Variant report

Variant	rs12124690
Chromosome Location	chr1:67021987-67021988
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10443224	0.84[EUR][1000 genomes]
rs10493410	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10889628	0.89[ASN][1000 genomes]
rs11208904	0.86[AMR][1000 genomes]
rs11208905	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11208909	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11208915	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11208920	0.84[ASN][1000 genomes]
rs11208923	0.84[EUR][1000 genomes]
rs11208926	0.83[EUR][1000 genomes]
rs11208931	0.83[EUR][1000 genomes]
rs1159851	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1159852	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11799970	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11806387	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12027701	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12032691	0.84[EUR][1000 genomes]
rs12037314	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12040170	0.83[EUR][1000 genomes]
rs12041078	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12044655	0.84[EUR][1000 genomes]
rs12045543	0.84[EUR][1000 genomes]
rs12048321	0.84[EUR][1000 genomes]
rs12049347	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12116888	0.83[EUR][1000 genomes]
rs12120279	0.83[EUR][1000 genomes]
rs12121959	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12125455	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12126819	0.83[EUR][1000 genomes]
rs12127654	0.83[EUR][1000 genomes]
rs12127884	0.83[EUR][1000 genomes]
rs12128429	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12128496	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12129319	0.84[EUR][1000 genomes]
rs12131306	0.83[EUR][1000 genomes]
rs12131909	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12135689	0.84[EUR][1000 genomes]
rs12139975	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12725322	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12729740	0.84[EUR][1000 genomes]
rs12731043	0.81[EUR][1000 genomes]
rs12731104	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12731112	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12741427	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12750223	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12751879	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1373910	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1900105	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1975523	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2121041	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2218498	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2312154	0.84[ASN][1000 genomes]
rs34007277	0.84[EUR][1000 genomes]
rs35156185	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35902414	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35939197	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4233317	0.84[EUR][1000 genomes]
rs4428858	0.84[EUR][1000 genomes]
rs4462119	0.83[EUR][1000 genomes]
rs4655496	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4655497	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4655499	0.84[EUR][1000 genomes]
rs4655500	0.84[EUR][1000 genomes]
rs4655501	0.84[EUR][1000 genomes]
rs4655502	0.84[EUR][1000 genomes]
rs4655503	0.83[EUR][1000 genomes]
rs4655619	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4655621	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4655622	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4655623	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4655624	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4655625	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4655626	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4655629	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4655637	0.84[EUR][1000 genomes]
rs4655641	0.83[EUR][1000 genomes]
rs4655645	0.83[EUR][1000 genomes]
rs6679568	0.84[ASN][1000 genomes]
rs9787184	0.81[AMR][1000 genomes];0.84[EUR][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	nsv1210	chr1:67017295-67033203	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67000400-67022000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:67000800-67029800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:67001200-67022000	Weak transcription	Right Ventricle	heart
4	chr1:67009800-67028200	Weak transcription	Brain Germinal Matrix	brain
5	chr1:67010000-67029000	Weak transcription	Fetal Kidney	kidney
6	chr1:67011000-67028000	Weak transcription	HUVEC	blood vessel
7	chr1:67011200-67022000	Weak transcription	Pancreas	Pancrea
8	chr1:67011800-67029800	Weak transcription	Fetal Brain Male	brain
9	chr1:67017400-67023800	Enhancers	Fetal Heart	heart
10	chr1:67017800-67022400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:67018000-67023800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:67018200-67023800	Enhancers	Brain Angular Gyrus	brain
13	chr1:67018400-67022000	Weak transcription	NH-A	brain
14	chr1:67018800-67022000	Weak transcription	Aorta	Aorta
15	chr1:67018800-67022000	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:67018800-67022000	Weak transcription	Left Ventricle	heart
17	chr1:67019000-67022000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:67019000-67023600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr1:67019000-67028600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:67019200-67023200	Weak transcription	Fetal Lung	lung
21	chr1:67019800-67024000	Enhancers	NHDF-Ad	bronchial
22	chr1:67020000-67022200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr1:67020200-67022000	Weak transcription	Osteobl	bone
24	chr1:67020200-67028200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:67021000-67024000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr1:67021200-67022200	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr1:67021200-67022400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:67021200-67022600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:67021200-67023400	Enhancers	Brain Substantia Nigra	brain
30	chr1:67021400-67022400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:67021400-67022400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:67021400-67022800	Enhancers	HMEC	breast
33	chr1:67021400-67023400	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr1:67021400-67023800	Enhancers	Brain Hippocampus Middle	brain
35	chr1:67021400-67024000	Enhancers	Brain Cingulate Gyrus	brain
36	chr1:67021600-67022000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:67021600-67023000	Enhancers	NHEK	skin
38	chr1:67021600-67023400	Enhancers	Brain Anterior Caudate	brain
39	chr1:67021800-67022200	Enhancers	H9 Cell Line	embryonic stem cell
40	chr1:67021800-67022200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:67021800-67022400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:67021800-67022400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:67021800-67022400	Enhancers	Fetal Thymus	thymus
44	chr1:67021800-67022400	Genic enhancers	NHLF	lung
45	chr1:67021800-67022600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:67021800-67022800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:67021800-67023400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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