapmap]
rs1881247	0.91[CEU][hapmap];0.93[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1881248	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2017116	0.91[CEU][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes]
rs2037814	0.91[CEU][hapmap];0.93[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2280506	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs2280507	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2421545	0.87[JPT][hapmap]
rs2421546	0.82[JPT][hapmap]
rs2421581	1.00[CEU][hapmap];0.87[JPT][hapmap]
rs2421583	0.82[JPT][hapmap]
rs2421585	0.89[EUR][1000 genomes]
rs2421587	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2421589	0.84[EUR][1000 genomes]
rs2421590	0.89[EUR][1000 genomes]
rs2421660	0.89[EUR][1000 genomes]
rs2421662	0.89[EUR][1000 genomes]
rs2421669	1.00[CEU][hapmap];0.87[JPT][hapmap]
rs2860579	0.81[EUR][1000 genomes]
rs28708576	0.83[EUR][1000 genomes]
rs2947845	0.84[CEU][hapmap]
rs2948441	1.00[CEU][hapmap];0.94[JPT][hapmap];0.98[EUR][1000 genomes]
rs2950770	0.92[EUR][1000 genomes]
rs34719281	0.89[EUR][1000 genomes]
rs3820700	0.91[CEU][hapmap];0.93[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3980696	0.87[EUR][1000 genomes]
rs4241256	0.89[EUR][1000 genomes]
rs4436991	0.94[EUR][1000 genomes]
rs4443018	0.88[EUR][1000 genomes]
rs4511748	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs4627598	0.84[CEU][hapmap]
rs4637150	0.81[EUR][1000 genomes]
rs4852305	0.91[CEU][hapmap];0.87[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4852309	0.87[EUR][1000 genomes]
rs4852310	0.89[EUR][1000 genomes]
rs4852311	1.00[CEU][hapmap]
rs4852936	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4852937	0.97[EUR][1000 genomes]
rs4852940	0.88[EUR][1000 genomes]
rs4852948	0.88[EUR][1000 genomes]
rs4852949	0.89[EUR][1000 genomes]
rs55677218	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56054150	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56068325	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56770679	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6546830	0.81[EUR][1000 genomes]
rs6546831	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6546832	0.91[CEU][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6546833	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6546834	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6546842	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6546863	0.89[EUR][1000 genomes]
rs6546865	0.89[EUR][1000 genomes]
rs6546870	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs66931335	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6712242	0.87[EUR][1000 genomes]
rs6722867	0.87[ASN][1000 genomes]
rs6725284	0.89[EUR][1000 genomes]
rs6729347	0.89[EUR][1000 genomes]
rs6732440	0.87[JPT][hapmap]
rs6734450	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6742619	0.82[JPT][hapmap]
rs6744273	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs6745560	0.80[JPT][hapmap]
rs6746458	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6749680	0.81[JPT][hapmap]
rs6759464	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67877078	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67898050	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs68154245	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72811939	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7570014	0.94[EUR][1000 genomes]
rs7579068	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs7585668	0.88[EUR][1000 genomes]
rs7607989	0.84[CEU][hapmap]
rs7608308	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7609034	0.95[EUR][1000 genomes]
rs780388	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs780389	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs780390	0.91[CEU][hapmap];0.93[JPT][hapmap];0.92[EUR][1000 genomes]
rs780396	0.94[JPT][hapmap]
rs802113	0.92[AMR][1000 genomes];0.94[EUR][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:87 , 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	chr2:73759600-73828000	Weak transcription	Pancreas	Pancrea
9	chr2:73760600-73828000	Weak transcription	Right Ventricle	heart
10	chr2:73760800-73787000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:73762000-73786600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr2:73763800-73785200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:73764200-73785000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr2:73764400-73785800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr2:73764600-73806800	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr2:73764600-73807200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr2:73765200-73785000	Weak transcription	Fetal Kidney	kidney
18	chr2:73765200-73786600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr2:73765200-73807800	Weak transcription	Brain Anterior Caudate	brain
20	chr2:73765400-73786200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr2:73765400-73786200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr2:73765400-73786200	Weak transcription	HSMM	muscle
23	chr2:73765400-73792000	Weak transcription	HSMMtube	muscle
24	chr2:73765400-73808400	Weak transcription	HepG2	liver
25	chr2:73765600-73786200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:73765600-73786200	Weak transcription	Fetal Lung	lung
27	chr2:73765600-73787200	Weak transcription	A549	lung
28	chr2:73765600-73799600	Weak transcription	Brain Hippocampus Middle	brain
29	chr2:73765800-73815400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:73765800-73837800	Weak transcription	Fetal Brain Male	brain
31	chr2:73766000-73785000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:73766000-73786000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr2:73766000-73793400	Weak transcription	Aorta	Aorta
34	chr2:73766000-73807400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:73766400-73784200	Weak transcription	Left Ventricle	heart
36	chr2:73766400-73786000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:73766400-73786800	Weak transcription	Brain Germinal Matrix	brain
38	chr2:73766400-73799400	Weak transcription	Thymus	Thymus
39	chr2:73766400-73799600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:73766400-73799600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr2:73766400-73799600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr2:73766400-73799600	Weak transcription	Lung	lung
43	chr2:73766400-73803200	Weak transcription	Fetal Intestine Large	intestine
44	chr2:73767000-73784800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr2:73767000-73785000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:73767200-73791800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr2:73769200-73802800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr2:73771200-73785000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr2:73772000-73799600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr2:73772200-73799400	Weak transcription	Fetal Brain Female	brain

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