Variant report

Variant	rs13028692
Chromosome Location	chr2:178865811-178865812
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr2:178865680-178866324	SH-SY5Y	brain:	n/a	n/a

Variant related genes	Relation type
API5P2	TF binding region

Extended variants
information (count: 175 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:170)

rs_ID	r²[population]
rs10164920	0.88[CEU][hapmap]
rs10165089	0.85[CEU][hapmap]
rs10168170	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10168605	0.88[CEU][hapmap]
rs10170290	0.88[CEU][hapmap]
rs10170607	0.87[CEU][hapmap]
rs10171247	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10171486	0.88[CEU][hapmap]
rs10174066	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10174604	0.88[CEU][hapmap]
rs10180052	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10181377	0.88[CEU][hapmap]
rs10183144	0.88[CEU][hapmap]
rs10186239	0.87[CEU][hapmap]
rs10186953	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10189134	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10190066	0.88[CEU][hapmap]
rs10190805	0.88[CEU][hapmap]
rs10191328	0.88[CEU][hapmap]
rs10193299	0.87[CEU][hapmap]
rs10194612	0.88[CEU][hapmap]
rs10197020	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10197329	1.00[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10198681	0.88[CEU][hapmap]
rs10198877	0.87[CEU][hapmap]
rs10200643	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10202989	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10207459	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10208501	0.87[CEU][hapmap]
rs10211057	1.00[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10211341	1.00[CEU][hapmap]
rs10221783	0.86[CEU][hapmap]
rs10221806	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497477	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497478	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497481	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10497483	0.88[CEU][hapmap]
rs10930817	0.88[CEU][hapmap]
rs10930819	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12151755	0.88[CEU][hapmap]
rs12693123	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12693127	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693128	1.00[CEU][hapmap]
rs12693133	0.88[CEU][hapmap]
rs12693147	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12693151	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12989778	1.00[AFR][1000 genomes]
rs12993389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12994913	0.86[CEU][hapmap]
rs12995449	0.88[CEU][hapmap]
rs13002398	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13003047	1.00[ASN][1000 genomes]
rs13006098	1.00[CHB][hapmap]
rs13008170	0.88[CEU][hapmap]
rs13008780	0.88[CEU][hapmap]
rs13009350	0.88[CEU][hapmap]
rs13010993	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13013319	1.00[ASN][1000 genomes]
rs13015148	1.00[CEU][hapmap]
rs13017026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13017462	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13017473	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13019623	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13021204	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13022267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13023049	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13023495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13023939	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13026481	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13027582	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13034432	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13386418	0.88[CEU][hapmap]
rs13386639	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs13388218	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13389574	1.00[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13392577	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13393722	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13395159	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13400109	0.88[CEU][hapmap]
rs13400411	1.00[CEU][hapmap]
rs13402629	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13402636	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13405585	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13406131	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13408518	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13408911	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13410486	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs13411527	0.88[CEU][hapmap]
rs13411542	0.88[CEU][hapmap]
rs13411922	0.87[CEU][hapmap]
rs13411970	1.00[CEU][hapmap]
rs13413095	0.86[CEU][hapmap]
rs13413731	0.88[CEU][hapmap]
rs13415041	0.96[EUR][1000 genomes]
rs13419437	1.00[CEU][hapmap]
rs13422276	0.88[CEU][hapmap]
rs13422706	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13423344	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13425873	0.88[CEU][hapmap]
rs13426862	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13428032	0.87[CEU][hapmap]
rs13429445	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17329742	0.88[CEU][hapmap]
rs17329956	1.00[CEU][hapmap]
rs17329998	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17330012	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17330172	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17330290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17330381	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17401293	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17401650	0.87[CEU][hapmap]
rs17401671	0.88[CEU][hapmap]
rs17401860	1.00[CEU][hapmap]
rs17401902	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17401916	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17401951	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17402102	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17635803	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17635875	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17635934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17635957	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17687170	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17687217	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2043548	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs2056715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34018298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34081471	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34206020	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34234621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34363929	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34406776	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34434094	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34473720	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34479958	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34510795	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34528505	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34596457	0.90[EUR][1000 genomes]
rs34767203	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34927879	1.00[AFR][1000 genomes]
rs34948302	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35233809	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35286879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35290022	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35454650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35591668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35699369	0.84[EUR][1000 genomes]
rs35757742	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35797524	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35924394	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35952531	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3861373	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs4377360	0.88[CEU][hapmap]
rs4423634	0.88[CEU][hapmap]
rs6726477	0.87[CEU][hapmap]
rs6738614	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71423523	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423534	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423539	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423541	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423545	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71423555	1.00[AFR][1000 genomes]
rs7561059	0.88[CEU][hapmap]
rs7575322	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7600368	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs9288011	0.88[CEU][hapmap]
rs9989802	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178863600-178873400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:178865800-178866000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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