Variant report

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10188156	0.97[ASN][1000 genomes]
rs10189330	0.86[CEU][hapmap]
rs12712033	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12712034	0.86[CHB][hapmap]
rs12712035	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12712036	0.82[CHB][hapmap]
rs12999225	0.80[EUR][1000 genomes]
rs13389386	0.85[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes]
rs1356424	0.85[JPT][hapmap]
rs1983352	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2276604	0.85[JPT][hapmap]
rs2280256	0.81[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs4263159	0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4850888	0.98[ASN][1000 genomes]
rs4851162	0.98[ASN][1000 genomes]
rs4851163	0.98[ASN][1000 genomes]
rs6542838	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6542839	0.82[CHB][hapmap]
rs6713991	0.86[CHB][hapmap];0.97[ASN][1000 genomes]
rs6719634	0.82[CHB][hapmap]
rs7579189	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7581128	0.81[JPT][hapmap]
rs7608889	0.85[JPT][hapmap]
rs981601	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs981602	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[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	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv582517	chr2:99440917-99487972	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Bipolar disorder	19416921	GWAS catalog

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99450000-99468400	Weak transcription	Fetal Intestine Small	intestine
2	chr2:99453200-99473200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:99456200-99473000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:99463400-99465600	Weak transcription	Pancreas	Pancrea
5	chr2:99463400-99485400	Weak transcription	Gastric	stomach
6	chr2:99465400-99466400	Enhancers	HepG2	liver

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