Variant report

Variant	rs56059241
Chromosome Location	chr3:17732173-17732174
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:17726957..17730197-chr3:17731343..17734171,3	K562	blood:
2	chr3:17726443..17728457-chr3:17731343..17734227,2	K562	blood:
3	chr3:17731991..17733864-chr3:17783866..17786187,2	K562	blood:
4	chr3:17472510..17474069-chr3:17729758..17732549,2	K562	blood:

Variant related genes	Relation type
ENSG00000131374	Chromatin interaction

Extended variants
information (count: 179 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:171)

rs_ID	r²[population]
rs10433560	0.83[EUR][1000 genomes]
rs10433561	0.87[EUR][1000 genomes]
rs10510477	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10510478	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11128836	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11128837	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11128838	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11128840	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11128841	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11128842	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11128843	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11128844	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11128848	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11128849	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11128850	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11128852	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11708672	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11719266	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11719326	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11927637	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11927654	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11929111	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12487248	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12487916	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12488591	0.84[EUR][1000 genomes]
rs12490933	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12497320	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12631291	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12632570	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12634674	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12634893	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13061771	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13065637	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13069155	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13071728	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13071934	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13076724	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13079096	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13083917	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13085167	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13096559	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13097908	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13320647	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34002492	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34297417	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34485427	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34487714	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34786175	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34990533	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35460334	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35642812	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35697509	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs36172181	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4128509	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4243835	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4243836	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4243837	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4243838	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4312680	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4349529	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4377510	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4408889	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4431138	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4435673	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4435674	0.84[EUR][1000 genomes]
rs4444738	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4470554	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4482690	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4484221	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4488868	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4513482	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4566567	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4566568	0.84[EUR][1000 genomes]
rs4568172	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4589965	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4602424	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4611850	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4637311	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4643736	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4908938	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4908939	0.82[EUR][1000 genomes]
rs4908940	0.84[EUR][1000 genomes]
rs4908958	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4908963	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4908964	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4908965	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4908966	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4908967	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4908968	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4908969	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4908970	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4908971	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4908972	0.83[EUR][1000 genomes]
rs4908973	0.84[EUR][1000 genomes]
rs4908987	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4908992	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4909009	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4909010	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4909012	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5014632	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55701200	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57309958	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61081795	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61236237	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6577616	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6577617	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6577618	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6577619	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6577622	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6577643	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6577644	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6768637	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6779834	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6780587	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6784025	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6789467	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6789697	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6792422	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6795189	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6796448	0.84[EUR][1000 genomes]
rs6797952	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6803312	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6804837	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6806610	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6807020	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6809062	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6810235	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7431897	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7613953	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7617683	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7622878	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7627064	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7627732	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7630695	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7632240	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7633601	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7645459	0.85[EUR][1000 genomes]
rs7647914	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7647928	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7650617	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7651998	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7652156	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8179891	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8179983	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9310524	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9310526	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9310528	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9681232	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9681617	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9681644	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9681893	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9756494	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9757339	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9815204	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9816920	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9821318	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9821955	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9823767	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9835988	0.81[EUR][1000 genomes]
rs9839588	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9847461	0.82[EUR][1000 genomes]
rs9847477	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9853571	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9857910	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9860854	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9867064	0.84[EUR][1000 genomes]
rs9875973	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9878954	0.81[EUR][1000 genomes]
rs9880456	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9880971	0.85[EUR][1000 genomes]
rs9881089	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013069	chr3:17560456-17783372	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv1849856	chr3:17646794-17748688	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv1828838	chr3:17646794-17757960	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv999594	chr3:17690416-17982318	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv2583047	chr3:17730772-17732367	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv6157	chr3:17731444-17732222	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv2211188	chr3:17731504-17732210	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3461531	chr3:17731620-17732205	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:17707000-17734800	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr3:17711400-17755000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr3:17712600-17732600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr3:17720000-17747400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:17720200-17734200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr3:17720600-17734400	Weak transcription	Dnd41	blood
7	chr3:17723400-17735200	Weak transcription	Gastric	stomach
8	chr3:17723600-17734400	Weak transcription	Primary B cells from cord blood	blood
9	chr3:17723600-17736000	Weak transcription	Pancreas	Pancrea
10	chr3:17723600-17736800	Weak transcription	Ovary	ovary
11	chr3:17724600-17734800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:17725800-17734400	Weak transcription	A549	lung
13	chr3:17726600-17734200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:17726800-17742200	Weak transcription	Stomach Mucosa	stomach
15	chr3:17729400-17734200	Weak transcription	K562	blood
16	chr3:17730400-17734400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:17730400-17734600	Weak transcription	Spleen	Spleen
18	chr3:17731600-17734200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:17731600-17755600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr3:17731800-17734400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr3:17732000-17732400	Enhancers	Psoas Muscle	Psoas

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