Variant report

Variant	rs2940917
Chromosome Location	chr5:42467455-42467456
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 132 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs10061299	0.82[ASW][hapmap];0.89[CEU][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap]
rs10064323	0.89[ASN][1000 genomes]
rs10755268	0.90[EUR][1000 genomes]
rs10941576	0.89[ASN][1000 genomes]
rs1117110	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11738365	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11741390	0.82[CHD][hapmap]
rs11742495	0.95[EUR][1000 genomes]
rs11747975	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs11748366	0.81[CEU][hapmap];0.94[TSI][hapmap];0.94[EUR][1000 genomes]
rs11957616	0.81[CEU][hapmap];0.93[EUR][1000 genomes]
rs12513643	0.87[ASN][1000 genomes]
rs12514403	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs12515480	0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12517368	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12517931	0.87[ASN][1000 genomes]
rs12518010	0.96[ASN][1000 genomes]
rs12518274	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12520318	0.87[ASN][1000 genomes]
rs12522222	0.96[ASN][1000 genomes]
rs12522421	0.96[ASN][1000 genomes]
rs12523537	0.89[ASN][1000 genomes]
rs12654242	0.86[ASN][1000 genomes]
rs13162973	0.90[EUR][1000 genomes]
rs13166255	0.83[ASN][1000 genomes]
rs13185872	0.89[ASN][1000 genomes]
rs1396768	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1396773	0.90[EUR][1000 genomes]
rs1396775	0.89[ASN][1000 genomes]
rs1467049	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs1472947	0.89[ASN][1000 genomes]
rs1509452	0.90[CEU][hapmap];0.94[EUR][1000 genomes]
rs1509455	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1509456	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.90[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1509460	0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1509462	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1509463	0.82[CHB][hapmap]
rs1567374	0.90[EUR][1000 genomes]
rs1605848	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs1605851	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16872537	0.91[ASN][1000 genomes]
rs16872543	0.91[ASN][1000 genomes]
rs16872564	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1858136	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1858137	0.90[EUR][1000 genomes]
rs1858138	0.91[ASN][1000 genomes]
rs1858139	0.86[EUR][1000 genomes]
rs1876788	0.90[EUR][1000 genomes]
rs1876790	0.89[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1912107	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs1960498	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1979994	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2036745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2175126	0.93[EUR][1000 genomes]
rs2202883	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2221712	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2395970	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28498583	0.96[ASN][1000 genomes]
rs28943877	0.91[ASN][1000 genomes]
rs28943879	0.87[ASN][1000 genomes]
rs2940912	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2940914	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2940916	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs2940918	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2940919	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2940920	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs2940922	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2940923	0.86[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2940926	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs2940927	0.80[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2940929	0.89[EUR][1000 genomes]
rs2940931	0.96[EUR][1000 genomes]
rs2940934	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2940935	0.90[CEU][hapmap];0.94[EUR][1000 genomes]
rs2940939	0.88[EUR][1000 genomes]
rs2940940	0.91[ASN][1000 genomes]
rs2940942	0.90[CEU][hapmap];0.94[EUR][1000 genomes]
rs2940943	0.90[CEU][hapmap];0.93[EUR][1000 genomes]
rs2940945	0.91[ASN][1000 genomes]
rs2972394	0.89[ASN][1000 genomes]
rs2972395	0.90[EUR][1000 genomes]
rs2972400	0.89[CEU][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];0.90[EUR][1000 genomes]
rs2972404	0.96[EUR][1000 genomes]
rs2972406	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2972407	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2972408	1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2972410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972411	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972412	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972413	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972414	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2972415	0.89[EUR][1000 genomes]
rs2972416	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2972417	0.90[EUR][1000 genomes]
rs2972418	0.82[CHB][hapmap]
rs2972419	0.90[CEU][hapmap];0.94[TSI][hapmap];0.94[EUR][1000 genomes]
rs34509769	0.96[EUR][1000 genomes]
rs3764453	0.89[ASN][1000 genomes]
rs4358532	0.84[ASN][1000 genomes]
rs4642376	0.88[ASW][hapmap];0.89[CEU][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];0.91[EUR][1000 genomes]
rs4866781	0.96[ASN][1000 genomes]
rs4866782	0.96[ASN][1000 genomes]
rs4866788	0.96[ASN][1000 genomes]
rs4866790	0.82[CHB][hapmap]
rs4866795	0.91[ASN][1000 genomes]
rs4866890	0.90[EUR][1000 genomes]
rs4866896	0.91[ASN][1000 genomes]
rs4866901	0.91[ASN][1000 genomes]
rs4866919	0.96[ASN][1000 genomes]
rs4866935	0.82[CHB][hapmap]
rs60126365	0.93[EUR][1000 genomes]
rs61636452	0.94[EUR][1000 genomes]
rs62370646	0.90[EUR][1000 genomes]
rs62370648	0.93[EUR][1000 genomes]
rs6451614	0.90[EUR][1000 genomes]
rs6451621	0.84[ASN][1000 genomes]
rs6876736	0.81[CEU][hapmap];0.91[TSI][hapmap];0.93[EUR][1000 genomes]
rs6881436	0.88[EUR][1000 genomes]
rs6884737	0.94[EUR][1000 genomes]
rs7379192	0.90[EUR][1000 genomes]
rs7704355	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs7728337	1.00[CEU][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs906817	0.91[ASN][1000 genomes]
rs9686286	0.89[EUR][1000 genomes]
rs9686537	0.89[ASN][1000 genomes]
rs9687863	0.86[ASN][1000 genomes]
rs974051	0.90[CEU][hapmap];0.95[EUR][1000 genomes]
rs979233	0.89[ASN][1000 genomes]
rs991592	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv948514	chr5:42270161-42519262	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2940917	TTC33	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42454800-42471800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:42455000-42469600	Weak transcription	Lung	lung
3	chr5:42455000-42474400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr5:42455000-42477400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:42462000-42468200	Weak transcription	Fetal Muscle Leg	muscle
6	chr5:42462000-42468400	Weak transcription	Adipose Nuclei	Adipose
7	chr5:42462000-42471600	Weak transcription	Fetal Intestine Large	intestine
8	chr5:42462000-42472000	Weak transcription	Fetal Lung	lung
9	chr5:42462200-42470000	Weak transcription	Left Ventricle	heart
10	chr5:42462200-42470400	Weak transcription	Fetal Intestine Small	intestine
11	chr5:42462200-42470800	Weak transcription	Aorta	Aorta
12	chr5:42462200-42470800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr5:42462200-42471000	Weak transcription	Ovary	ovary
14	chr5:42462200-42471600	Weak transcription	Psoas Muscle	Psoas
15	chr5:42462200-42472200	Weak transcription	Fetal Heart	heart
16	chr5:42464400-42470000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr5:42466400-42468400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:42466800-42472400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:42467000-42469200	Strong transcription	Fetal Stomach	stomach
20	chr5:42467000-42470000	Strong transcription	Liver	Liver

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