Variant report

Variant	esv3346165
Chromosome Location	chr1:102119081-102119618
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:102118967..102119744-chr1:102285327..102286064,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182619160	chr1:102119093-102119094	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs542284794	chr1:102119100-102119101	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs185787773	chr1:102119149-102119150	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs572603065	chr1:102119174-102119175	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs546343779	chr1:102119192-102119193	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs564572466	chr1:102119203-102119204	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs576562305	chr1:102119218-102119219	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs190114141	chr1:102119224-102119225	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs182622619	chr1:102119265-102119266	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs116491267	chr1:102119317-102119318	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs537874805	chr1:102119328-102119329	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs74571166	chr1:102119333-102119334	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs12079191	chr1:102119338-102119339	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs113725280	chr1:102119347-102119348	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs551993649	chr1:102119417-102119418	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs187616983	chr1:102119436-102119437	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs537698071	chr1:102119459-102119460	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs549938707	chr1:102119488-102119489	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs192150580	chr1:102119548-102119549	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs535727329	chr1:102119604-102119605	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554082769	chr1:102119612-102119613	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572490296	chr1:102119615-102119616	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539794877	chr1:102119617-102119618	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:102118000-102122600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:102118200-102119200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr1:102118800-102119200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:102118800-102119200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr1:102118800-102119200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr1:102118800-102121200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr1:102119000-102119600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:102119000-102119600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:102119000-102119800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr1:102119000-102119800	Enhancers	HMEC	breast
11	chr1:102119200-102119400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr1:102119200-102119400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr1:102119200-102119400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:102119200-102119600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr1:102119200-102119600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr1:102119200-102119600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr1:102119200-102119600	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr1:102119200-102119600	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr1:102119200-102119800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr1:102119200-102119800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:102119200-102120400	Enhancers	H1 Cell Line	embryonic stem cell
22	chr1:102119400-102119600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr1:102119400-102119600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr1:102119600-102119800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr1:102119600-102119800	Enhancers	H9 Cell Line	embryonic stem cell
26	chr1:102119600-102119800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr1:102119600-102119800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr1:102119600-102119800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr1:102119600-102119800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr1:102119600-102120200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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