Variant report

Variant	rs11986446
Chromosome Location	chr8:125760891-125760892
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:125760544..125764834-chr8:125765682..125769658,5	MCF-7	breast:
2	chr8:125750583..125752595-chr8:125760050..125762806,2	K562	blood:
3	chr8:125759234..125761898-chr8:125763537..125765246,2	K562	blood:
4	chr8:125760489..125763327-chr8:125826229..125828714,2	K562	blood:
5	chr8:125758805..125762963-chr8:125825866..125829295,4	K562	blood:
6	chr8:125739372..125742267-chr8:125758626..125761632,3	MCF-7	breast:
7	chr8:125760144..125761703-chr8:125762855..125765412,2	MCF-7	breast:
8	chr8:125759783..125761940-chr8:125763482..125765437,3	K562	blood:

No data

No data

No data

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10086288	0.96[ASN][1000 genomes]
rs10091760	0.88[ASN][1000 genomes]
rs10107264	0.97[ASN][1000 genomes]
rs12675098	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12681270	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871533	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv891435	chr8:125747374-125764361	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv517427	chr8:125749707-125766271	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	esv275160	chr8:125755750-125761165	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125755600-125761000	Weak transcription	Stomach Mucosa	stomach
2	chr8:125756000-125761000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:125756000-125761000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr8:125756000-125763800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:125756000-125763800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:125756000-125763800	Weak transcription	Osteobl	bone
7	chr8:125756200-125761000	Weak transcription	Fetal Intestine Large	intestine
8	chr8:125759800-125764800	Enhancers	Fetal Heart	heart
9	chr8:125760000-125761400	Weak transcription	Right Atrium	heart
10	chr8:125760200-125761200	Weak transcription	Esophagus	oesophagus
11	chr8:125760400-125764600	Enhancers	K562	blood
12	chr8:125760800-125761800	Enhancers	Fetal Intestine Small	intestine
13	chr8:125760800-125762800	Weak transcription	Primary B cells from cord blood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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