Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:89017125..89019742-chr8:89023197..89026619,3	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10088179	0.80[ASN][1000 genomes]
rs1031826	0.94[ASN][1000 genomes]
rs1477905	0.87[ASN][1000 genomes]
rs16875013	0.83[CHD][hapmap]
rs16875583	0.80[ASN][1000 genomes]
rs1961469	0.96[ASN][1000 genomes]
rs1961470	0.96[ASN][1000 genomes]
rs2616502	0.87[ASN][1000 genomes]
rs2664363	0.95[ASN][1000 genomes]
rs2664365	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs278885	0.84[ASN][1000 genomes]
rs278886	0.87[ASN][1000 genomes]
rs278888	0.95[ASN][1000 genomes]
rs278890	0.85[CHB][hapmap];0.87[ASN][1000 genomes]
rs278891	0.85[CHB][hapmap];0.89[CHD][hapmap];0.87[ASN][1000 genomes]
rs278892	0.85[CHB][hapmap];0.87[ASN][1000 genomes]
rs278893	0.87[ASN][1000 genomes]
rs278894	0.95[ASN][1000 genomes]
rs278895	0.96[ASN][1000 genomes]
rs278897	0.84[ASN][1000 genomes]
rs55792056	0.96[ASN][1000 genomes]
rs56801608	0.96[ASN][1000 genomes]
rs62524653	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029898	chr8:88837956-89606641	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv428520	chr8:88933423-89089323	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	esv2758163	chr8:88963829-89133704	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv2759625	chr8:88963829-89133704	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	esv2762758	chr8:89013301-89033922	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2616510	FAM82B	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:89013600-89018800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr8:89013800-89018800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:89014800-89019800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:89015600-89018200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr8:89017200-89018600	Enhancers	HUVEC	blood vessel
6	chr8:89017400-89020600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:89017400-89021200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:89017600-89018800	Weak transcription	Fetal Lung	lung

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