Variant report

Variant	rs323563
Chromosome Location	chr5:40851788-40851789
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:40832678..40834651-chr5:40851287..40853714,2	K562	blood:
2	chr5:40798425..40801370-chr5:40851510..40853477,2	K562	blood:
3	chr5:40835369..40837107-chr5:40851316..40853439,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212296	Chromatin interaction
ENSG00000132356	Chromatin interaction
ENSG00000145592	Chromatin interaction

Extended variants
information (count: 140 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:138)

rs_ID	r²[population]
rs10035225	0.83[EUR][1000 genomes]
rs10035592	0.82[EUR][1000 genomes]
rs10035621	0.92[EUR][1000 genomes]
rs10041257	0.92[EUR][1000 genomes]
rs10041319	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10046046	0.83[ASN][1000 genomes]
rs10051758	0.87[EUR][1000 genomes]
rs10051888	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10054615	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10054948	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10056708	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10058274	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10059679	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10060965	0.82[EUR][1000 genomes]
rs10063892	0.92[EUR][1000 genomes]
rs10066847	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10072128	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10073246	0.85[EUR][1000 genomes]
rs10076486	0.82[EUR][1000 genomes]
rs10076663	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10077786	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10078706	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10079875	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10080165	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10472342	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10472344	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10473219	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10473220	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10473221	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10473227	0.80[EUR][1000 genomes]
rs10473228	0.82[EUR][1000 genomes]
rs10512750	0.82[EUR][1000 genomes]
rs10941526	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10941527	0.82[EUR][1000 genomes]
rs1120308	0.82[EUR][1000 genomes]
rs11739731	0.82[EUR][1000 genomes]
rs11741315	0.82[EUR][1000 genomes]
rs11746650	0.92[EUR][1000 genomes]
rs11748194	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12109051	0.82[EUR][1000 genomes]
rs12657195	0.82[EUR][1000 genomes]
rs12658133	0.82[EUR][1000 genomes]
rs12659571	0.84[EUR][1000 genomes]
rs13353861	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13353862	0.85[ASN][1000 genomes]
rs13353865	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13354307	0.83[ASN][1000 genomes]
rs13354561	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13355045	0.83[ASN][1000 genomes]
rs13360188	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1393155	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1393156	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1615402	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1645519	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16870407	0.85[ASN][1000 genomes]
rs16870425	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16870434	0.83[ASN][1000 genomes]
rs16870491	0.85[EUR][1000 genomes]
rs1697939	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1697940	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1697941	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1697942	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1827363	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1827366	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1827367	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs188932	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2081153	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs225749	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2329430	0.82[EUR][1000 genomes]
rs2432155	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2455303	0.80[EUR][1000 genomes]
rs2455307	0.82[EUR][1000 genomes]
rs2455308	0.82[EUR][1000 genomes]
rs2876848	0.80[EUR][1000 genomes]
rs28770573	0.82[EUR][1000 genomes]
rs28831497	0.82[EUR][1000 genomes]
rs28834109	0.81[EUR][1000 genomes]
rs28860325	0.82[EUR][1000 genomes]
rs28870511	0.82[EUR][1000 genomes]
rs323555	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs323557	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs323558	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs323559	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs323564	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs323566	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34888872	0.82[EUR][1000 genomes]
rs369331	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs373411	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3792640	0.82[EUR][1000 genomes]
rs3792641	0.82[EUR][1000 genomes]
rs4277953	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4277954	0.82[EUR][1000 genomes]
rs439322	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4461680	0.82[EUR][1000 genomes]
rs446920	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4559041	0.82[EUR][1000 genomes]
