Variant report

Variant	rs66484722
Chromosome Location	chr12:40314652-40314653
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	chr12:40301225..40304048-chr12:40312812..40315442,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17127219	1.00[AMR][1000 genomes]
rs7135349	1.00[AMR][1000 genomes]
rs73092219	1.00[AMR][1000 genomes]
rs73092225	1.00[AMR][1000 genomes]
rs73092257	1.00[AMR][1000 genomes]
rs73105001	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv558593	chr12:40279428-40317017	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	esv2757500	chr12:40299913-40331853	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	esv2759895	chr12:40299913-40331853	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	nsv8966	chr12:40301433-40316300	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	esv3485964	chr12:40301558-40315926	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
10	nsv436152	chr12:40301604-40316186	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
11	esv3485941	chr12:40301606-40315901	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
12	esv2421863	chr12:40301611-40314753	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
13	esv3485975	chr12:40301623-40315887	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
14	esv3485953	chr12:40301638-40315841	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
15	esv3485986	chr12:40301638-40315841	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
16	esv19327	chr12:40301693-40315894	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
17	esv3693121	chr12:40301720-40317017	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
18	nsv1038858	chr12:40303505-40314741	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
19	esv2760268	chr12:40303505-40317643	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
20	nsv442269	chr12:40303506-40315026	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
21	nsv1051380	chr12:40303631-40314741	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
22	esv2754680	chr12:40303633-40315033	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
23	nsv1048984	chr12:40303909-40314741	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40311400-40315400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr12:40311400-40317800	Weak transcription	Aorta	Aorta
3	chr12:40311600-40315000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr12:40311600-40315200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr12:40311600-40316200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:40311600-40318600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:40312600-40316400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:40313800-40317800	Enhancers	Liver	Liver
9	chr12:40314600-40315200	Enhancers	Pancreas	Pancrea

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