Variant report

Variant	rs73092158
Chromosome Location	chr12:40226118-40226119
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:40223815..40226174-chr12:40498333..40500585,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151229	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs60093332	0.92[AFR][1000 genomes]
rs61348149	0.85[AFR][1000 genomes]
rs7305465	1.00[AMR][1000 genomes]
rs7305817	0.89[AFR][1000 genomes]
rs73087865	0.92[AFR][1000 genomes]
rs73092112	0.96[AFR][1000 genomes]
rs73095613	0.92[AFR][1000 genomes]
rs73095624	0.82[AFR][1000 genomes]
rs73095657	0.92[AFR][1000 genomes]
rs73095664	0.84[AFR][1000 genomes]
rs73101286	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102528	0.92[AFR][1000 genomes]
rs73102537	0.92[AFR][1000 genomes]
rs73102556	0.89[AFR][1000 genomes]
rs73102559	0.89[AFR][1000 genomes]
rs73102562	0.89[AFR][1000 genomes]
rs73102575	0.96[AFR][1000 genomes]
rs73103036	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73104971	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73104975	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73104978	1.00[AMR][1000 genomes]
rs73104981	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73104984	1.00[AMR][1000 genomes]
rs7311368	0.92[AFR][1000 genomes]
rs7962740	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037457	chr12:39898349-40245401	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv541480	chr12:39898349-40245401	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1052012	chr12:40180398-40237782	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1040628	chr12:40180398-40244001	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv899025	chr12:40191778-40321846	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv1049214	chr12:40197549-40326495	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	5 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	chr12:40193800-40255800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr12:40194600-40232600	Weak transcription	Right Ventricle	heart
3	chr12:40199200-40265400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:40209200-40268800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr12:40209400-40249800	Weak transcription	Aorta	Aorta
6	chr12:40213000-40248200	Weak transcription	Fetal Intestine Large	intestine
7	chr12:40216000-40246600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr12:40219800-40272600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:40221800-40232400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:40222000-40239600	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr12:40222200-40259400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr12:40224000-40226400	Enhancers	Liver	Liver
13	chr12:40224400-40232800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:40224400-40240400	Weak transcription	Left Ventricle	heart
15	chr12:40224400-40246600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:40224600-40226400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:40224600-40226800	Enhancers	HepG2	liver
18	chr12:40225000-40226600	Enhancers	Pancreas	Pancrea
19	chr12:40225200-40226400	Enhancers	Hela-S3	cervix
20	chr12:40225400-40226200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr12:40225400-40226400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr12:40225400-40226400	Enhancers	NH-A	brain
23	chr12:40225600-40226600	Enhancers	A549	lung
24	chr12:40225800-40226400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:40225800-40227600	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr12:40226000-40226200	Enhancers	Stomach Mucosa	stomach

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