Variant report

Variant	rs4675760
Chromosome Location	chr2:209224641-209224642
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10171006	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs10175739	1.00[ASN][1000 genomes]
rs10186531	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10197824	0.81[AFR][1000 genomes]
rs10197951	0.82[AFR][1000 genomes]
rs10197958	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs10201702	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10208004	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs10208191	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10208295	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10210393	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10804168	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs10932256	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs10932259	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11677618	0.80[AMR][1000 genomes]
rs11691208	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11691313	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11693993	0.94[ASN][1000 genomes]
rs11695873	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12479282	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12617521	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12618837	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12621871	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12623816	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12694105	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12694109	1.00[ASN][1000 genomes]
rs12694111	0.80[AMR][1000 genomes]
rs1370370	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1437414	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1465803	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1465804	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1469941	1.00[ASN][1000 genomes]
rs1529976	0.80[AFR][1000 genomes]
rs1529979	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1561240	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16841092	0.94[ASN][1000 genomes]
rs1866044	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1866045	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1898436	0.89[ASN][1000 genomes]
rs1898437	0.85[ASN][1000 genomes]
rs2118295	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2118296	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2118297	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2304544	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2363468	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2363469	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2363579	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2885786	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs4499359	0.81[AFR][1000 genomes]
rs4673390	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs4673392	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs4673395	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs4673396	0.82[AFR][1000 genomes]
rs4675750	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs4675754	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4675755	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4675757	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4675758	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4675761	0.94[ASN][1000 genomes]
rs57553077	1.00[ASN][1000 genomes]
rs59149007	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6435441	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs6435443	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6435444	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6435445	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6435446	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6435450	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6435452	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6435454	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6708926	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6711933	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs6713477	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6718402	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6721780	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6725932	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6733607	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs6734963	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6742461	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs6751982	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6758207	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7355562	0.94[ASN][1000 genomes]
rs7569723	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs7574324	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7581075	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs7592472	0.94[ASN][1000 genomes]
rs893253	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs893255	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs893256	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs9283521	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs934712	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs934714	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs959855	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs9646839	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs976247	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs994696	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs994697	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][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	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:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209147400-209225600	Weak transcription	Stomach Mucosa	stomach
2	chr2:209206600-209225400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:209215000-209225400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:209216800-209225000	Weak transcription	Spleen	Spleen
5	chr2:209216800-209226800	Weak transcription	Brain Germinal Matrix	brain
6	chr2:209217000-209225800	Weak transcription	Lung	lung
7	chr2:209217200-209225000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:209218800-209225400	Weak transcription	Fetal Brain Male	brain
9	chr2:209219400-209225200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:209219400-209228000	Weak transcription	Hela-S3	cervix
11	chr2:209220000-209227600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr2:209220000-209228000	Weak transcription	NHEK	skin
13	chr2:209220200-209225800	Weak transcription	Esophagus	oesophagus
14	chr2:209220200-209226000	Weak transcription	Aorta	Aorta
15	chr2:209220200-209226800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:209220200-209226800	Weak transcription	Gastric	stomach
17	chr2:209220200-209227200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr2:209220200-209228000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:209220200-209229800	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:209220200-209235200	Weak transcription	K562	blood
21	chr2:209220400-209224800	Weak transcription	HepG2	liver
22	chr2:209220400-209225200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:209220400-209225600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr2:209220400-209226600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr2:209220400-209227400	Weak transcription	Fetal Brain Female	brain
26	chr2:209220400-209227600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:209220400-209227800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr2:209220400-209227800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:209220400-209227800	Weak transcription	HMEC	breast
30	chr2:209220400-209228000	Weak transcription	Right Ventricle	heart
31	chr2:209220600-209225800	Weak transcription	Left Ventricle	heart
32	chr2:209220600-209226800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr2:209220600-209227800	Weak transcription	HSMMtube	muscle
34	chr2:209220600-209227800	Weak transcription	NH-A	brain
35	chr2:209221400-209225200	Weak transcription	Fetal Muscle Trunk	muscle
36	chr2:209221400-209226000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:209221800-209231200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr2:209222000-209227400	Weak transcription	NHDF-Ad	bronchial
39	chr2:209222000-209227800	Weak transcription	NHLF	lung
40	chr2:209222000-209228000	Weak transcription	Osteobl	bone
41	chr2:209222200-209228000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:209222400-209225600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:209222400-209225800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr2:209223000-209226200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr2:209223400-209225200	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr2:209223600-209224800	ZNF genes & repeats	Fetal Intestine Small	intestine
47	chr2:209223600-209224800	Active TSS	Placenta	Placenta
48	chr2:209223600-209225200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr2:209223600-209225800	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr2:209223600-209226000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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