Variant report

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125642013..125645236-chr8:125863862..125867426,3	MCF-7	breast:
2	chr8:125864651..125867984-chr8:125934838..125937619,3	MCF-7	breast:
3	chr8:125854213..125856591-chr8:125864629..125866276,2	MCF-7	breast:
4	chr8:125790726..125793604-chr8:125864774..125866387,2	MCF-7	breast:
5	chr8:125863185..125866167-chr8:125900364..125902687,2	K562	blood:
6	chr4:141635333..141638070-chr8:125864538..125866745,2	MCF-7	breast:
7	chr8:125865686..125867784-chr8:125906339..125908713,3	MCF-7	breast:
8	chr8:125736316..125742243-chr8:125861977..125870763,24	MCF-7	breast:
9	chr8:125601699..125603557-chr8:125863717..125866161,2	MCF-7	breast:
10	chr8:125568061..125569808-chr8:125864894..125866504,2	MCF-7	breast:
11	chr8:125568548..125570279-chr8:125865531..125868278,2	MCF-7	breast:
12	chr8:125864922..125866655-chr8:125925294..125927990,2	MCF-7	breast:
13	chr8:125619061..125621070-chr8:125864573..125866368,2	MCF-7	breast:
14	chr8:125551556..125553845-chr8:125864809..125867694,2	MCF-7	breast:
15	chr8:125849543..125852163-chr8:125864125..125866129,2	MCF-7	breast:
16	chr8:125734815..125743876-chr8:125864194..125871100,21	MCF-7	breast:
17	chr8:125865723..125867850-chr8:125937365..125941183,3	MCF-7	breast:
18	chr8:125865612..125869079-chr8:125880242..125881990,3	K562	blood:
19	chr8:125793631..125795997-chr8:125865108..125867382,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000147687	Chromatin interaction
ENSG00000170873	Chromatin interaction

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10093649	0.88[EUR][1000 genomes]
rs10956219	0.99[EUR][1000 genomes]
rs10956220	0.99[EUR][1000 genomes]
rs11774426	0.99[EUR][1000 genomes]
rs11990757	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11994576	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11994907	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12542397	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12547431	0.99[EUR][1000 genomes]
rs12549299	0.99[EUR][1000 genomes]
rs28446872	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28460087	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28597931	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28731447	0.82[EUR][1000 genomes]
rs4870928	0.98[EUR][1000 genomes]
rs4871558	0.99[EUR][1000 genomes]
rs4871560	0.99[EUR][1000 genomes]
rs6470288	0.97[EUR][1000 genomes]
rs6470289	0.99[EUR][1000 genomes]
rs6470290	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6470294	0.99[EUR][1000 genomes]
rs6992468	0.99[EUR][1000 genomes]
rs7015626	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7460031	0.99[EUR][1000 genomes]
rs7463566	0.99[EUR][1000 genomes]
rs7835994	0.98[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125860400-125866000	Weak transcription	Esophagus	oesophagus
2	chr8:125861400-125866000	Weak transcription	Pancreas	Pancrea
3	chr8:125861400-125869000	Weak transcription	Ovary	ovary
4	chr8:125862200-125866000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:125862200-125867200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr8:125862200-125868000	Weak transcription	HMEC	breast
7	chr8:125863000-125868600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:125863800-125868600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:125863800-125869000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:125864400-125866000	Weak transcription	K562	blood
11	chr8:125865400-125866400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:125865600-125866800	Enhancers	Fetal Heart	heart
13	chr8:125865600-125867200	Enhancers	HepG2	liver
14	chr8:125865800-125866200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr8:125865800-125866400	Enhancers	Left Ventricle	heart

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