Variant report

Variant	rs4675759
Chromosome Location	chr2:209224578-209224579
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10186040	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs1030879	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12624141	1.00[AMR][1000 genomes]
rs1370368	1.00[AMR][1000 genomes]
rs1437417	0.83[YRI][hapmap]
rs2028144	1.00[AMR][1000 genomes]
rs4673400	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6435439	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6435447	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6710221	1.00[AMR][1000 genomes]
rs6728314	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6744236	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7596571	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7604977	1.00[AMR][1000 genomes]
rs995426	0.83[YRI][hapmap]

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	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv875752	chr2:209141066-209235373	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv437315	chr2:209204714-209249613	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209147400-209225600	Weak transcription	Stomach Mucosa	stomach
2	chr2:209180600-209224600	Strong transcription	Fetal Thymus	thymus
3	chr2:209198000-209224600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:209206600-209225400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:209215000-209225400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:209216800-209225000	Weak transcription	Spleen	Spleen
7	chr2:209216800-209226800	Weak transcription	Brain Germinal Matrix	brain
8	chr2:209217000-209225800	Weak transcription	Lung	lung
9	chr2:209217200-209225000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:209218800-209225400	Weak transcription	Fetal Brain Male	brain
11	chr2:209219400-209225200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:209219400-209228000	Weak transcription	Hela-S3	cervix
13	chr2:209220000-209227600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:209220000-209228000	Weak transcription	NHEK	skin
15	chr2:209220200-209225800	Weak transcription	Esophagus	oesophagus
16	chr2:209220200-209226000	Weak transcription	Aorta	Aorta
17	chr2:209220200-209226800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:209220200-209226800	Weak transcription	Gastric	stomach
19	chr2:209220200-209227200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr2:209220200-209228000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:209220200-209229800	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:209220200-209235200	Weak transcription	K562	blood
23	chr2:209220400-209224600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:209220400-209224800	Weak transcription	HepG2	liver
25	chr2:209220400-209225200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:209220400-209225600	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr2:209220400-209226600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr2:209220400-209227400	Weak transcription	Fetal Brain Female	brain
29	chr2:209220400-209227600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:209220400-209227800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:209220400-209227800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr2:209220400-209227800	Weak transcription	HMEC	breast
33	chr2:209220400-209228000	Weak transcription	Right Ventricle	heart
34	chr2:209220600-209225800	Weak transcription	Left Ventricle	heart
35	chr2:209220600-209226800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr2:209220600-209227800	Weak transcription	HSMMtube	muscle
37	chr2:209220600-209227800	Weak transcription	NH-A	brain
38	chr2:209221400-209225200	Weak transcription	Fetal Muscle Trunk	muscle
39	chr2:209221400-209226000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:209221800-209231200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr2:209222000-209227400	Weak transcription	NHDF-Ad	bronchial
42	chr2:209222000-209227800	Weak transcription	NHLF	lung
43	chr2:209222000-209228000	Weak transcription	Osteobl	bone
44	chr2:209222200-209228000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:209222400-209225600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr2:209222400-209225800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr2:209223000-209226200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr2:209223400-209225200	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr2:209223600-209224600	Strong transcription	Fetal Stomach	stomach
50	chr2:209223600-209224800	ZNF genes & repeats	Fetal Intestine Small	intestine

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