Variant report

Variant	rs1678152
Chromosome Location	chr2:231390683-231390684
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11687978	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1615764	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1649895	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1649923	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1678157	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1678158	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1678175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1678184	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1678186	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1678188	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1678196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1678197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1678208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2559092	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4972956	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4973329	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55736462	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62193429	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62193432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6711920	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6712053	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6740413	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs699662	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs699663	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs836230	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs836231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs836233	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs836234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs836235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs856838	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs860704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs866270	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[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	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv875948	chr2:231380697-231420401	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv584673	chr2:231385231-231433237	Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231371000-231409800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr2:231378000-231390800	Weak transcription	Spleen	Spleen
3	chr2:231385400-231391000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:231386800-231391000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr2:231389200-231391000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
6	chr2:231389400-231391200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:231389600-231390800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:231389600-231391000	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr2:231390000-231390800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr2:231390000-231390800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:231390000-231391000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:231390200-231390800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:231390200-231390800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:231390200-231390800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:231390200-231390800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:231390200-231390800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:231390200-231390800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:231390200-231391000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:231390200-231391000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr2:231390200-231391000	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr2:231390200-231391000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr2:231390400-231390800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:231390400-231390800	Active TSS	Primary T cells from cord blood	blood
24	chr2:231390400-231390800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr2:231390400-231390800	ZNF genes & repeats	Liver	Liver
26	chr2:231390600-231390800	Enhancers	Primary T cells fromperipheralblood	blood
27	chr2:231390600-231390800	Enhancers	Thymus	Thymus
28	chr2:231390600-231403800	Weak transcription	Ovary	ovary
29	chr2:231390600-231404000	Weak transcription	Left Ventricle	heart
30	chr2:231390600-231404000	Weak transcription	Lung	lung
31	chr2:231390600-231408200	Weak transcription	Esophagus	oesophagus

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