rs567165	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs619491	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62357063	0.80[EUR][1000 genomes]
rs62357601	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62357603	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62357605	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62357612	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62357636	0.92[EUR][1000 genomes]
rs62357641	0.90[EUR][1000 genomes]
rs62358575	0.85[EUR][1000 genomes]
rs62358580	0.80[EUR][1000 genomes]
rs72748000	0.84[ASN][1000 genomes]
rs72749504	0.83[ASN][1000 genomes]
rs72749508	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72749514	0.90[EUR][1000 genomes]
rs72749521	0.85[EUR][1000 genomes]
rs7445411	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7701643	0.80[EUR][1000 genomes]
rs7701662	0.82[EUR][1000 genomes]
rs7701871	0.82[EUR][1000 genomes]
rs7704691	0.82[EUR][1000 genomes]
rs7706776	0.82[EUR][1000 genomes]
rs7711745	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7716062	0.80[EUR][1000 genomes]
rs7717388	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7717391	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7717457	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7717794	0.82[EUR][1000 genomes]
rs7721703	0.82[EUR][1000 genomes]
rs7724262	0.82[EUR][1000 genomes]
rs7731772	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7731944	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7733440	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs837387	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9292788	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9292790	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9292793	0.83[EUR][1000 genomes]
rs9292795	0.82[EUR][1000 genomes]
rs9292798	0.80[EUR][1000 genomes]
rs972007	0.85[EUR][1000 genomes]
rs972008	0.85[EUR][1000 genomes]
rs9885543	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880438	chr5:40753877-40900717	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
2	nsv820142	chr5:40847391-40852348	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40836000-40852600	Weak transcription	Small Intestine	intestine
2	chr5:40841400-40852000	Weak transcription	Pancreas	Pancrea
3	chr5:40841800-40852400	Weak transcription	Esophagus	oesophagus
4	chr5:40842200-40852200	Weak transcription	Left Ventricle	heart
5	chr5:40842200-40852600	Weak transcription	Placenta	Placenta
6	chr5:40842200-40853800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:40842400-40852000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr5:40842400-40852400	Weak transcription	Liver	Liver
9	chr5:40842400-40852400	Weak transcription	Ovary	ovary
10	chr5:40842400-40852600	Weak transcription	Primary T cells from cord blood	blood
11	chr5:40842400-40853400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:40842400-40853800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:40842400-40854200	Weak transcription	Fetal Stomach	stomach
14	chr5:40842400-40854600	Weak transcription	Brain Hippocampus Middle	brain
15	chr5:40842800-40852000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr5:40842800-40853200	Weak transcription	Fetal Intestine Small	intestine
17	chr5:40842800-40854000	Weak transcription	Aorta	Aorta
18	chr5:40842800-40856000	Weak transcription	Right Ventricle	heart
19	chr5:40843200-40852200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr5:40843400-40851800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:40843400-40852400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:40843600-40854000	Weak transcription	Colon Smooth Muscle	Colon
23	chr5:40843600-40857800	Weak transcription	Osteobl	bone
24	chr5:40843800-40852000	Weak transcription	Adipose Nuclei	Adipose
25	chr5:40843800-40852000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr5:40844000-40852200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:40844000-40852400	Weak transcription	Hela-S3	cervix
28	chr5:40845400-40852400	Weak transcription	Gastric	stomach
29	chr5:40846800-40851800	Weak transcription	Lung	lung
30	chr5:40846800-40852000	Weak transcription	Spleen	Spleen
31	chr5:40846800-40852400	Weak transcription	HUVEC	blood vessel
32	chr5:40849800-40852000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:40849800-40852400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr5:40849800-40854800	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr5:40849800-40856000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr5:40849800-40857400	Weak transcription	Primary B cells from cord blood	blood
37	chr5:40850000-40852000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:40850200-40854000	Weak transcription	Primary B cells from peripheral blood	blood
39	chr5:40850400-40852000	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr5:40851200-40855400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:40851400-40851800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:40851400-40853400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr5:40851400-40854400	Weak transcription	HSMMtube	muscle
44	chr5:40851400-40855000	Strong transcription	Primary monocytes fromperipheralblood	blood

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