Variant report

Variant	rs4768180
Chromosome Location	chr12:40176439-40176440
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10444571	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10444572	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10747879	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10784058	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4238074	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4238075	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4238077	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4238078	0.95[EUR][1000 genomes]
rs4267135	0.95[EUR][1000 genomes]
rs4268570	1.00[EUR][1000 genomes]
rs4321021	0.95[EUR][1000 genomes]
rs4322462	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4334097	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4334098	1.00[ASN][1000 genomes]
rs4334099	1.00[ASN][1000 genomes]
rs4374002	1.00[ASN][1000 genomes]
rs4391873	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4397917	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[ASN][1000 genomes]
rs4441086	1.00[ASN][1000 genomes]
rs4447240	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4450227	1.00[ASN][1000 genomes]
rs4511345	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4529945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4533100	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4544077	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4576894	0.81[EUR][1000 genomes]
rs4583047	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4611277	1.00[ASN][1000 genomes]
rs4639999	0.95[EUR][1000 genomes]
rs4767953	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768173	1.00[ASN][1000 genomes]
rs4768175	1.00[ASN][1000 genomes]
rs4768176	1.00[ASN][1000 genomes]
rs4768178	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[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6581321	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6581325	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6581326	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6581336	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6581337	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6581338	0.95[EUR][1000 genomes]
rs6581346	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133037	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[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7299595	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300946	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302571	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303581	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310917	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7956254	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7961216	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967287	1.00[ASN][1000 genomes]
rs7967347	1.00[ASN][1000 genomes]
rs7969296	0.95[EUR][1000 genomes]
rs7973782	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975209	0.95[EUR][1000 genomes]
rs9645805	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
8	esv3439863	chr12:40176294-40180179	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
9	esv3376804	chr12:40176306-40180174	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40158200-40179000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:40158200-40199000	Weak transcription	Left Ventricle	heart
3	chr12:40161600-40198800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr12:40174400-40186200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr12:40175400-40179800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr12:40176200-40189400	Weak transcription	Colon Smooth Muscle	Colon

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