Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50943769..50946768-chr13:50949049..50951856,2	MCF-7	breast:
2	chr13:50531043..50532904-chr13:50944878..50946623,2	K562	blood:

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs149875	0.87[ASN][1000 genomes]
rs1924372	0.96[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1924373	0.98[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs200222	0.87[ASN][1000 genomes]
rs200223	0.87[ASN][1000 genomes]
rs200224	0.87[ASN][1000 genomes]
rs201796	0.82[ASN][1000 genomes]
rs201798	0.82[ASN][1000 genomes]
rs35824953	0.81[ASN][1000 genomes]
rs430269	0.87[ASN][1000 genomes]
rs471315	0.84[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs58633776	0.80[ASN][1000 genomes]
rs719103	0.88[JPT][hapmap]
rs7327154	0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs8000875	0.96[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9562962	0.96[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9562963	0.97[ASN][1000 genomes]
rs9562964	0.89[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs9562965	0.81[ASN][1000 genomes]
rs9562966	0.85[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs9562967	0.85[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs9568396	0.80[AFR][1000 genomes]
rs9568397	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs9568398	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs9568399	0.98[ASN][1000 genomes]
rs9568400	0.91[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9568401	0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9568402	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs9568403	0.85[AFR][1000 genomes]
rs9568404	0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs9568406	0.88[JPT][hapmap]
rs9634832	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]

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	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

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50939800-50953400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:50940200-50952600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr13:50941000-50951200	Weak transcription	HepG2	liver
4	chr13:50941600-50952400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr13:50941800-50950200	Weak transcription	Gastric	stomach
6	chr13:50943000-50953600	Weak transcription	Psoas Muscle	Psoas
7	chr13:50943800-50945800	Enhancers	Primary B cells from peripheral blood	blood
8	chr13:50944200-50945400	Enhancers	GM12878-XiMat	blood
9	chr13:50944600-50945400	Enhancers	Fetal Lung	lung
10	chr13:50944600-50952600	Weak transcription	Fetal Heart	heart
11	chr13:50945200-50945400	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr13:50945200-50946000	Enhancers	NHDF-Ad	bronchial

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