Variant report

Variant	rs4447240
Chromosome Location	chr12:40152900-40152901
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:40150704..40153291-chr12:40154955..40157099,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10444571	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10444572	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10747879	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10784058	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4238074	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4238075	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4238077	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4238078	0.95[EUR][1000 genomes]
rs4267135	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs4268570	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4321021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4322462	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4334097	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4334098	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4334099	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4374002	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4391873	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4397917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4426190	0.94[EUR][1000 genomes]
rs4427625	0.95[EUR][1000 genomes]
rs4435073	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4441086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4450227	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4511345	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4529945	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4533100	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4544077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4576894	0.81[EUR][1000 genomes]
rs4583047	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4611277	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4639999	0.95[EUR][1000 genomes]
rs4767953	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768173	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4768175	1.00[ASN][1000 genomes]
rs4768176	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4768178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768180	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768181	0.95[EUR][1000 genomes]
rs4768182	0.95[EUR][1000 genomes]
rs56122050	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6581321	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6581325	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6581326	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6581336	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6581337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6581338	0.95[EUR][1000 genomes]
rs6581346	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133037	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135021	1.00[ASN][1000 genomes]
rs7135047	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297063	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7299595	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300946	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302571	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310917	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7956254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7961216	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967287	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7967347	1.00[ASN][1000 genomes]
rs7969296	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs7973782	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975209	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs9645805	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv899024	chr12:40046408-40188870	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1053603	chr12:40082673-40197609	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv427907	chr12:40122713-40199621	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv428280	chr12:40122713-40199621	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40130800-40156400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr12:40137200-40154200	Weak transcription	Liver	Liver
3	chr12:40143800-40156800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr12:40144200-40156200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:40144200-40157600	Weak transcription	Pancreas	Pancrea
6	chr12:40144800-40166400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:40145000-40175000	Weak transcription	Right Ventricle	heart
8	chr12:40145200-40154000	Weak transcription	Fetal Intestine Large	intestine
9	chr12:40145600-40157400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr12:40146000-40166800	Weak transcription	Ovary	ovary
11	chr12:40146200-40157200	Weak transcription	Aorta	Aorta
12	chr12:40146200-40157200	Weak transcription	Left Ventricle	heart
13	chr12:40146200-40159000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:40147400-40157200	Weak transcription	Adipose Nuclei	Adipose
15	chr12:40147800-40153400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:40148000-40157000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr12:40148200-40157000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr12:40150000-40157200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:40150200-40160400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:40151400-40160600	Weak transcription	NHDF-Ad	bronchial
21	chr12:40151600-40157200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:40151800-40160800	Weak transcription	Colon Smooth Muscle	Colon
23	chr12:40152400-40156400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr12:40152800-40159600	Weak transcription	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links