Variant report

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96163106..96166154-chr8:96205325..96207933,3	MCF-7	breast:
2	chr8:96109979..96112421-chr8:96207106..96209124,2	MCF-7	breast:
3	chr8:96139078..96141526-chr8:96207452..96210065,2	MCF-7	breast:
4	chr8:96201649..96205216-chr8:96206550..96209721,4	MCF-7	breast:
5	chr8:96202506..96205446-chr8:96207707..96209234,2	K562	blood:
6	chr8:96205463..96207920-chr8:96210246..96213783,6	MCF-7	breast:
7	chr8:96206515..96208115-chr8:96256638..96258375,2	MCF-7	breast:
8	chr8:95908877..95910407-chr8:96207117..96208720,2	MCF-7	breast:
9	chr8:96145911..96148634-chr8:96205437..96208430,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000175305	Chromatin interaction
ENSG00000175895	Chromatin interaction

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2439639	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs2439640	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2514570	0.80[JPT][hapmap]
rs880641	0.84[JPT][hapmap]
rs880642	0.84[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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv523655	chr8:96205920-96239113	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv16466	chr8:96206151-96243934	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr8:96203600-96208200	Weak transcription	Right Ventricle	heart
2	chr8:96204400-96208200	Weak transcription	Gastric	stomach
3	chr8:96204600-96212400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr8:96205000-96208000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr8:96205000-96213400	Weak transcription	Lung	lung
6	chr8:96205600-96210200	Weak transcription	HMEC	breast
7	chr8:96205600-96213800	Weak transcription	Thymus	Thymus
8	chr8:96205800-96208200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:96205800-96208200	Weak transcription	NHEK	skin
10	chr8:96206000-96208200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:96206000-96208200	Weak transcription	Placenta	Placenta
12	chr8:96206200-96210000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:96206400-96215000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr8:96206600-96208200	Weak transcription	Right Atrium	heart
15	chr8:96206800-96208000	Weak transcription	Fetal Thymus	thymus
16	chr8:96206800-96208800	Enhancers	Hela-S3	cervix
17	chr8:96207000-96209200	Enhancers	Esophagus	oesophagus
18	chr8:96207400-96208000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr8:96207400-96212800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:96207600-96207800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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