Variant report

Variant	esv3361078
Chromosome Location	chr12:12200900-12201151
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	ELK1	chr12:12201129-12201279	Hela-S3	cervix:	n/a	n/a
2	MYC	chr12:12200936-12200997	MCF-7	breast:	n/a	n/a
3	NR2C2	chr12:12200540-12201328	GM12878	blood:	n/a	n/a
4	SP2	chr12:12200681-12201205	HepG2	liver:	n/a	n/a
5	SUZ12	chr12:12200663-12201040	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
BCL2L14	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199991669	chr12:12200900-12200901	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs111171413	chr12:12200923-12200924	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs367565518	chr12:12200929-12200930	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs111211776	chr12:12200951-12200952	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs142589022	chr12:12200981-12200982	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs63233260	chr12:12200982-12200983	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs58782849	chr12:12200984-12200985	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs11054635	chr12:12200985-12200986	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs146747678	chr12:12200995-12200996	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs538498010	chr12:12200997-12200998	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs556958139	chr12:12201000-12201001	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs149420654	chr12:12201010-12201011	Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs569197318	chr12:12201015-12201016	Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs61131079	chr12:12201017-12201018	Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs536379908	chr12:12201023-12201024	Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs200108797	chr12:12201045-12201046	Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs2430594	chr12:12201047-12201048	Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs555023119	chr12:12201068-12201069	Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs150937774	chr12:12201071-12201072	Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs58351353	chr12:12201074-12201075	Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs143257485	chr12:12201097-12201098	Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs71761536	chr12:12201100-12201101	Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs146276061	chr12:12201101-12201102	Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs202016490	chr12:12201105-12201106	Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs563260306	chr12:12201120-12201121	Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs111545048	chr12:12201136-12201137	Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs373957315	chr12:12201137-12201138	Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs532230293	chr12:12201150-12201151	Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12199200-12209200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:12199400-12201000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:12200200-12201400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:12200200-12201600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:12200200-12201600	Enhancers	HepG2	liver
6	chr12:12200200-12213600	Weak transcription	Right Atrium	heart
7	chr12:12200600-12201000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:12200600-12201000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr12:12200600-12201000	Enhancers	Fetal Kidney	kidney
10	chr12:12200600-12201200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:12201000-12201200	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr12:12201000-12201800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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