Variant report

Variant	nsv973016
Chromosome Location	chr12:8612468-8614126
allele	n/a
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	CTCF	chr12:8613636-8613765	A549	lung:	n/a	n/a
2	CTCF	chr12:8613694-8613719	MCF-7	breast:	n/a	n/a
3	CTCF	chr12:8613661-8613725	MCF-7	breast:	n/a	n/a
4	MAFF	chr12:8614034-8614382	HepG2	liver:	n/a	chr12:8614208-8614226
5	MAFF	chr12:8614062-8614339	K562	blood:	n/a	chr12:8614208-8614226
6	MAFK	chr12:8614047-8614370	HepG2	liver:	n/a	chr12:8614209-8614224 chr12:8614213-8614224 chr12:8614214-8614225 chr12:8614209-8614225 chr12:8614214-8614225 chr12:8614212-8614226
7	MAFK	chr12:8614063-8614358	Hela-S3	cervix:	n/a	chr12:8614209-8614224 chr12:8614213-8614224 chr12:8614214-8614225 chr12:8614209-8614225 chr12:8614214-8614225 chr12:8614212-8614226
8	MAFK	chr12:8614036-8614370	H1-hESC	embryonic stem cell:	n/a	chr12:8614209-8614224 chr12:8614213-8614224 chr12:8614214-8614225 chr12:8614209-8614225 chr12:8614214-8614225 chr12:8614212-8614226
9	MAFK	chr12:8614037-8614392	HepG2	liver:	n/a	chr12:8614209-8614224 chr12:8614213-8614224 chr12:8614214-8614225 chr12:8614209-8614225 chr12:8614214-8614225 chr12:8614212-8614226
10	MAFK	chr12:8614076-8614355	K562	blood:	n/a	chr12:8614209-8614224 chr12:8614213-8614224 chr12:8614214-8614225 chr12:8614209-8614225 chr12:8614214-8614225 chr12:8614212-8614226
11	MAFK	chr12:8614049-8614365	IMR90	lung:	n/a	chr12:8614209-8614224 chr12:8614213-8614224 chr12:8614214-8614225 chr12:8614209-8614225 chr12:8614214-8614225 chr12:8614212-8614226
12	POLR2A	chr12:8613176-8613354	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr12:8613201-8613345	GM12878	blood:	n/a	n/a
14	POLR2A	chr12:8613168-8613363	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr12:8613160-8613373	GM12878	blood:	n/a	n/a
16	POLR2A	chr12:8613229-8613347	GM12878	blood:	n/a	n/a
17	POLR2A	chr12:8613105-8613398	GM12878	blood:	n/a	n/a
18	SPI1	chr12:8613139-8613288	K562	blood:	n/a	chr12:8613164-8613177
19	SPI1	chr12:8613062-8613267	HL-60	blood:	n/a	chr12:8613164-8613177
20	SPI1	chr12:8613102-8613297	K562	blood:	n/a	chr12:8613164-8613177

Variant related genes	Relation type
ENSG00000243830	TF binding region

Extended variants
information (count: 60 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12300621	chr12:8612481-8612482	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs12302015	chr12:8612484-8612485	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs370793092	chr12:8612514-8612515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373747736	chr12:8612523-8612524	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184731167	chr12:8612528-8612529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139331642	chr12:8612533-8612534	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537199791	chr12:8612552-8612553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113428464	chr12:8612587-8612588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549199106	chr12:8612718-8612719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566222055	chr12:8612747-8612748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377019556	chr12:8612759-8612760	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189634428	chr12:8612765-8612766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10770737	chr12:8612791-8612792	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs377327117	chr12:8612876-8612877	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs61922366	chr12:8612928-8612929	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140009247	chr12:8612991-8612992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143916658	chr12:8613070-8613071	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs10770738	chr12:8613079-8613080	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs373705498	chr12:8613097-8613098	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs181561516	chr12:8613098-8613099	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs146865954	chr12:8613113-8613114	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs370228629	chr12:8613132-8613133	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs374003588	chr12:8613152-8613153	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs187114357	chr12:8613192-8613193	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs10770739	chr12:8613204-8613205	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs189485620	chr12:8613212-8613213	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs148981317	chr12:8613305-8613306	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116200034	chr12:8613357-8613358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370889783	chr12:8613361-8613362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181181243	chr12:8613362-8613363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115286993	chr12:8613386-8613387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10770740	chr12:8613412-8613413	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs74059852	chr12:8613414-8613415	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs370909491	chr12:8613430-8613431	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551841636	chr12:8613435-8613436	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75561605	chr12:8613445-8613446	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372627213	chr12:8613458-8613459	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142947078	chr12:8613475-8613476	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs151086626	chr12:8613476-8613477	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559510546	chr12:8613519-8613520	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377298399	chr12:8613546-8613547	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548471385	chr12:8613574-8613575	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201241576	chr12:8613576-8613577	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140228594	chr12:8613678-8613679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141925626	chr12:8613689-8613690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146952227	chr12:8613691-8613692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540741866	chr12:8613692-8613693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs137932843	chr12:8613697-8613698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs202223465	chr12:8613727-8613728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115924935	chr12:8613794-8613795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8602200-8615000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:8606800-8613400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:8607600-8614000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:8608800-8613400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:8609000-8613400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:8609000-8613400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:8610800-8613400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr12:8611000-8613800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:8611000-8614000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:8612200-8613600	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr12:8613400-8614000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr12:8613400-8614600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr12:8613400-8614800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr12:8613400-8614800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr12:8613400-8614800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr12:8613400-8614800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr12:8613600-8617400	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr12:8613800-8616600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr12:8614000-8614600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr12:8614000-8614800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:8614000-8615600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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