Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:134437377..134440079-chr2:134447869..134449791,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1110671	0.81[ASN][1000 genomes]
rs12473486	0.88[ASN][1000 genomes]
rs12998715	0.81[ASN][1000 genomes]
rs1374407	0.88[ASN][1000 genomes]
rs1869051	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1869052	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1900350	0.82[ASN][1000 genomes]
rs2123086	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2874460	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3905278	0.80[ASN][1000 genomes]
rs4129551	0.80[ASN][1000 genomes]
rs4386376	0.80[ASN][1000 genomes]
rs4494809	0.82[ASN][1000 genomes]
rs4533517	0.83[ASN][1000 genomes]
rs4589812	0.80[ASN][1000 genomes]
rs4605420	0.81[ASN][1000 genomes]
rs6414016	0.80[ASN][1000 genomes]
rs6430444	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6430450	0.81[ASN][1000 genomes]
rs7576406	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	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134447400-134449400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:134447800-134449200	Enhancers	Brain Hippocampus Middle	brain
3	chr2:134448000-134448600	Enhancers	Brain Substantia Nigra	brain
4	chr2:134448000-134449200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr2:134448200-134448600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr2:134448200-134448600	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr2:134448200-134449400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:134448400-134449200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:134448400-134449200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:134448400-134449200	Enhancers	Brain Cingulate Gyrus	brain
11	chr2:134448400-134449400	Enhancers	Fetal Lung	lung

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