Variant report

Variant	rs62282890
Chromosome Location	chr3:101041420-101041421
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:101041107-101041548	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:101037115..101040053-chr3:101040832..101043761,2	K562	blood:
2	chr3:101040613..101042326-chr3:101043316..101046300,2	MCF-7	breast:
3	chr3:101040780..101043358-chr3:101279256..101281040,2	MCF-7	breast:
4	chr3:101034562..101037047-chr3:101040318..101043205,2	K562	blood:
5	chr3:101040010..101042925-chr3:101044427..101046951,2	K562	blood:

No data

Variant related genes	Relation type
IMPG2	TF binding region
ENSG00000081148	Chromatin interaction
ENSG00000174173	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10451923	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10511189	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1520654	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16843627	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16843634	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16843699	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16843817	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17487	0.92[ASN][1000 genomes]
rs1986294	0.92[ASN][1000 genomes]
rs2271972	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2449822	0.86[ASN][1000 genomes]
rs35902489	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3732893	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3773915	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3773917	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3773918	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4260407	0.89[EUR][1000 genomes]
rs4553955	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs475521	0.89[ASN][1000 genomes]
rs476090	0.86[ASN][1000 genomes]
rs476491	0.89[ASN][1000 genomes]
rs478173	0.85[ASN][1000 genomes]
rs479522	0.86[ASN][1000 genomes]
rs479723	0.86[ASN][1000 genomes]
rs481809	0.86[ASN][1000 genomes]
rs482055	0.90[ASN][1000 genomes]
rs482436	0.86[ASN][1000 genomes]
rs482976	0.85[ASN][1000 genomes]
rs483947	0.89[ASN][1000 genomes]
rs485130	0.86[ASN][1000 genomes]
rs489455	0.92[ASN][1000 genomes]
rs500480	0.89[ASN][1000 genomes]
rs501702	0.92[ASN][1000 genomes]
rs505037	0.89[ASN][1000 genomes]
rs513188	0.92[ASN][1000 genomes]
rs513994	0.86[ASN][1000 genomes]
rs515307	0.86[ASN][1000 genomes]
rs516312	0.86[ASN][1000 genomes]
rs517698	0.92[ASN][1000 genomes]
rs520879	0.89[ASN][1000 genomes]
rs527836	0.86[ASN][1000 genomes]
rs530566	0.89[ASN][1000 genomes]
rs535881	0.86[ASN][1000 genomes]
rs536561	0.86[ASN][1000 genomes]
rs538834	0.86[ASN][1000 genomes]
rs545322	0.92[ASN][1000 genomes]
rs546090	0.92[ASN][1000 genomes]
rs550241	0.89[ASN][1000 genomes]
rs554215	0.92[ASN][1000 genomes]
rs559042	0.89[ASN][1000 genomes]
rs559400	0.81[ASN][1000 genomes]
rs563909	0.92[ASN][1000 genomes]
rs567983	0.86[ASN][1000 genomes]
rs569339	0.89[ASN][1000 genomes]
rs570318	0.92[ASN][1000 genomes]
rs571883	0.89[ASN][1000 genomes]
rs573908	0.92[ASN][1000 genomes]
rs575317	0.92[ASN][1000 genomes]
rs62280633	0.82[AMR][1000 genomes]
rs62280636	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62280637	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62280663	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62280664	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62280665	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62280669	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62280670	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62280671	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62280673	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62280674	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62280675	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62280719	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62280720	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62280721	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62280722	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62280725	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62280726	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62280728	0.90[EUR][1000 genomes]
rs62280731	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62280733	0.90[EUR][1000 genomes]
rs62280735	0.90[EUR][1000 genomes]
rs62280737	0.90[EUR][1000 genomes]
rs62280745	0.90[EUR][1000 genomes]
rs62280747	0.89[EUR][1000 genomes]
rs62282871	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62282873	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62282875	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62282885	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62282886	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62282887	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62282888	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62282889	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62282892	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6441595	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6796058	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6798685	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs693428	0.85[ASN][1000 genomes]
rs72932462	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7611378	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7621506	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7622461	0.90[EUR][1000 genomes]
rs7632064	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7634592	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9790303	0.90[EUR][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	nsv931417	chr3:100547347-101183844	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv3439278	chr3:100936513-101162102	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1003475	chr3:101005238-101120030	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101028000-101044200	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr3:101029400-101044400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr3:101029800-101044600	Weak transcription	Primary T cells from cord blood	blood
4	chr3:101030200-101044200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr3:101030200-101044600	Weak transcription	Fetal Lung	lung
6	chr3:101030200-101045800	Weak transcription	HUVEC	blood vessel
7	chr3:101030200-101052800	Weak transcription	Fetal Stomach	stomach
8	chr3:101030400-101062400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:101030800-101065400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr3:101030800-101096400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr3:101031000-101044200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr3:101031800-101044000	Weak transcription	Primary B cells from cord blood	blood
13	chr3:101032200-101044000	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr3:101032200-101055600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr3:101037000-101043800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr3:101037200-101044800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:101037200-101046000	Weak transcription	Left Ventricle	heart
18	chr3:101037600-101045400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr3:101038600-101101800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr3:101038800-101045400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr3:101038800-101048000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr3:101038800-101089800	Weak transcription	Pancreas	Pancrea
23	chr3:101039400-101042000	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr3:101039400-101048000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr3:101039600-101046400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr3:101039800-101106600	Weak transcription	Thymus	Thymus
27	chr3:101040200-101044400	Weak transcription	Adipose Nuclei	Adipose
28	chr3:101040400-101042400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:101040400-101044400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr3:101040400-101044400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr3:101040400-101045800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:101040400-101046000	Weak transcription	HSMM	muscle
33	chr3:101040400-101048200	Weak transcription	Fetal Muscle Leg	muscle
34	chr3:101040400-101070800	Weak transcription	NHDF-Ad	bronchial
35	chr3:101040600-101044200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr3:101040600-101045800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr3:101040600-101046000	Weak transcription	Fetal Intestine Large	intestine
38	chr3:101040600-101086800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr3:101040800-101043400	Weak transcription	Liver	Liver
40	chr3:101040800-101043800	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr3:101040800-101044000	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr3:101040800-101044400	Weak transcription	Fetal Thymus	thymus
43	chr3:101040800-101044600	Weak transcription	Dnd41	blood
44	chr3:101040800-101045400	Weak transcription	Fetal Brain Female	brain
45	chr3:101040800-101046000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr3:101040800-101056000	Weak transcription	Lung	lung
47	chr3:101040800-101076000	Weak transcription	Esophagus	oesophagus
48	chr3:101040800-101090000	Weak transcription	Brain Angular Gyrus	brain
49	chr3:101041000-101044800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr3:101041400-101044200	Weak transcription	Primary B cells from peripheral blood	blood

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