Variant report

Variant	esv3422519
Chromosome Location	chr14:104657249-104660047
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:104649230..104653061-chr14:104657794..104660199,5	MCF-7	breast:
2	chr14:104654038..104657382-chr14:104659420..104664106,7	MCF-7	breast:
3	chr14:104654038..104657382-chr14:104659420..104664106,7	MCF-7	breast:
4	chr14:104641001..104643795-chr14:104659198..104661496,2	MCF-7	breast:
5	chr14:104655728..104658058-chr14:104665902..104667845,2	MCF-7	breast:

Extended variants
information (count: 137 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565751232	chr14:104657255-104657256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73360271	chr14:104657299-104657300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570341542	chr14:104657328-104657329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535732364	chr14:104657341-104657342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555957320	chr14:104657396-104657397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572392722	chr14:104657487-104657488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541014032	chr14:104657573-104657574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139819754	chr14:104657600-104657601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577689982	chr14:104657642-104657643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543230507	chr14:104657718-104657719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182363038	chr14:104657722-104657723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs947006	chr14:104657760-104657761	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs57482160	chr14:104657762-104657763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559589150	chr14:104657801-104657802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528125690	chr14:104657822-104657823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186751984	chr14:104657823-104657824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149364852	chr14:104657830-104657831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112631353	chr14:104657831-104657832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530584846	chr14:104657861-104657862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550403760	chr14:104657878-104657879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570102553	chr14:104657879-104657880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567497247	chr14:104657887-104657888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536042972	chr14:104657896-104657897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536047654	chr14:104657904-104657905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191150404	chr14:104657905-104657906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566342930	chr14:104657914-104657915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546522897	chr14:104657920-104657921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534721689	chr14:104657927-104657928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs60651195	chr14:104657928-104657929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577725431	chr14:104658025-104658026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543464847	chr14:104658030-104658031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147463079	chr14:104658062-104658063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573795309	chr14:104658098-104658099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12892055	chr14:104658127-104658128	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs574288907	chr14:104658233-104658234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573146747	chr14:104658271-104658272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139835551	chr14:104658272-104658273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564825313	chr14:104658291-104658292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530622302	chr14:104658295-104658296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550448932	chr14:104658304-104658305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561026766	chr14:104658309-104658310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145342080	chr14:104658338-104658339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549527990	chr14:104658342-104658343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77643529	chr14:104658345-104658346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534947617	chr14:104658354-104658355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147649361	chr14:104658376-104658377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577917594	chr14:104658438-104658439	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs148690334	chr14:104658439-104658440	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs116546889	chr14:104658522-104658523	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs557208855	chr14:104658523-104658524	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	17426248	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104643800-104662200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:104652600-104660400	Weak transcription	Spleen	Spleen
3	chr14:104655000-104661400	Weak transcription	Fetal Brain Male	brain
4	chr14:104656200-104658400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:104656200-104662200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:104656200-104669200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:104657200-104665400	Weak transcription	Fetal Brain Female	brain
8	chr14:104657400-104657800	Enhancers	Liver	Liver
9	chr14:104658000-104658200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:104658400-104659000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:104658800-104659200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr14:104659000-104660400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links