Variant report

Variant	rs2147392
Chromosome Location	chr1:84404154-84404155
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 113 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10127737	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10465746	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10493741	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10493744	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10874423	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10874424	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10874426	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11163861	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11163862	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11163865	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11163866	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11163867	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11163868	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11163872	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11163874	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11163875	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11163876	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11163877	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11163878	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11163879	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11163884	0.90[ASN][1000 genomes]
rs11163885	0.90[ASN][1000 genomes]
rs11163886	0.90[ASN][1000 genomes]
rs11163887	0.90[ASN][1000 genomes]
rs11807807	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12070578	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12121175	0.91[ASN][1000 genomes]
rs12127266	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12133778	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12135028	0.89[ASN][1000 genomes]
rs12139191	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12140068	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12141272	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12145258	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12145516	0.90[ASN][1000 genomes]
rs12146038	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12184292	0.83[ASN][1000 genomes]
rs12401314	0.89[ASN][1000 genomes]
rs12402130	0.90[ASN][1000 genomes]
rs12403631	0.88[ASN][1000 genomes]
rs12406984	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12407641	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12410398	0.89[ASN][1000 genomes]
rs12410617	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12723239	0.90[ASN][1000 genomes]
rs12730621	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12732697	0.83[ASN][1000 genomes]
rs12738214	0.85[ASN][1000 genomes]
rs12748268	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12749350	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12757632	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12758441	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12759527	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1324484	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1324486	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1359331	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1536165	0.84[ASN][1000 genomes]
rs1536166	0.89[ASN][1000 genomes]
rs1570690	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1570691	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17099118	0.88[ASN][1000 genomes]
rs17475760	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17534614	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1871924	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1871925	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1886769	0.91[ASN][1000 genomes]
rs1886770	0.90[ASN][1000 genomes]
rs1925710	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1952065	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1952066	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2147950	0.91[ASN][1000 genomes]
rs2224990	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2389616	0.89[ASN][1000 genomes]
rs2389647	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2389648	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2389649	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28445286	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28567085	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28726372	0.81[ASN][1000 genomes]
rs34155960	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34274953	0.83[ASN][1000 genomes]
rs34636124	0.86[ASN][1000 genomes]
rs35485748	0.90[ASN][1000 genomes]
rs35946036	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35969331	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4258241	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4907186	0.80[EUR][1000 genomes]
rs4907188	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4907189	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4907190	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4907191	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6658559	0.91[ASN][1000 genomes]
rs6663949	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6667468	0.88[ASN][1000 genomes]
rs6670658	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6685344	0.87[ASN][1000 genomes]
rs6687372	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6694752	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6699501	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6703382	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6703493	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7529293	0.84[EUR][1000 genomes]
rs7531537	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7550413	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7551787	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs882897	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs936661	0.83[ASN][1000 genomes]
rs942848	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs942849	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9660265	0.90[ASN][1000 genomes]
rs980417	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs980418	0.92[EUR][1000 genomes];0.89[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	nsv871551	chr1:84354464-84453223	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84368400-84416600	Weak transcription	NHLF	lung
2	chr1:84368400-84428400	Weak transcription	Pancreas	Pancrea
3	chr1:84376800-84405000	Weak transcription	Left Ventricle	heart
4	chr1:84382600-84409800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:84383200-84408600	Weak transcription	Adipose Nuclei	Adipose
6	chr1:84384800-84406600	Weak transcription	Aorta	Aorta
7	chr1:84385200-84408600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:84387000-84408400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:84387000-84408400	Weak transcription	Fetal Muscle Leg	muscle
10	chr1:84387000-84410000	Weak transcription	Brain Germinal Matrix	brain
11	chr1:84392200-84422400	Weak transcription	Fetal Stomach	stomach
12	chr1:84392400-84420400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:84393400-84406000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:84394000-84408600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr1:84399200-84429800	Weak transcription	HSMMtube	muscle
16	chr1:84399800-84404800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:84400200-84408400	Weak transcription	Brain Anterior Caudate	brain
18	chr1:84400600-84404200	Weak transcription	Brain Angular Gyrus	brain
19	chr1:84401000-84405000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr1:84402200-84404400	Strong transcription	HSMM	muscle
21	chr1:84402800-84406800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr1:84403600-84404200	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr1:84403600-84404400	Enhancers	Brain Hippocampus Middle	brain
24	chr1:84403600-84405200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:84403600-84408600	Weak transcription	NHDF-Ad	bronchial
26	chr1:84403600-84426200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr1:84403600-84427400	Weak transcription	Fetal Brain Female	brain
28	chr1:84403800-84405400	Weak transcription	Fetal Brain Male	brain
29	chr1:84403800-84408800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:84404000-84404400	Enhancers	Brain Substantia Nigra	brain

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