Variant report

Variant	rs62282892
Chromosome Location	chr3:101050091-101050092
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:101048829..101051216-chr3:101404597..101406658,2	K562	blood:

Variant related genes	Relation type
ENSG00000114391	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10451923	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10511189	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1520654	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16843627	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16843634	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16843699	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16843817	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17487	0.82[ASN][1000 genomes]
rs1986294	0.82[ASN][1000 genomes]
rs2271972	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35902489	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3732893	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3773915	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3773917	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3773918	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4260407	0.88[EUR][1000 genomes]
rs4553955	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs482055	0.80[ASN][1000 genomes]
rs489455	0.82[ASN][1000 genomes]
rs501702	0.82[ASN][1000 genomes]
rs513188	0.82[ASN][1000 genomes]
rs517698	0.82[ASN][1000 genomes]
rs545322	0.82[ASN][1000 genomes]
rs546090	0.82[ASN][1000 genomes]
rs554215	0.82[ASN][1000 genomes]
rs563909	0.82[ASN][1000 genomes]
rs570318	0.82[ASN][1000 genomes]
rs573908	0.82[ASN][1000 genomes]
rs575317	0.82[ASN][1000 genomes]
rs62280637	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62280663	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62280664	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62280665	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62280669	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62280670	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62280671	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62280673	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62280674	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62280675	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62280719	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62280720	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62280721	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62280722	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62280725	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62280726	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62280728	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62280731	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62280733	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62280735	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62280737	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62280745	0.89[EUR][1000 genomes]
rs62280747	0.88[EUR][1000 genomes]
rs62282871	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62282873	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62282875	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62282885	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62282886	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62282887	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62282888	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62282889	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62282890	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6441595	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6796058	0.80[AMR][1000 genomes]
rs6798685	0.80[AMR][1000 genomes]
rs72932462	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7611378	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7621506	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7622461	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7632064	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7634592	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9790303	0.89[EUR][1000 genomes];0.82[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	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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101030200-101052800	Weak transcription	Fetal Stomach	stomach
2	chr3:101030400-101062400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:101030800-101065400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr3:101030800-101096400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr3:101032200-101055600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr3:101038600-101101800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:101038800-101089800	Weak transcription	Pancreas	Pancrea
8	chr3:101039800-101106600	Weak transcription	Thymus	Thymus
9	chr3:101040400-101070800	Weak transcription	NHDF-Ad	bronchial
10	chr3:101040600-101086800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr3:101040800-101056000	Weak transcription	Lung	lung
12	chr3:101040800-101076000	Weak transcription	Esophagus	oesophagus
13	chr3:101040800-101090000	Weak transcription	Brain Angular Gyrus	brain
14	chr3:101042000-101069200	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr3:101042200-101070800	Weak transcription	Osteobl	bone
16	chr3:101042800-101061800	Weak transcription	Small Intestine	intestine
17	chr3:101042800-101089600	Weak transcription	NH-A	brain
18	chr3:101043000-101059800	Weak transcription	Fetal Kidney	kidney
19	chr3:101043200-101076000	Weak transcription	Brain Hippocampus Middle	brain
20	chr3:101043200-101105000	Weak transcription	Brain Anterior Caudate	brain
21	chr3:101043800-101051000	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr3:101043800-101052400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr3:101043800-101096600	Weak transcription	Brain Substantia Nigra	brain
24	chr3:101044000-101051000	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr3:101044000-101052600	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr3:101044000-101055400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr3:101044000-101059200	Weak transcription	HSMMtube	muscle
28	chr3:101044000-101063200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:101044200-101050200	Strong transcription	Primary B cells from peripheral blood	blood
30	chr3:101044200-101050400	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr3:101044200-101051000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr3:101044200-101051000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:101044400-101051000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:101044400-101074200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr3:101044400-101103000	Weak transcription	Gastric	stomach
36	chr3:101044600-101076000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr3:101044600-101081800	Weak transcription	Aorta	Aorta
38	chr3:101044800-101050600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr3:101044800-101079800	Weak transcription	Spleen	Spleen
40	chr3:101045000-101056000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:101045400-101052200	Weak transcription	K562	blood
42	chr3:101045800-101110800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr3:101046400-101052000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr3:101046400-101057200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr3:101046400-101065600	Weak transcription	Brain Germinal Matrix	brain
46	chr3:101046400-101074200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr3:101046400-101076200	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr3:101046400-101089000	Weak transcription	Fetal Brain Male	brain
49	chr3:101046600-101052000	Weak transcription	Primary T cells from cord blood	blood
50	chr3:101046800-101054200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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