Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:99056304..99059597-chr8:99060333..99064411,5	K562	blood:

Variant related genes	Relation type
ENSG00000156482	Chromatin interaction

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

rs_ID	r²[population]
rs10093417	0.92[ASN][1000 genomes]
rs10109972	0.81[AFR][1000 genomes]
rs1378122	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2010016	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2061052	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2255317	0.91[ASN][1000 genomes]
rs2331692	0.88[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2444859	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2444866	0.85[ASN][1000 genomes]
rs2444885	0.86[ASN][1000 genomes]
rs2444894	0.92[ASN][1000 genomes]
rs2444898	0.94[ASN][1000 genomes]
rs2447488	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2513806	0.92[ASN][1000 genomes]
rs2513808	0.93[ASN][1000 genomes]
rs2513817	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2513819	0.88[ASN][1000 genomes]
rs2513823	0.87[ASN][1000 genomes]
rs2959642	0.92[ASN][1000 genomes]
rs73701230	0.83[AFR][1000 genomes]
rs748324	0.94[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	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv465745	chr8:99061992-99116201	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv611805	chr8:99061992-99116201	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 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	chr8:99059200-99064200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr8:99059200-99065000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr8:99059200-99066200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:99059200-99070800	Weak transcription	A549	lung
5	chr8:99059200-99071000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:99059400-99064600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:99059400-99076200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:99059600-99064400	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr8:99060000-99064200	Weak transcription	Fetal Intestine Small	intestine
10	chr8:99060800-99064600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:99060800-99065000	Weak transcription	Liver	Liver

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