Variant report

Variant	rs2562843
Chromosome Location	chr2:179502389-179502390
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10930832	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12621078	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12621108	0.95[EUR][1000 genomes]
rs1366677	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1569407	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2163008	0.88[ASN][1000 genomes]
rs2243452	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2243804	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2246932	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2252350	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2252353	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2255480	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2288563	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2288566	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2288568	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2288570	0.91[EUR][1000 genomes]
rs2303829	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2303831	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2303832	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2562832	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2562835	0.87[EUR][1000 genomes]
rs2562837	0.87[EUR][1000 genomes]
rs2562841	0.87[EUR][1000 genomes]
rs2562842	0.87[EUR][1000 genomes]
rs2562844	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2562846	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2562847	0.83[ASN][1000 genomes]
rs2562848	0.88[ASN][1000 genomes]
rs2562849	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2562850	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2562851	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2562852	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2562853	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2562854	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2627034	0.87[EUR][1000 genomes]
rs2627038	0.81[ASN][1000 genomes]
rs2627039	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2627044	0.87[EUR][1000 genomes]
rs2742324	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2742328	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2742329	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2742330	0.87[EUR][1000 genomes]
rs2742332	0.87[EUR][1000 genomes]
rs2742333	0.95[EUR][1000 genomes]
rs2742334	0.87[EUR][1000 genomes]
rs2742335	0.87[EUR][1000 genomes]
rs2742337	0.87[EUR][1000 genomes]
rs2742339	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2742340	0.95[EUR][1000 genomes]
rs2742341	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2742342	0.87[EUR][1000 genomes]
rs2742343	0.87[EUR][1000 genomes]
rs2742344	0.87[EUR][1000 genomes]
rs2742349	0.84[ASN][1000 genomes]
rs2742350	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2742352	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2742353	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2742354	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2742355	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2742356	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2742358	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3731745	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3813245	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3813246	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3813247	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55639922	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55658446	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55675869	0.95[EUR][1000 genomes]
rs55706598	0.91[EUR][1000 genomes]
rs55847232	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56018860	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56101931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56145100	0.91[EUR][1000 genomes]
rs56214710	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56285382	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56352103	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56372427	0.91[EUR][1000 genomes]
rs72629796	0.95[EUR][1000 genomes]
rs72629800	0.87[EUR][1000 genomes]
rs72646834	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72646865	0.91[EUR][1000 genomes]
rs72646874	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72648257	1.00[EUR][1000 genomes]
rs72650085	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72677219	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72677228	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72677248	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[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	nsv834468	chr2:179351116-179533625	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2757841	chr2:179409072-179608242	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2759103	chr2:179409072-179608242	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1000642	chr2:179438866-179503211	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179408000-179503000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:179438400-179518200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:179440600-179505200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:179472400-179502600	Weak transcription	Brain Substantia Nigra	brain
5	chr2:179477000-179502400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:179479600-179519400	Weak transcription	Fetal Thymus	thymus
7	chr2:179479800-179512000	Weak transcription	Lung	lung
8	chr2:179481400-179520000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr2:179483200-179655400	Weak transcription	Adipose Nuclei	Adipose
10	chr2:179492800-179502800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:179492800-179502800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr2:179492800-179505600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:179493000-179505800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr2:179493000-179620800	Weak transcription	HSMM	muscle
15	chr2:179494200-179502800	Genic enhancers	Fetal Heart	heart
16	chr2:179495400-179502600	Strong transcription	Fetal Muscle Leg	muscle
17	chr2:179496000-179521600	Weak transcription	Fetal Intestine Large	intestine
18	chr2:179496400-179503000	Strong transcription	HSMMtube	muscle
19	chr2:179496800-179502800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
20	chr2:179497000-179502600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
21	chr2:179497400-179502400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr2:179497800-179516400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr2:179497800-179518400	Weak transcription	Pancreas	Pancrea
24	chr2:179497800-179530400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:179498000-179521000	Weak transcription	Right Ventricle	heart
26	chr2:179500000-179504000	Weak transcription	Psoas Muscle	Psoas
27	chr2:179500800-179514400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr2:179501000-179503200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr2:179501000-179541800	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr2:179501400-179503000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr2:179501400-179504000	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr2:179501400-179511200	Weak transcription	Ovary	ovary
33	chr2:179501400-179513600	Weak transcription	Primary B cells from cord blood	blood
34	chr2:179501400-179516000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:179501600-179502600	Strong transcription	Left Ventricle	heart
36	chr2:179501600-179516000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr2:179501800-179504000	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr2:179502000-179502800	Strong transcription	Primary T cells from cord blood	blood
39	chr2:179502200-179502400	Active TSS	Aorta	Aorta

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