Variant report

Variant	rs12818818
Chromosome Location	chr12:62697414-62697415
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:62697246-62698559	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:62696269..62698660-chr12:62715380..62717526,2	K562	blood:
2	chr12:62696887..62698496-chr12:62702345..62703932,2	MCF-7	breast:
3	chr12:62683752..62687309-chr12:62693284..62697639,4	K562	blood:

Variant related genes	Relation type
USP15	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11174402	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174406	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174407	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174414	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174415	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174429	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174443	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174444	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174454	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174457	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174461	1.00[ASN][1000 genomes]
rs11174462	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174476	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174479	1.00[ASN][1000 genomes]
rs11174492	1.00[ASN][1000 genomes]
rs11174499	1.00[ASN][1000 genomes]
rs11174500	1.00[ASN][1000 genomes]
rs11174501	1.00[ASN][1000 genomes]
rs11174506	1.00[ASN][1000 genomes]
rs11174512	1.00[ASN][1000 genomes]
rs11174524	1.00[ASN][1000 genomes]
rs12811821	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12814369	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12816968	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12821047	0.89[EUR][1000 genomes]
rs12821894	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12826072	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17718211	1.00[ASN][1000 genomes]
rs34007988	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34162598	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34251904	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34301355	1.00[ASN][1000 genomes]
rs34339271	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34684698	1.00[ASN][1000 genomes]
rs35360491	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35533759	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71465148	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71465151	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7314752	1.00[ASN][1000 genomes]
rs7973386	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7976993	1.00[ASN][1000 genomes]
rs7978244	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035150	chr12:62615347-62785005	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1049465	chr12:62657011-62785005	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1053403	chr12:62657011-62809413	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv530690	chr12:62678463-62999462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62683600-62697600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:62684000-62716200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:62686200-62720200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:62686400-62698200	Weak transcription	Small Intestine	intestine
5	chr12:62686400-62736400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:62686800-62698200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:62686800-62704600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:62687000-62698200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:62687000-62699600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:62687000-62701400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:62687000-62702000	Weak transcription	Gastric	stomach
12	chr12:62687200-62718200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:62687400-62720600	Weak transcription	Right Ventricle	heart
14	chr12:62688800-62698200	Weak transcription	Psoas Muscle	Psoas
15	chr12:62689400-62716000	Weak transcription	Colonic Mucosa	Colon
16	chr12:62689600-62717400	Weak transcription	Brain Angular Gyrus	brain
17	chr12:62689800-62698200	Strong transcription	K562	blood
18	chr12:62690200-62702000	Weak transcription	Left Ventricle	heart
19	chr12:62690600-62698200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:62691000-62698200	Weak transcription	HSMMtube	muscle
21	chr12:62691200-62699400	Weak transcription	Pancreas	Pancrea
22	chr12:62691200-62699600	Weak transcription	Aorta	Aorta
23	chr12:62691200-62716400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:62691200-62736400	Weak transcription	Esophagus	oesophagus
25	chr12:62691200-62736600	Weak transcription	Lung	lung
26	chr12:62691400-62698000	Weak transcription	HepG2	liver
27	chr12:62691600-62697600	Weak transcription	Brain Anterior Caudate	brain
28	chr12:62691600-62698000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr12:62691600-62699600	Weak transcription	Spleen	Spleen
30	chr12:62691800-62706000	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr12:62692000-62697600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr12:62692000-62697600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:62692000-62699600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr12:62692200-62697800	Weak transcription	Adipose Nuclei	Adipose
35	chr12:62692200-62698000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr12:62692200-62698200	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr12:62692800-62697600	Weak transcription	Fetal Muscle Leg	muscle
38	chr12:62692800-62699400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr12:62693200-62697800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:62693200-62698200	Weak transcription	Ovary	ovary
41	chr12:62693200-62698200	Weak transcription	Thymus	Thymus
42	chr12:62693200-62699600	Weak transcription	Fetal Stomach	stomach
43	chr12:62693200-62711800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:62693400-62697600	Weak transcription	Brain Substantia Nigra	brain
45	chr12:62693400-62697800	Weak transcription	Fetal Kidney	kidney
46	chr12:62693400-62697800	Weak transcription	Fetal Lung	lung
47	chr12:62693400-62697800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr12:62693400-62699400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr12:62693600-62697600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:62695000-62698000	Weak transcription	Fetal Heart	heart

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