Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:86138112..86140089-chr8:86141677..86143290,2	K562	blood:
2	chr8:86128574..86130882-chr8:86137075..86139470,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176731	Chromatin interaction
ENSG00000185015	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1021457	1.00[ASN][1000 genomes]
rs1021458	1.00[ASN][1000 genomes]
rs1472200	1.00[ASN][1000 genomes]
rs1493301	1.00[ASN][1000 genomes]
rs17741410	1.00[ASN][1000 genomes]
rs17814075	1.00[ASN][1000 genomes]
rs17814183	1.00[ASN][1000 genomes]
rs17814255	1.00[ASN][1000 genomes]
rs17814594	1.00[ASN][1000 genomes]
rs2466764	1.00[ASN][1000 genomes]
rs2645050	1.00[ASN][1000 genomes]
rs2725295	1.00[ASN][1000 genomes]
rs62512497	1.00[ASN][1000 genomes]
rs62512498	1.00[ASN][1000 genomes]
rs62527224	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6984702	1.00[ASN][1000 genomes]
rs6990339	1.00[ASN][1000 genomes]
rs6994366	1.00[ASN][1000 genomes]
rs7817747	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs981495	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3481417	chr8:85279453-86145229	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv3481418	chr8:85279453-86145229	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv971329	chr8:86094967-86183119	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86133000-86143200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:86133000-86145800	Weak transcription	Gastric	stomach
3	chr8:86133800-86157200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:86134600-86157200	Weak transcription	Right Atrium	heart
5	chr8:86135200-86147000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr8:86135200-86155200	Weak transcription	Primary B cells from cord blood	blood
7	chr8:86135400-86151400	Weak transcription	HepG2	liver
8	chr8:86136000-86141400	Weak transcription	GM12878-XiMat	blood
9	chr8:86136000-86157200	Weak transcription	Liver	Liver
10	chr8:86136200-86157000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:86136400-86145800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr8:86136400-86157000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:86137400-86147000	Weak transcription	Fetal Intestine Large	intestine
14	chr8:86138200-86145800	Weak transcription	Fetal Intestine Small	intestine

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