Variant report

Variant	rs1962864
Chromosome Location	chr5:145114743-145114744
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10035959	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10035998	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10038598	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10041421	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1019922	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1019923	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1019925	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1019926	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1025472	0.91[AFR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12518852	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13166750	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1347123	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1347124	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1368340	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1368341	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1368343	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1432753	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1433028	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1529708	0.89[ASN][1000 genomes]
rs1619551	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1626062	0.89[AFR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1626734	0.93[AFR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1654133	0.89[EUR][1000 genomes]
rs1654134	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1654135	0.83[AFR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1654143	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1654144	0.93[AFR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1654145	0.93[AFR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1654146	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1654147	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1654148	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1654150	0.87[AFR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1654230	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1654231	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1654232	0.84[AFR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1654233	0.89[AFR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1654234	0.87[AFR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1654235	0.91[AFR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1654236	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1654237	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1654238	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1654239	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1654240	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1654242	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1654243	0.93[AFR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1835931	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1897540	0.90[ASN][1000 genomes]
rs1962863	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1972777	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1972778	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2014625	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2400196	0.91[AFR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2400197	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2400198	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2400199	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2436416	0.93[AFR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3903516	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4521541	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6580383	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6580384	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6884968	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6896903	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7721955	0.91[AFR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs872565	0.90[ASN][1000 genomes]
rs872566	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs987806	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462474	chr5:145068001-145143775	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv599934	chr5:145068001-145143775	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1021851	chr5:145106686-145187560	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145101600-145117400	Weak transcription	Gastric	stomach
2	chr5:145105400-145179000	Weak transcription	Pancreas	Pancrea
3	chr5:145107000-145114800	Weak transcription	Fetal Stomach	stomach
4	chr5:145107200-145123200	Weak transcription	Aorta	Aorta
5	chr5:145108000-145115000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:145109400-145120600	Weak transcription	Left Ventricle	heart
7	chr5:145109400-145194400	Weak transcription	Colonic Mucosa	Colon
8	chr5:145109600-145116800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:145110400-145143800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr5:145110800-145115800	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr5:145111200-145123000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:145111400-145166800	Weak transcription	K562	blood
13	chr5:145111800-145116200	Weak transcription	Stomach Mucosa	stomach
14	chr5:145112600-145114800	Strong transcription	Fetal Intestine Large	intestine
15	chr5:145113000-145117400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr5:145113600-145115800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:145113600-145140000	Weak transcription	Ovary	ovary
18	chr5:145113800-145118800	Weak transcription	Fetal Intestine Small	intestine
19	chr5:145114000-145117400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:145114000-145163400	Weak transcription	Small Intestine	intestine
21	chr5:145114200-145117800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:145114600-145115200	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr5:145114600-145142400	Weak transcription	Rectal Mucosa Donor 31	rectum

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