Variant report

Variant	rs34948302
Chromosome Location	chr2:178853174-178853175
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178852131..178854988-chr2:178855154..178857922,2	K562	blood:

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10168170	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10171247	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10174337	0.80[AFR][1000 genomes]
rs10186953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10189134	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10197329	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10200643	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10207459	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10211057	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10221806	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693123	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12693127	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12993389	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13002398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13003047	1.00[ASN][1000 genomes]
rs13010993	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13013319	1.00[ASN][1000 genomes]
rs13017026	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13017462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13017473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13019623	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13021204	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13022267	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13023049	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13023495	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13023939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13026481	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13027582	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13028692	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13034432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13383696	0.85[AFR][1000 genomes]
rs13388218	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13388890	0.80[AFR][1000 genomes]
rs13389574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13391481	0.85[AFR][1000 genomes]
rs13392577	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13393722	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13395159	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13397357	0.80[AFR][1000 genomes]
rs13402629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13402636	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13405581	0.85[AFR][1000 genomes]
rs13405585	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13406131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13408518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13408911	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13415041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13419927	0.85[AFR][1000 genomes]
rs13422706	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13423344	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13426862	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13429445	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17330012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17330172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17330290	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17330381	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17401293	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17401951	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17402102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17635803	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17635875	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17635934	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17635957	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17687170	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17687217	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2056715	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28621588	0.85[AFR][1000 genomes]
rs34018298	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34081471	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34206020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34234621	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34363929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34406776	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34434094	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34473720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34479958	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34510795	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34528505	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34596457	0.94[EUR][1000 genomes]
rs34767203	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35233809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35286879	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35290022	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35454650	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35591668	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35699369	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs35757742	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35797524	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35924394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35952531	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6738614	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71423523	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423534	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423535	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423537	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423538	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423539	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423540	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423541	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423545	1.00[ASN][1000 genomes]
rs7575322	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9989802	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533377	chr2:178718801-178963463	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1007579	chr2:178729330-178890946	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv875451	chr2:178748294-178953409	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv998304	chr2:178756380-178924378	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv536056	chr2:178756380-178924378	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv583712	chr2:178843950-178857169	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv521228	chr2:178845469-178856900	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv583718	chr2:178845469-178857169	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv583731	chr2:178845755-178857169	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv583736	chr2:178851177-178857169	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178850000-178853200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:178850000-178854000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:178850000-178854200	Weak transcription	Fetal Intestine Large	intestine
4	chr2:178853000-178854600	Enhancers	A549	lung

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