Variant report

Variant	rs12680426
Chromosome Location	chr8:124773345-124773346
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124768308..124770541-chr8:124771311..124773902,2	MCF-7	breast:
2	chr8:124745024..124747551-chr8:124772382..124774109,2	MCF-7	breast:
3	chr8:124640436..124642516-chr8:124772118..124774923,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10505440	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978679	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978680	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978681	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6651229	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7387172	0.96[EUR][1000 genomes]
rs7836620	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831451	chr8:124710946-124885148	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv6373	chr8:124741567-124786609	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124762200-124775600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:124767400-124775600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:124767800-124778400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:124768600-124774200	Weak transcription	Colon Smooth Muscle	Colon
5	chr8:124770200-124775800	Enhancers	Fetal Intestine Large	intestine
6	chr8:124770200-124776200	Enhancers	Fetal Intestine Small	intestine
7	chr8:124770400-124774600	Enhancers	Duodenum Mucosa	Duodenum
8	chr8:124770600-124780000	Weak transcription	Pancreas	Pancrea
9	chr8:124770800-124775400	Weak transcription	Liver	Liver
10	chr8:124771800-124774000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr8:124772200-124774800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:124772600-124775200	Enhancers	Fetal Heart	heart
13	chr8:124773000-124773400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:124773000-124773400	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr8:124773000-124773400	Enhancers	NH-A	brain
16	chr8:124773000-124773400	Enhancers	NHEK	skin
17	chr8:124773000-124773600	Enhancers	Small Intestine	intestine
18	chr8:124773000-124773600	Enhancers	K562	blood
19	chr8:124773000-124774000	Enhancers	Rectal Smooth Muscle	rectum
20	chr8:124773000-124774800	Enhancers	Fetal Lung	lung
21	chr8:124773000-124775000	Enhancers	HUVEC	blood vessel
22	chr8:124773000-124775600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr8:124773200-124773600	Enhancers	Placenta Amnion	Placenta Amnion
24	chr8:124773200-124773600	Enhancers	Osteobl	bone
25	chr8:124773200-124774600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:124773200-124776000	Enhancers	HepG2	liver

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