Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:76884483..76887341-chr1:76890524..76892236,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11806270	1.00[YRI][hapmap]
rs12068326	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.96[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12742405	1.00[ASW][hapmap];0.93[GIH][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs12757663	0.85[CEU][hapmap];0.89[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.94[TSI][hapmap];0.82[YRI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2147791	0.89[CHB][hapmap]
rs34530096	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36017719	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4565767	1.00[CHB][hapmap];0.84[JPT][hapmap];0.86[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	nsv870621	chr1:76620313-76997071	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv534168	chr1:76718950-77039352	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1006776	chr1:76777323-76899975	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv462006	chr1:76826279-77042405	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv546585	chr1:76826279-77042405	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7529530	TNNI3K	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76878600-76898400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:76882200-76898000	Weak transcription	Primary B cells from cord blood	blood
3	chr1:76888800-76891000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:76888800-76891000	Weak transcription	Ovary	ovary
5	chr1:76889000-76891000	Weak transcription	Fetal Brain Male	brain
6	chr1:76889200-76891200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:76889800-76891000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr1:76890200-76891000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr1:76890200-76891400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr1:76890200-76891800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr1:76890400-76891000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:76890400-76891000	Active TSS	Aorta	Aorta
13	chr1:76890400-76891800	Active TSS	GM12878-XiMat	blood
14	chr1:76890600-76891600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr1:76890800-76891200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:76890800-76891200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:76890800-76891200	Enhancers	NHDF-Ad	bronchial
18	chr1:76890800-76891600	Flanking Active TSS	Fetal Lung	lung
19	chr1:76890800-76891600	Enhancers	NH-A	brain
20	chr1:76890800-76891800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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