Variant report

Variant	rs2812200
Chromosome Location	chr13:50855108-50855109
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	chr13:50854880..50857569-chr13:50892767..50895281,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1326125	0.83[CHD][hapmap];0.85[JPT][hapmap]
rs1359614	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1409279	1.00[CHB][hapmap];0.89[CHD][hapmap];0.86[GIH][hapmap];0.92[JPT][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1409280	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2066677	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2066678	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2066681	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2066683	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2066684	1.00[CHB][hapmap];0.92[JPT][hapmap];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2532969	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs2532970	0.81[ASN][1000 genomes]
rs2580196	0.82[ASN][1000 genomes]
rs2703084	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2703089	0.89[AMR][1000 genomes]
rs2740526	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2740527	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2740534	0.81[ASN][1000 genomes]
rs2740535	0.90[CHD][hapmap];0.82[GIH][hapmap];0.93[JPT][hapmap]
rs2740540	0.83[ASN][1000 genomes]
rs2762053	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2765761	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2812201	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs806323	0.83[ASN][1000 genomes]
rs806324	0.83[ASN][1000 genomes]
rs806325	0.86[ASN][1000 genomes]
rs806326	0.86[ASN][1000 genomes]
rs806327	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs806330	0.86[ASN][1000 genomes]
rs806332	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs806335	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs806336	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs806338	0.81[ASN][1000 genomes]
rs806341	0.89[ASN][1000 genomes]
rs806344	0.82[ASN][1000 genomes]
rs806352	1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832608	chr13:50678628-50888413	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv900076	chr13:50710579-50912578	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2812200	EBPL	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50851800-50856400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:50852200-50856000	Weak transcription	HepG2	liver
3	chr13:50853200-50855200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr13:50854000-50856200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr13:50854000-50856400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr13:50854000-50856400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr13:50854200-50856000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr13:50854400-50856400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr13:50854400-50856400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr13:50854800-50855800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr13:50854800-50856000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr13:50855000-50855400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr13:50855000-50856000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr13:50855000-50860200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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