Variant report

Variant	rs59272166
Chromosome Location	chr2:231403462-231403463
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs73097010	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73097022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73097024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73098961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73098989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73101009	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73101040	0.81[AFR][1000 genomes];1.00[AMR][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:46 , 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	chr2:231390600-231403800	Weak transcription	Ovary	ovary
3	chr2:231390600-231404000	Weak transcription	Left Ventricle	heart
4	chr2:231390600-231404000	Weak transcription	Lung	lung
5	chr2:231390600-231408200	Weak transcription	Esophagus	oesophagus
6	chr2:231390800-231405600	Weak transcription	Thymus	Thymus
7	chr2:231390800-231409200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:231391000-231406400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:231398000-231405600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:231398400-231406200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr2:231398600-231404000	Weak transcription	Aorta	Aorta
12	chr2:231399000-231404200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr2:231399600-231405000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:231399800-231404000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:231400200-231404600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr2:231401000-231404000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:231401000-231430200	Weak transcription	Pancreas	Pancrea
18	chr2:231401400-231405200	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:231401400-231408600	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:231401800-231404000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:231401800-231404000	Weak transcription	Spleen	Spleen
22	chr2:231401800-231404400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:231401800-231406400	Weak transcription	Osteobl	bone
24	chr2:231401800-231409200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:231402000-231403800	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr2:231402000-231403800	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr2:231402000-231404200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr2:231402200-231404000	Weak transcription	Primary T cells from cord blood	blood
29	chr2:231402200-231404000	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr2:231402200-231406200	Weak transcription	Right Ventricle	heart
31	chr2:231402400-231403600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr2:231402400-231404200	Weak transcription	Adipose Nuclei	Adipose
33	chr2:231402400-231404400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:231402400-231404800	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr2:231402400-231405400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:231402600-231406000	Weak transcription	Liver	Liver
37	chr2:231402800-231404000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:231402800-231404200	Enhancers	GM12878-XiMat	blood
39	chr2:231402800-231405600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:231402800-231405600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr2:231402800-231405600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:231402800-231406000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:231403000-231405600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr2:231403200-231404200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr2:231403200-231406600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr2:231403200-231410200	Strong transcription	Primary B cells from cord blood	blood

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