Variant report

Variant	rs181294040
Chromosome Location	chr8:125869143-125869144
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125867918..125869705-chr8:125935657..125937307,2	MCF-7	breast:
2	chr8:125784610..125786234-chr8:125867558..125869281,2	MCF-7	breast:
3	chr8:125793403..125794164-chr8:125868760..125869616,2	MCF-7	breast:
4	chr8:125868981..125870600-chr8:125931109..125933368,2	MCF-7	breast:
5	chr8:125866488..125871186-chr8:126008597..126013344,9	MCF-7	breast:
6	chr8:125868740..125869654-chr8:125884258..125885154,2	MCF-7	breast:
7	chr8:125736316..125742243-chr8:125861977..125870763,24	MCF-7	breast:
8	chr8:125793496..125794040-chr8:125869034..125869649,2	MCF-7	breast:
9	chr8:125550224..125552567-chr8:125866024..125869160,3	MCF-7	breast:
10	chr8:125867579..125869435-chr8:125880490..125882820,2	K562	blood:
11	chr8:125538432..125540496-chr8:125866571..125869379,2	MCF-7	breast:
12	chr8:125867907..125869497-chr8:125918999..125920698,2	MCF-7	breast:
13	chr8:125734815..125743876-chr8:125864194..125871100,21	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000147687	Chromatin interaction
ENSG00000170873	Chromatin interaction
ENSG00000253513	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000250428	Chromatin interaction
ENSG00000104549	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	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
2	nsv1030803	chr8:125868684-125969635	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1024405	chr8:125868684-125971035	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1020502	chr8:125868684-125972572	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125866200-125869400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr8:125866400-125869200	Weak transcription	Esophagus	oesophagus
3	chr8:125866400-125869400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:125867200-125869200	Weak transcription	Right Ventricle	heart
5	chr8:125867800-125869200	Weak transcription	Lung	lung
6	chr8:125868000-125869200	Enhancers	HMEC	breast
7	chr8:125868200-125869200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:125868600-125869200	Weak transcription	NHDF-Ad	bronchial
9	chr8:125868600-125869200	Enhancers	NHEK	skin
10	chr8:125868600-125869800	Enhancers	Osteobl	bone
11	chr8:125868600-125870600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:125868600-125870600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:125869000-125869400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:125869000-125869400	Enhancers	Fetal Heart	heart
15	chr8:125869000-125869600	Enhancers	Placenta Amnion	Placenta Amnion
16	chr8:125869000-125869600	Enhancers	HUVEC	blood vessel
17	chr8:125869000-125869800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:125869000-125869800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:125869000-125869800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:125869000-125869800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr8:125869000-125869800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:125869000-125869800	Enhancers	Left Ventricle	heart
23	chr8:125869000-125869800	Enhancers	Ovary	ovary
24	chr8:125869000-125869800	Enhancers	K562	blood

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