Variant report

Variant	rs9653383
Chromosome Location	chr2:233670380-233670381
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 139 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:132)

rs_ID	r²[population]
rs1022330	0.93[EUR][1000 genomes]
rs1044480	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10933409	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10933411	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10933412	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11555646	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11676216	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11679079	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11687128	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11690474	0.82[EUR][1000 genomes]
rs11692545	0.92[EUR][1000 genomes]
rs12472839	0.89[EUR][1000 genomes]
rs12474040	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12478564	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12694917	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12987513	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12990821	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12991088	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12997185	0.86[EUR][1000 genomes]
rs13003675	0.80[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13004406	0.93[EUR][1000 genomes]
rs13007783	0.91[EUR][1000 genomes]
rs13008942	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13011298	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13013142	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13021246	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13024793	0.86[EUR][1000 genomes]
rs13035829	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13424351	0.91[EUR][1000 genomes]
rs1446308	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1446310	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1446311	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1801251	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1867778	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1947105	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2012221	0.91[EUR][1000 genomes]
rs2044449	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2100053	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2250654	0.80[ASN][1000 genomes]
rs2250665	0.80[ASN][1000 genomes]
rs2305137	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2305141	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2592102	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2592105	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2592113	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2592115	0.84[ASN][1000 genomes]
rs2592116	0.84[ASN][1000 genomes]
rs2592117	0.84[ASN][1000 genomes]
rs2592126	0.80[ASN][1000 genomes]
rs2674839	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2675966	0.84[ASN][1000 genomes]
rs2675967	0.84[ASN][1000 genomes]
rs2675971	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2675973	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2675974	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs283466	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs283468	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs283469	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs283471	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs283474	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs283475	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs283476	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs283477	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs283479	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs283480	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs283481	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs283484	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs283485	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs283486	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs33980184	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34880628	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35085837	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35212961	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35285732	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35362030	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35395584	0.92[EUR][1000 genomes]
rs35621474	0.92[EUR][1000 genomes]
rs36007169	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3816334	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3817311	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4452130	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4458205	0.89[EUR][1000 genomes]
rs4517962	0.93[EUR][1000 genomes]
rs4973053	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4973054	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4973055	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4973056	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4973559	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4973560	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4973561	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs56777991	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6437074	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66549961	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67013068	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6714245	0.92[EUR][1000 genomes]
rs6717841	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6719061	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6724117	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6732136	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6733151	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6738386	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6739638	0.92[EUR][1000 genomes]
rs6745879	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6746294	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6747645	0.91[EUR][1000 genomes]
rs6748027	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6761324	0.93[EUR][1000 genomes]
rs709933	0.84[ASN][1000 genomes]
rs709934	0.84[ASN][1000 genomes]
rs71421663	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs737028	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7558609	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7562712	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7568385	0.82[EUR][1000 genomes]
rs7573208	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7578299	0.92[EUR][1000 genomes]
rs7587309	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7589201	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7591176	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7592717	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7606090	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs778166	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs778338	0.84[ASN][1000 genomes]
rs778339	0.82[ASN][1000 genomes]
rs778340	0.84[ASN][1000 genomes]
rs778368	0.81[ASN][1000 genomes]
rs809639	0.84[ASN][1000 genomes]
rs812383	0.84[ASN][1000 genomes]
rs895430	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9679089	0.86[EUR][1000 genomes]
rs983430	0.91[EUR][1000 genomes]
rs991873	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	esv3427756	chr2:233661496-233680721	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233649000-233680600	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr2:233655600-233689200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:233656600-233671200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:233656800-233674000	Weak transcription	Fetal Heart	heart
5	chr2:233658000-233671200	Weak transcription	NHLF	lung
6	chr2:233658400-233671200	Weak transcription	Gastric	stomach
7	chr2:233658800-233671200	Weak transcription	Small Intestine	intestine
8	chr2:233659000-233671200	Weak transcription	Fetal Brain Male	brain
9	chr2:233659600-233671200	Weak transcription	Pancreas	Pancrea
10	chr2:233659600-233671600	Weak transcription	Spleen	Spleen
11	chr2:233659800-233671200	Weak transcription	Brain Substantia Nigra	brain
12	chr2:233659800-233672400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr2:233660800-233688600	Weak transcription	Psoas Muscle	Psoas
14	chr2:233661200-233671000	Weak transcription	NHDF-Ad	bronchial
15	chr2:233661200-233671200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:233661400-233671200	Weak transcription	Right Ventricle	heart
17	chr2:233661800-233670800	Weak transcription	Colonic Mucosa	Colon
18	chr2:233661800-233671000	Weak transcription	NHEK	skin
19	chr2:233661800-233671200	Weak transcription	Aorta	Aorta
20	chr2:233661800-233671200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr2:233662200-233670800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:233662200-233671200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:233662200-233671200	Weak transcription	HSMMtube	muscle
24	chr2:233662200-233671200	Weak transcription	NH-A	brain
25	chr2:233662200-233671400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr2:233662200-233671400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:233662400-233671200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr2:233662400-233671200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr2:233662400-233671200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr2:233662400-233671200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr2:233662400-233672400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr2:233662400-233672600	Weak transcription	K562	blood
33	chr2:233662600-233671200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:233662600-233679800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:233662800-233670800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:233663000-233671000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr2:233663200-233671200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr2:233663400-233670800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr2:233663400-233671200	Weak transcription	Brain Hippocampus Middle	brain
40	chr2:233663400-233671200	Weak transcription	Colon Smooth Muscle	Colon
41	chr2:233664600-233671200	Weak transcription	Adipose Nuclei	Adipose
42	chr2:233665000-233672200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr2:233665000-233692600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:233665200-233671400	Weak transcription	HMEC	breast
45	chr2:233665200-233671400	Weak transcription	HUVEC	blood vessel
46	chr2:233665400-233685800	Strong transcription	Fetal Lung	lung
47	chr2:233665800-233671200	Weak transcription	Lung	lung
48	chr2:233665800-233671200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr2:233665800-233734200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr2:233666200-233671200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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