Variant report

No.	Distal block	Cell Line	Cell type
1	chr13:39463216..39465859-chr13:39480202..39481912,2	MCF-7	breast:
2	chr13:39258901..39259409-chr13:39464106..39464772,2	MCF-7	breast:
3	chr13:39457286..39459504-chr13:39463520..39465415,2	K562	blood:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1333511	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1894102	0.88[CEU][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1894104	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1945500	0.91[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1945501	0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1945504	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1945505	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1945507	0.83[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs1945512	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7324632	0.87[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes]
rs7324658	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9532296	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9548518	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9548519	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9548522	0.91[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs9548526	0.99[ASN][1000 genomes]
rs9548527	0.99[ASN][1000 genomes]
rs9548528	0.99[ASN][1000 genomes]
rs9548529	0.99[ASN][1000 genomes]
rs9548530	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9603459	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9603460	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9603461	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9603463	1.00[CEU][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1008	chr13:39458830-39468613	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39432600-39468600	Weak transcription	Psoas Muscle	Psoas
2	chr13:39451400-39468200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr13:39456400-39465600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr13:39458400-39466200	Weak transcription	Fetal Kidney	kidney
5	chr13:39458400-39469200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr13:39462800-39471800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr13:39463000-39466000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr13:39463000-39476200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:39464200-39466200	Weak transcription	HMEC	breast

Quick Search: