Variant report

Variant	rs12491623
Chromosome Location	chr3:161111593-161111594
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12486111	0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12486998	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12487002	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12488127	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12494520	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13319558	0.85[AMR][1000 genomes]
rs1450518	0.97[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2035499	0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2306209	0.85[AMR][1000 genomes]
rs56839556	0.90[ASN][1000 genomes]
rs58851337	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58892449	0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs59193340	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs59368066	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6441375	0.82[AMR][1000 genomes]
rs6781086	0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6787697	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6793980	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73878309	0.85[AMR][1000 genomes]
rs73878323	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73878329	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7614130	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7629841	0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7651924	0.82[AMR][1000 genomes]
rs9822705	0.85[AMR][1000 genomes]
rs9851699	0.82[AMR][1000 genomes]
rs9855572	0.82[AMR][1000 genomes]
rs9860980	0.85[AMR][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	nsv931072	chr3:160669567-161159779	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv533237	chr3:161019834-161804660	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	91 gene(s)	inside rSNPs	diseases
3	nsv829772	chr3:161047817-161202554	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	88 gene(s)	inside rSNPs	diseases
4	nsv877710	chr3:161087857-161245414	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161107800-161112800	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr3:161108200-161111800	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr3:161108600-161111600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr3:161108800-161114400	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr3:161110000-161112400	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr3:161110000-161112600	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr3:161110000-161114600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr3:161110200-161112600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr3:161110200-161113200	Enhancers	Stomach Mucosa	stomach
10	chr3:161110200-161114400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr3:161110200-161114600	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr3:161110600-161111800	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr3:161110600-161112000	Enhancers	HepG2	liver
14	chr3:161110600-161112400	Enhancers	Fetal Lung	lung
15	chr3:161110600-161112600	Enhancers	Primary T cells from cord blood	blood
16	chr3:161110800-161111600	Enhancers	Liver	Liver
17	chr3:161110800-161112000	Weak transcription	Gastric	stomach
18	chr3:161110800-161113600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr3:161111200-161113400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr3:161111400-161113200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr3:161111400-161113600	Enhancers	Monocytes-CD14+_RO01746	blood

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