Variant report

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:38846655-38847697	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr19:38846760-38847715	H1-neurons	neurons:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:38839098..38841898-chr19:38845182..38848381,4	K562	blood:
2	chr19:38841295..38843192-chr19:38844976..38847519,3	MCF-7	breast:
3	chr19:38841112..38844094-chr19:38846252..38847935,2	K562	blood:
4	chr19:38754638..38757449-chr19:38846372..38848409,3	MCF-7	breast:
5	chr19:38838273..38840146-chr19:38846615..38848893,2	MCF-7	breast:
6	chr19:38846299..38848988-chr19:38850348..38854198,4	MCF-7	breast:

No data

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11671779	0.84[CEU][hapmap]
rs11673012	0.84[CEU][hapmap]
rs11673222	0.84[CEU][hapmap]
rs11881305	0.93[GIH][hapmap];0.95[TSI][hapmap]
rs12609247	0.83[GIH][hapmap];0.89[EUR][1000 genomes]
rs12611255	0.84[EUR][1000 genomes]
rs2270094	0.84[CEU][hapmap]
rs2270095	1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs2286476	1.00[CEU][hapmap];0.93[GIH][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs2304176	0.92[ASW][hapmap];1.00[CEU][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3178327	0.95[GIH][hapmap];0.95[TSI][hapmap]
rs3745951	0.84[CEU][hapmap]
rs3815345	0.90[EUR][1000 genomes]
rs3843754	0.93[GIH][hapmap];0.95[TSI][hapmap]
rs4312417	0.89[GIH][hapmap];0.95[TSI][hapmap]
rs4386247	0.84[CEU][hapmap]
rs4802324	0.87[TSI][hapmap]
rs4804046	0.84[CEU][hapmap]
rs56849284	0.91[EUR][1000 genomes]
rs57618695	0.87[EUR][1000 genomes]
rs58728151	0.96[EUR][1000 genomes]
rs59898212	0.84[EUR][1000 genomes]
rs60071299	0.96[EUR][1000 genomes]
rs61160177	0.87[EUR][1000 genomes]
rs6508781	0.82[ASW][hapmap]
rs7252835	0.92[EUR][1000 genomes]
rs7253960	0.87[EUR][1000 genomes]
rs73043010	0.89[EUR][1000 genomes]
rs73043037	0.90[EUR][1000 genomes]
rs8106895	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8106900	0.88[CEU][hapmap]
rs8112211	1.00[CEU][hapmap];0.93[GIH][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs931749	0.84[CEU][hapmap]
rs931750	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv470140	chr19:38840139-39119494	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2286475	C19orf33	cis	Heart Left Ventricle	GTEx
rs2286475	SELV	cis	parietal	SCAN
rs2286475	C19orf33	cis	normal skin	skin_eQTL
rs2286475	APOC4	cis	cerebellum	SCAN
rs2286475	LOC390940	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38828200-38852000	Weak transcription	Right Atrium	heart
2	chr19:38835200-38852000	Weak transcription	Pancreas	Pancrea
3	chr19:38843000-38850400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:38847000-38847600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
5	chr19:38847200-38847600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
6	chr19:38847400-38847600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
7	chr19:38847400-38847600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin

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