Variant report

Variant	esv3323686
Chromosome Location	chr12:9214285-9215983
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	CEBPB	chr12:9215449-9215678	HepG2	liver:	n/a	chr12:9215597-9215610 chr12:9215597-9215610 chr12:9215597-9215608
2	CTCF	chr12:9215676-9215734	Lung_OC	lung:	n/a	n/a
3	POLR2A	chr12:9215746-9218063	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr12:9214376-9214395	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr12:9215588-9215621	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:9213363..9214954-chr12:9215325..9217533,2	MCF-7	breast:
2	chr12:8848507..8851298-chr12:9215870..9217959,3	MCF-7	breast:
3	chr12:9215493..9217658-chr12:9271346..9273980,2	MCF-7	breast:
4	chr12:9213127..9215048-chr12:9215449..9217548,2	MCF-7	breast:
5	chr12:9213127..9215048-chr12:9215449..9217548,2	MCF-7	breast:
6	chr12:9213363..9214954-chr12:9215325..9217533,2	MCF-7	breast:
7	chr12:9215875..9217619-chr12:9231750..9233292,2	MCF-7	breast:
8	chr12:9215856..9217597-chr12:9482273..9484056,2	MCF-7	breast:
9	chr12:9100379..9103293-chr12:9215519..9218225,4	MCF-7	breast:

Variant related genes	Relation type
A2M-AS1	TF binding region
ENSG00000139187	chromatin interactions
ENSG00000003056	chromatin interactions
ENSG00000166532	chromatin interactions
ENSG00000175899	chromatin interactions

Extended variants
information (count: 35 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190586952	chr12:9214339-9214340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142615043	chr12:9214469-9214470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114266603	chr12:9214501-9214502	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139899565	chr12:9214587-9214588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183137455	chr12:9214613-9214614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573298058	chr12:9214646-9214647	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7310921	chr12:9214659-9214660	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs112808050	chr12:9214843-9214844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7294587	chr12:9214909-9214910	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369481006	chr12:9215008-9215009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188126918	chr12:9215049-9215050	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576050472	chr12:9215121-9215122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190959673	chr12:9215134-9215135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs71453665	chr12:9215190-9215191	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150859293	chr12:9215280-9215281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373936814	chr12:9215325-9215326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139305849	chr12:9215344-9215345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182765878	chr12:9215395-9215396	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71447551	chr12:9215399-9215400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71447552	chr12:9215415-9215416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376330298	chr12:9215506-9215507	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs55924716	chr12:9215534-9215535	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs372640514	chr12:9215545-9215546	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs561323903	chr12:9215655-9215656	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs187866648	chr12:9215656-9215657	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs149994776	chr12:9215659-9215660	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs58565807	chr12:9215699-9215700	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs142642222	chr12:9215709-9215710	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs371716012	chr12:9215823-9215824	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs144898335	chr12:9215877-9215878	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs192349875	chr12:9215878-9215879	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs574933682	chr12:9215929-9215930	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs373597170	chr12:9215931-9215932	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs184992060	chr12:9215946-9215947	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs147934746	chr12:9215978-9215979	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9178400-9216400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:9199600-9216200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr12:9199800-9216200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:9199800-9216200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:9199800-9216600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:9200000-9216000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr12:9200000-9216200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr12:9200000-9216200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr12:9200000-9216200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:9202000-9216600	Weak transcription	Left Ventricle	heart
11	chr12:9202200-9216200	Weak transcription	Primary T cells from cord blood	blood
12	chr12:9202200-9216200	Weak transcription	Adipose Nuclei	Adipose
13	chr12:9202400-9216000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:9204200-9216800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:9211200-9216600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:9213600-9216200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr12:9214200-9214600	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr12:9214600-9216800	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr12:9215600-9216200	Enhancers	Hela-S3	cervix
20	chr12:9215800-9216000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:9215800-9216400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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