Variant report

Variant	rs12048861
Chromosome Location	chr1:220947119-220947120
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 151 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:150)

rs_ID	r²[population]
rs10863563	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10863565	0.82[JPT][hapmap]
rs11118602	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118603	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118604	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs1113125	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11557506	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12021979	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12023067	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12023202	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12023249	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12023303	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12023484	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12024252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12026135	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs12026176	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12026612	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12026813	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12026877	0.89[ASN][1000 genomes]
rs12027068	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12027298	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs12027302	1.00[EUR][1000 genomes]
rs12027337	1.00[EUR][1000 genomes]
rs12027930	0.89[ASN][1000 genomes]
rs12028584	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12028887	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12029761	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12029763	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12029901	1.00[JPT][hapmap]
rs12030190	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12030249	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12030434	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12030456	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12031217	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12031225	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12031479	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12031951	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12032061	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12032336	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12033121	0.95[ASN][1000 genomes]
rs12033644	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12033645	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12033732	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12033808	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs12034685	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12034691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12034995	1.00[JPT][hapmap]
rs12035639	0.88[CHB][hapmap]
rs12038224	0.86[CHB][hapmap];0.89[ASN][1000 genomes]
rs12039043	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12039064	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12039091	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12039436	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12041919	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12041923	0.86[CHB][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12041952	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12041956	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12042585	0.82[JPT][hapmap]
rs12043169	0.81[ASN][1000 genomes]
rs12043238	1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12043252	0.95[ASN][1000 genomes]
rs12044903	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs12045050	1.00[EUR][1000 genomes]
rs12046425	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12046511	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12046515	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12047809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12047899	0.82[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12048193	1.00[EUR][1000 genomes]
rs12048740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12049111	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1389745	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1389746	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1389747	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008639	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008644	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17008646	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17008649	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008667	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008670	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008680	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs182872	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs1874115	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1874116	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1874117	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1874118	0.89[ASN][1000 genomes]
rs1874123	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs1982894	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1982895	0.85[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067632	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067633	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2270535	1.00[JPT][hapmap]
rs2275574	0.82[JPT][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2642446	0.82[JPT][hapmap]
rs28525291	0.95[ASN][1000 genomes]
rs337137	1.00[EUR][1000 genomes]
rs337140	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs337141	1.00[EUR][1000 genomes]
rs337144	1.00[EUR][1000 genomes]
rs35297838	0.82[JPT][hapmap]
rs371348	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs3767324	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3795535	0.82[JPT][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3806326	0.95[ASN][1000 genomes]
rs3806328	0.95[ASN][1000 genomes]
rs3820350	0.82[JPT][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3820353	0.82[JPT][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3820357	0.95[ASN][1000 genomes]
rs3902885	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4124596	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs419746	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4480363	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs449699	1.00[EUR][1000 genomes]
rs453079	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs57187572	0.89[ASN][1000 genomes]
rs58744613	0.89[ASN][1000 genomes]
rs58774365	0.89[ASN][1000 genomes]
rs60326124	0.89[ASN][1000 genomes]
rs6671579	1.00[JPT][hapmap]
rs6687366	1.00[JPT][hapmap]
rs67065803	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67358577	0.97[ASN][1000 genomes]
rs67889619	1.00[EUR][1000 genomes]
rs72470443	0.95[ASN][1000 genomes]
rs72470444	0.95[ASN][1000 genomes]
rs72470571	0.95[ASN][1000 genomes]
rs72470575	0.95[ASN][1000 genomes]
rs72470581	0.95[ASN][1000 genomes]
rs72470584	0.95[ASN][1000 genomes]
rs72470587	0.89[ASN][1000 genomes]
rs72472377	1.00[EUR][1000 genomes]
rs72472379	1.00[EUR][1000 genomes]
rs72472380	1.00[EUR][1000 genomes]
rs72472383	1.00[EUR][1000 genomes]
rs72472384	1.00[EUR][1000 genomes]
rs72472389	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72472390	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72472391	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72472392	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72472394	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72472398	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72473905	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72473913	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs746767	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs953970	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9970128	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9970130	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9970393	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9970394	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9970623	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523389	chr1:220926844-220956012	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220922800-220959600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:220922800-220959600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:220923200-220948000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:220925000-220959400	Weak transcription	Brain Angular Gyrus	brain
5	chr1:220925400-220950200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:220930000-220950000	Weak transcription	Fetal Brain Male	brain
7	chr1:220930000-220950200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:220930000-220950400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:220930000-220959600	Weak transcription	Psoas Muscle	Psoas
10	chr1:220930200-220950000	Weak transcription	Brain Anterior Caudate	brain
11	chr1:220930400-220950000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:220930400-220959600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:220930600-220950000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:220931200-220959000	Weak transcription	Brain Substantia Nigra	brain
15	chr1:220936200-220959600	Weak transcription	A549	lung
16	chr1:220936600-220958200	Weak transcription	Esophagus	oesophagus
17	chr1:220939000-220960400	Weak transcription	Small Intestine	intestine
18	chr1:220941200-220949800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:220941400-220948400	Strong transcription	Fetal Muscle Leg	muscle
20	chr1:220942200-220948200	Strong transcription	Fetal Stomach	stomach
21	chr1:220942400-220950200	Weak transcription	Right Atrium	heart
22	chr1:220942400-220950200	Weak transcription	Stomach Mucosa	stomach
23	chr1:220942800-220948200	Strong transcription	Fetal Intestine Small	intestine
24	chr1:220942800-220948800	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr1:220943000-220958400	Weak transcription	HepG2	liver
26	chr1:220943000-220959000	Strong transcription	Fetal Intestine Large	intestine
27	chr1:220944000-220947800	Weak transcription	Fetal Heart	heart
28	chr1:220944200-220948400	Strong transcription	Left Ventricle	heart
29	chr1:220944200-220948800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr1:220944200-220950000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:220944200-220950000	Weak transcription	Hela-S3	cervix
32	chr1:220944200-220950200	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr1:220944200-220956000	Weak transcription	Pancreas	Pancrea
34	chr1:220944200-220959200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:220944200-220959400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:220944200-220959400	Weak transcription	Fetal Kidney	kidney
37	chr1:220944200-220959600	Weak transcription	NHLF	lung
38	chr1:220944200-220959800	Weak transcription	Gastric	stomach
39	chr1:220944400-220947400	Strong transcription	Liver	Liver
40	chr1:220944400-220947400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr1:220944400-220950200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:220944400-220954600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:220944400-220956000	Weak transcription	Aorta	Aorta
44	chr1:220944400-220956800	Weak transcription	Spleen	Spleen
45	chr1:220944400-220958800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr1:220944400-220959000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr1:220944400-220959200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr1:220944400-220959400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:220944400-220959400	Weak transcription	Colonic Mucosa	Colon
50	chr1:220944400-220959400	Weak transcription	Right Ventricle	heart

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