Variant report

Variant	rs283480
Chromosome Location	chr2:233648742-233648743
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs1022330	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1044480	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10933409	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10933411	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10933412	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11555646	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676216	0.80[ASN][1000 genomes]
rs11679079	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11687128	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11692545	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12472839	0.88[EUR][1000 genomes]
rs12474040	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12478564	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12694917	0.80[ASN][1000 genomes]
rs12987513	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12990821	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12991088	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12997185	0.85[EUR][1000 genomes]
rs13003675	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13003738	0.81[ASN][1000 genomes]
rs13004406	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13007783	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13008942	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13011298	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13013142	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13021246	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13024793	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs13035829	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13424351	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1446308	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446310	0.91[ASN][1000 genomes]
rs1446311	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1801251	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1867778	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2012221	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2100053	0.81[AMR][1000 genomes]
rs2305137	0.81[AMR][1000 genomes]
rs2305141	0.91[ASN][1000 genomes]
rs2592105	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2592113	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2674839	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs283466	0.91[ASN][1000 genomes]
rs283468	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs283469	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs283471	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs283474	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs283475	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs283476	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs283477	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs283478	0.82[ASN][1000 genomes]
rs283479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283484	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283485	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283486	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33980184	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34880628	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35085837	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35212961	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35285732	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35362030	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35395584	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35621474	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36007169	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3816334	0.83[AMR][1000 genomes]
rs3817311	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4452130	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4458205	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4517962	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4973053	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4973054	0.81[AMR][1000 genomes]
rs4973559	0.81[ASN][1000 genomes]
rs4973560	0.88[ASN][1000 genomes]
rs4973561	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs56777991	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6437074	0.83[AMR][1000 genomes]
rs66549961	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67013068	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6714245	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6717841	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6719061	0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6724117	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6732136	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6733151	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6738386	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6739638	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6745879	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6746294	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6747645	0.90[EUR][1000 genomes]
rs6748027	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6761324	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71421663	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs737028	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7558609	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7562712	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7573208	0.89[ASN][1000 genomes]
rs7578299	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7587309	0.80[EUR][1000 genomes]
rs7591176	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7592717	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7606090	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs778166	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9653383	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9679089	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs983430	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs991873	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv460134	chr2:233639909-233714686	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv584696	chr2:233639909-233714686	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233585200-233655000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:233628600-233655400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:233629200-233655800	Weak transcription	Colonic Mucosa	Colon
4	chr2:233629400-233649600	Weak transcription	Spleen	Spleen
5	chr2:233629400-233652600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:233629400-233655200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:233629400-233655400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:233631600-233659200	Weak transcription	Psoas Muscle	Psoas
9	chr2:233633400-233652600	Weak transcription	Brain Germinal Matrix	brain
10	chr2:233633600-233649600	Weak transcription	Pancreas	Pancrea
11	chr2:233636200-233649600	Weak transcription	Aorta	Aorta
12	chr2:233636200-233649600	Weak transcription	Lung	lung
13	chr2:233636200-233650000	Weak transcription	Fetal Brain Male	brain
14	chr2:233636200-233651400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:233636200-233655200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:233636200-233655200	Weak transcription	NHLF	lung
17	chr2:233636200-233655400	Weak transcription	Esophagus	oesophagus
18	chr2:233636400-233649200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:233636400-233651800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr2:233636400-233651800	Weak transcription	NH-A	brain
21	chr2:233636400-233655000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:233636800-233650000	Weak transcription	Osteobl	bone
23	chr2:233637000-233649400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:233637000-233651000	Weak transcription	Left Ventricle	heart
25	chr2:233637000-233652600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:233637400-233649600	Weak transcription	Thymus	Thymus
27	chr2:233637400-233649800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr2:233637600-233648800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:233637600-233649600	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr2:233637600-233652400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:233637800-233651800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr2:233637800-233652400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr2:233637800-233652400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr2:233638000-233651600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr2:233638000-233653800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr2:233638400-233651800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr2:233638400-233651800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr2:233639200-233650000	Weak transcription	Fetal Brain Female	brain
39	chr2:233639400-233652400	Weak transcription	HUVEC	blood vessel
40	chr2:233640000-233652400	Weak transcription	Primary B cells from cord blood	blood
41	chr2:233641400-233651800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:233641400-233652000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:233641400-233654200	Weak transcription	Fetal Kidney	kidney
44	chr2:233641400-233655000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr2:233641400-233655000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr2:233641400-233662400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr2:233641600-233648800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:233641600-233650000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr2:233641600-233651200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr2:233641600-233651800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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