Variant report

No data

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

No.	Distal block	Cell Line	Cell type
1	chr20:52571088..52573644-chr20:55787288..55790114,2	MCF-7	breast:
2	chr20:52568956..52571954-chr20:53164781..53166681,2	MCF-7	breast:
3	chr20:52570721..52573433-chr3:64017617..64019723,2	MCF-7	breast:
4	chr17:56788307..56790123-chr20:52571601..52574064,2	MCF-7	breast:
5	chr17:57923947..57925959-chr20:52570541..52572581,2	MCF-7	breast:
6	chr20:52565008..52572229-chr20:55837900..55845361,9	MCF-7	breast:
7	chr1:149220707..149223315-chr20:52570369..52572412,2	MCF-7	breast:
8	chr2:114682272..114683887-chr20:52570600..52573468,2	MCF-7	breast:

No data

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2276510	0.84[JPT][hapmap]
rs371096	0.84[JPT][hapmap]
rs382133	0.84[JPT][hapmap]
rs402992	0.83[JPT][hapmap]
rs4809947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6091793	0.84[JPT][hapmap]
rs6091794	0.84[JPT][hapmap]
rs6097716	0.84[JPT][hapmap]
rs7272317	0.83[JPT][hapmap]

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	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	nsv834009	chr20:52386050-52590795	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	182 gene(s)	inside rSNPs	diseases
3	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
4	nsv1055549	chr20:52555871-52586281	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52564200-52576400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr20:52566400-52574400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr20:52566400-52644800	Weak transcription	Gastric	stomach
4	chr20:52566600-52576200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr20:52566600-52576600	Weak transcription	Brain Anterior Caudate	brain
6	chr20:52566800-52576400	Weak transcription	Fetal Lung	lung
7	chr20:52567000-52576600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr20:52567000-52578200	Weak transcription	Brain Angular Gyrus	brain
9	chr20:52567000-52580200	Weak transcription	Stomach Mucosa	stomach
10	chr20:52570000-52574200	Weak transcription	Brain Hippocampus Middle	brain
11	chr20:52570200-52574400	Weak transcription	Brain Substantia Nigra	brain
12	chr20:52570200-52591800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr20:52570200-52592400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr20:52570600-52576400	Weak transcription	Fetal Kidney	kidney
15	chr20:52570800-52572200	Enhancers	Fetal Stomach	stomach
16	chr20:52570800-52590800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr20:52571200-52572000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr20:52571400-52573400	Weak transcription	NHDF-Ad	bronchial
19	chr20:52571600-52572800	Weak transcription	HSMMtube	muscle
20	chr20:52571800-52572400	Enhancers	HepG2	liver

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