Variant report

Variant	nsv1045231
Chromosome Location	chr12:8558476-8595531
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:794)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr12:8572227-8572466	GM12878	blood:	n/a	n/a
2	CTCF	chr12:8572215-8572507	K562	blood:	n/a	n/a
3	CTCF	chr12:8572280-8572430	WERI-Rb-1	eye:	n/a	n/a
4	CTCF	chr12:8572221-8572419	K562	blood:	n/a	n/a
5	CTCF	chr12:8575566-8575634	Lung_OC	lung:	n/a	n/a
6	CTCF	chr12:8572180-8572478	A549	lung:	n/a	n/a
7	CTCF	chr12:8572356-8572431	GM19238	blood:	n/a	n/a
8	CTCF	chr12:8572198-8572492	GM19240	blood:	n/a	n/a
9	CTCF	chr12:8572220-8572370	HRE	kidney:	n/a	n/a
10	CTCF	chr12:8566190-8566223	Fibrobl	skin:	n/a	n/a
11	CTCF	chr12:8572320-8572470	HFF	foreskin:	n/a	n/a
12	CTCF	chr12:8572203-8572435	A549	lung:	n/a	n/a
13	CTCF	chr12:8572271-8572506	Lung_OC	lung:	n/a	n/a
14	CTCF	chr12:8572260-8572410	NB4	blood:	n/a	n/a
15	CTCF	chr12:8571966-8572064	GM19240	blood:	n/a	n/a
16	CTCF	chr12:8572330-8572427	Fibrobl	skin:	n/a	n/a
17	CTCF	chr12:8572668-8572710	GM19239	blood:	n/a	n/a
18	CTCF	chr12:8594350-8594390	LNCaP	prostate:	n/a	n/a
19	CTCF	chr12:8572661-8572667	GM19239	blood:	n/a	n/a
20	CTCF	chr12:8572280-8572430	HRE	kidney:	n/a	n/a
21	CTCF	chr12:8591390-8591459	GM10248	blood:	n/a	n/a
22	CTCF	chr12:8572343-8572432	GM12891	blood:	n/a	n/a
23	CTCF	chr12:8572339-8572426	GM12878	blood:	n/a	n/a
24	CTCF	chr12:8572237-8572391	A549	lung:	n/a	n/a
25	CTCF	chr12:8572222-8572474	GM19239	blood:	n/a	n/a
26	FOSL2	chr12:8572158-8572492	HepG2	liver:	n/a	n/a
27	GABPA	chr12:8559430-8559647	Hela-S3	cervix:	n/a	n/a
28	GABPA	chr12:8559462-8559663	HepG2	liver:	n/a	n/a
29	HEY1	chr12:8573011-8573129	HepG2	liver:	n/a	n/a
30	IRF4	chr12:8558399-8558655	GM12878	blood:	n/a	n/a
31	PBX3	chr12:8579279-8579450	GM12878	blood:	n/a	n/a
32	PBX3	chr12:8578295-8578471	GM12878	blood:	n/a	n/a
33	PBX3	chr12:8577350-8577526	GM12878	blood:	n/a	n/a
34	PBX3	chr12:8579524-8579941	GM12878	blood:	n/a	n/a
35	POLR2A	chr12:8582043-8582651	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr12:8583826-8583952	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr12:8579590-8579793	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr12:8582280-8582579	H1-hESC	embryonic stem cell:	n/a	n/a
39	RAD21	chr12:8594359-8594474	H1-hESC	embryonic stem cell:	n/a	n/a
40	RAD21	chr12:8594305-8594505	H1-hESC	embryonic stem cell:	n/a	n/a
41	SIX5	chr12:8558439-8558803	GM12878	blood:	n/a	n/a
42	SIX5	chr12:8558361-8558670	K562	blood:	n/a	n/a
43	SIX5	chr12:8558435-8558640	K562	blood:	n/a	n/a
44	SP1	chr12:8558433-8558646	GM12878	blood:	n/a	n/a
45	SP1	chr12:8572905-8573170	HepG2	liver:	n/a	n/a
46	SPI1	chr12:8584416-8584538	K562	blood:	n/a	n/a
47	SPI1	chr12:8562245-8562349	K562	blood:	n/a	n/a
48	TCF3	chr12:8579004-8579996	GM12878	blood:	n/a	n/a
49	USF1	chr12:8575553-8575664	HepG2	liver:	n/a	chr12:8575612-8575623
50	USF1	chr12:8558362-8558715	A549	lung:	n/a	chr12:8558580-8558591

