Variant report

Variant	rs73101286
Chromosome Location	chr12:40227174-40227175
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs61348149	1.00[AFR][1000 genomes]
rs7305465	1.00[AMR][1000 genomes]
rs73092112	0.82[AFR][1000 genomes]
rs73092158	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102575	0.82[AFR][1000 genomes]
rs73103036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73104971	1.00[AMR][1000 genomes]
rs73104975	1.00[AMR][1000 genomes]
rs73104978	1.00[AMR][1000 genomes]
rs73104981	1.00[AMR][1000 genomes]
rs73104984	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
7	nsv1046428	chr12:40226283-40439843	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv541481	chr12:40226283-40439843	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 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	chr12:40224400-40232800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:40224400-40240400	Weak transcription	Left Ventricle	heart
14	chr12:40224400-40246600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:40225800-40227600	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr12:40226400-40227600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:40226400-40275000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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