Variant report

No.	Distal block	Cell Line	Cell type
1	chr8:103638875..103641204-chr8:103798891..103801842,3	MCF-7	breast:
2	chr8:103633533..103635740-chr8:103636882..103639371,2	K562	blood:
3	chr8:103638730..103642072-chr8:103644705..103647673,4	MCF-7	breast:
4	chr8:103625983..103628633-chr8:103638163..103641004,2	MCF-7	breast:
5	chr8:103638288..103640009-chr8:103821096..103823943,2	MCF-7	breast:
6	chr8:103635452..103642989-chr8:103815632..103824530,15	MCF-7	breast:
7	chr8:103589874..103592222-chr8:103638978..103641450,2	K562	blood:

Variant related genes	Relation type
ENSG00000253382	Chromatin interaction
ENSG00000253669	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs2436928	0.83[ASN][1000 genomes]
rs2436951	0.93[ASN][1000 genomes]
rs2436952	0.93[ASN][1000 genomes]
rs2436955	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2436956	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2436957	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2436958	0.98[ASN][1000 genomes]
rs2436959	0.84[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2436960	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2436962	0.87[ASN][1000 genomes]
rs2436963	0.91[ASN][1000 genomes]
rs2436964	0.91[ASN][1000 genomes]
rs2436965	0.91[ASN][1000 genomes]
rs2436967	0.91[ASN][1000 genomes]
rs2436969	0.91[ASN][1000 genomes]
rs2511656	0.87[ASN][1000 genomes]
rs2511659	0.91[ASN][1000 genomes]
rs2511661	0.84[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2511666	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66485119	0.91[ASN][1000 genomes]
rs873780	0.89[ASN][1000 genomes]

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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1028329	chr8:103574775-103684362	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103622800-103646400	Weak transcription	Psoas Muscle	Psoas
2	chr8:103634200-103639600	Weak transcription	Fetal Muscle Leg	muscle
3	chr8:103635000-103646600	Weak transcription	Right Atrium	heart
4	chr8:103635600-103639600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:103635800-103639400	Weak transcription	Colon Smooth Muscle	Colon
6	chr8:103636200-103639600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:103637200-103639400	Weak transcription	Fetal Brain Male	brain
8	chr8:103637200-103642400	Enhancers	Placenta	Placenta
9	chr8:103638000-103639600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:103638000-103641400	Enhancers	HepG2	liver
11	chr8:103638400-103640200	Weak transcription	Liver	Liver
12	chr8:103638600-103639600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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