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:8594653-8594703	PANC-1	pancreas:	n/a
2	chr12:8594653-8594703	PANC-1	pancreas:	n/a
3	chr12:8570210-8570260	HIPEpiC	eye:	n/a
4	chr12:8570268-8570318	HepG2	liver:	n/a
5	chr12:8571374-8571424	HEK293	kidney:	embryo
6	chr12:8575533-8575583	ProgFib	skin:	n/a
7	chr12:8576728-8576778	AoSMC	blood vessel:	n/a
8	chr12:8559779-8559829	HPAEpiC	pulmonary alveolar:	n/a
9	chr12:8575691-8575741	AoSMC	blood vessel:	n/a
10	chr12:8562937-8562987	HL-60	blood:	n/a
11	chr12:8575533-8575583	HMEC	breast:	n/a
12	chr12:8575533-8575583	MCF-7	breast:	n/a
13	chr12:8559701-8559751	MCF10A-Er-Src	breast:	n/a
14	chr12:8575139-8575189	IMR90	lung:	fetal
15	chr12:8562937-8562987	HCM	heart:	n/a
16	chr12:8594653-8594703	HRPEpiC	eye:	n/a
17	chr12:8559628-8559678	AG04449	skin:	fetal
18	chr12:8559779-8559829	IMR90	lung:	fetal
19	chr12:8559779-8559829	U87	brain:	n/a
20	chr12:8571374-8571424	Hepatocyte	liver:	n/a
21	chr12:8594653-8594703	GM19239	blood:	n/a
22	chr12:8562937-8562987	HEK293	kidney:	embryo
23	chr12:8575139-8575189	ProgFib	skin:	n/a
24	chr12:8575139-8575189	GM19239	blood:	n/a
25	chr12:8575691-8575741	AG10803	skin:	n/a
26	chr12:8571692-8571742	HCM	heart:	n/a
27	chr12:8570210-8570260	GM12878	blood:	n/a
28	chr12:8571692-8571742	SK-N-SH	brain:	n/a
29	chr12:8571374-8571424	RPTEC	kidney:	n/a
30	chr12:8562937-8562987	SK-N-MC	brain:	n/a
31	chr12:8559628-8559678	K562	blood:	n/a
32	chr12:8575533-8575583	AoSMC	blood vessel:	n/a
33	chr12:8559779-8559829	AG09319	gingival:	n/a
34	chr12:8571374-8571424	HMEC	breast:	n/a
35	chr12:8570268-8570318	AG10803	skin:	n/a
36	chr12:8575691-8575741	PrEC	prostate:	n/a
37	chr12:8559701-8559751	GM12892	blood:	n/a
38	chr12:8575691-8575741	HCT-116	colon:	n/a
39	chr12:8575691-8575741	Jurkat	blood:	n/a
40	chr12:8571692-8571742	ECC-1	luminal epithelium:	n/a
41	chr12:8576728-8576778	AG04450	lung:	fetal
42	chr12:8575533-8575583	HCPEpiC	choroid plexus:	n/a
43	chr12:8559701-8559751	AG09309	skin:	n/a
44	chr12:8575691-8575741	HEEpiC	esophagus:	n/a
45	chr12:8559628-8559678	SKMC	muscle:	n/a
46	chr12:8570210-8570260	CMK	blood:	n/a
47	chr12:8559628-8559678	MCF10A-Er-Src	breast:	n/a
48	chr12:8575533-8575583	Jurkat	blood:	n/a
49	chr12:8594653-8594703	HRCEpiC	kidney:	n/a
50	chr12:8571692-8571742	LNCaP	prostate:	n/a

No data

Variant related genes	Relation type
OR7E148P	TF binding region
OR7E149P	TF binding region
OR7E140P	TF binding region
ENSG00000266218	TF binding region
ENSG00000256136	TF binding region
OR7E148P	CpG island
OR7E149P	CpG island
OR7E140P	CpG island
ENSG00000266218	CpG island
ENSG00000256136	CpG island

Extended variants
information (count: 303 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:303 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202074052	chr12:8558487-8558488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs202020047	chr12:8558489-8558490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370226200	chr12:8558490-8558491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116745074	chr12:8558500-8558501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112499594	chr12:8558506-8558507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187435787	chr12:8558543-8558544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190515538	chr12:8558550-8558551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116516753	chr12:8558629-8558630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183096664	chr12:8558658-8558659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111666703	chr12:8558730-8558731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192923225	chr12:8558823-8558824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184342880	chr12:8558847-8558848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144809114	chr12:8558921-8558922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113464492	chr12:8558964-8558965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188032341	chr12:8558971-8558972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192435416	chr12:8558972-8558973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184801755	chr12:8558997-8558998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12306818	chr12:8559032-8559033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112913291	chr12:8559101-8559102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181394050	chr12:8559128-8559129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527479056	chr12:8559164-8559165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370637011	chr12:8559191-8559192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148555325	chr12:8559194-8559195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199874797	chr12:8559222-8559223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184341072	chr12:8559244-8559245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189554411	chr12:8559286-8559287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368588901	chr12:8559298-8559299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12315322	chr12:8559320-8559321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181561165	chr12:8559351-8559352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185882593	chr12:8559375-8559376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191131215	chr12:8559399-8559400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs180938727	chr12:8559415-8559416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113195114	chr12:8559443-8559444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186332243	chr12:8559480-8559481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375560632	chr12:8559556-8559557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74524928	chr12:8559796-8559797	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs79096981	chr12:8559810-8559811	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
38	rs369585723	chr12:8559816-8559817	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs80120141	chr12:8559821-8559822	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
40	rs189039882	chr12:8562248-8562249	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs181603780	chr12:8562251-8562252	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs377742566	chr12:8562268-8562269	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs200546952	chr12:8562279-8562280	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs185320799	chr12:8562309-8562310	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs189397006	chr12:8570228-8570229	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs191920248	chr12:8570235-8570236	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs371266310	chr12:8570241-8570242	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
48	rs374460399	chr12:8570278-8570279	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
49	rs368751871	chr12:8570315-8570316	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
50	rs113121835	chr12:8571418-8571419	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
early-passage human iPS cells	21368824	CNVD
Schizophrenia	20967226	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8555400-8559600	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr12:8592200-8593800	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr12:8593800-8594600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr12:8594400-8603400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr12:8594600-8601800	Weak transcription	Monocytes-CD14+_RO01746	blood

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