Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:153100002..153102988-chr20:52599879..52602542,2	MCF-7	breast:
2	chr20:52600751..52601586-chr20:52609196..52610112,2	MCF-7	breast:
3	chr20:52591777..52592704-chr20:52600848..52601728,2	MCF-7	breast:
4	chr20:52600313..52601959-chr6:26156505..26158662,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168298	Chromatin interaction
ENSG00000158373	Chromatin interaction

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs176383	0.83[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs208361	0.95[ASN][1000 genomes]
rs208366	0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs208381	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs208382	0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs208383	0.95[ASN][1000 genomes]
rs376105	0.86[JPT][hapmap]
rs380572	0.91[JPT][hapmap]
rs6013858	0.82[YRI][hapmap]
rs6013864	0.82[YRI][hapmap]
rs6013866	0.81[YRI][hapmap]
rs6013867	0.81[YRI][hapmap]
rs6022891	0.82[YRI][hapmap]
rs6022892	0.82[YRI][hapmap]
rs6022893	0.83[YRI][hapmap]
rs6022894	0.88[YRI][hapmap]
rs6022896	0.81[YRI][hapmap]
rs6022903	0.83[YRI][hapmap]
rs6022907	0.82[YRI][hapmap]
rs6022908	0.80[YRI][hapmap]
rs6022909	0.83[YRI][hapmap]
rs6097705	0.81[YRI][hapmap]
rs6127048	0.93[ASN][1000 genomes]
rs7274783	0.81[YRI][hapmap]
rs878868	0.80[YRI][hapmap]

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	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
2	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52566400-52644800	Weak transcription	Gastric	stomach
2	chr20:52581200-52610600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr20:52599600-52602000	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr20:52600000-52601800	Strong transcription	Stomach Mucosa	stomach
5	chr20:52600200-52602000	Enhancers	Fetal Muscle Leg	muscle
6	chr20:52600400-52602000	Enhancers	HSMM	muscle
7	chr20:52600600-52601600	Enhancers	Brain Hippocampus Middle	brain
8	chr20:52600600-52602200	Enhancers	HSMMtube	muscle
9	chr20:52600800-52601800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr20:52600800-52601800	Enhancers	Brain Cingulate Gyrus	brain
11	chr20:52601000-52601800	Enhancers	Brain Substantia Nigra	brain
12	chr20:52601000-52602000	Enhancers	Fetal Stomach	stomach
13	chr20:52601200-52601600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr20:52601200-52601600	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr20:52601200-52601800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr20:52601400-52601600	Enhancers	NHDF-Ad	bronchial
17	chr20:52601400-52602000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr20:52601400-52602000	Enhancers	Osteobl	bone
19	chr20:52601400-52602800	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr20:52601400-52612400	Weak transcription	Brain Angular Gyrus	brain
21	chr20:52601400-52612400	Weak transcription	Brain Anterior Caudate	brain

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