Variant report

Variant	rs13278192
Chromosome Location	chr8:124771549-124771550
allele	A/C
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	chr8:124770447..124773015-chr8:124779171..124783167,3	K562	blood:
3	chr8:124762298..124765982-chr8:124768929..124771598,3	MCF-7	breast:
4	chr8:124463936..124466421-chr8:124769993..124771838,2	K562	blood:

Variant related genes	Relation type
ENSG00000176853	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10088262	0.84[ASN][1000 genomes]
rs10099401	0.86[ASN][1000 genomes]
rs10429369	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11785018	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11986791	0.90[EUR][1000 genomes]
rs12546891	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12550235	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13253599	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13261392	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13275308	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13278088	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16898871	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1835691	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1966620	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2272683	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34253744	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34354351	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34850344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35420592	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4870866	0.84[AFR][1000 genomes]
rs4870867	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4871414	0.91[EUR][1000 genomes]
rs4871415	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6470186	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs66515434	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67139073	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67237665	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6985019	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6986269	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6988602	0.93[EUR][1000 genomes]
rs6998271	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7004482	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7012004	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7014688	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7017174	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73333742	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73337418	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7827025	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7846164	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9297674	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9297675	0.89[AMR][1000 genomes];0.90[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:12 , 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	chr8:124770800-124772200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:124770800-124775400	Weak transcription	Liver	Liver
11	chr8:124771400-124771800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr8:124771400-124771800	Enhancers	HepG2	liver

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