Variant report

Variant	esv3429028
Chromosome Location	chr14:104789407-104792605
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 184 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:184 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567038740	chr14:104789428-104789429	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs184699191	chr14:104789444-104789445	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs552771998	chr14:104789472-104789473	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs34199752	chr14:104789532-104789533	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs542014503	chr14:104789534-104789535	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs116859311	chr14:104789538-104789539	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs368971529	chr14:104789547-104789548	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs373216437	chr14:104789569-104789570	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs143417699	chr14:104789632-104789633	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs147547367	chr14:104789633-104789634	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs557355429	chr14:104789637-104789638	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs190030558	chr14:104789648-104789649	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs138516637	chr14:104789650-104789651	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs559575409	chr14:104789675-104789676	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs549742473	chr14:104789681-104789682	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs181789437	chr14:104789689-104789690	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs143998540	chr14:104789764-104789765	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs71419835	chr14:104789785-104789786	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs61997111	chr14:104789797-104789798	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs530676292	chr14:104789831-104789832	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs60725466	chr14:104789838-104789839	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs11454455	chr14:104789881-104789882	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs397725772	chr14:104789884-104789885	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs6576030	chr14:104789894-104789895	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs560578864	chr14:104789917-104789918	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs535589582	chr14:104789936-104789937	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs8008637	chr14:104789976-104789977	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs546716748	chr14:104789988-104789989	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs566444059	chr14:104789990-104789991	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs535227014	chr14:104790005-104790006	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150657500	chr14:104790016-104790017	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571987858	chr14:104790042-104790043	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185737130	chr14:104790043-104790044	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189238728	chr14:104790047-104790048	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577857118	chr14:104790048-104790049	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200232388	chr14:104790056-104790057	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574009565	chr14:104790063-104790064	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs180969028	chr14:104790072-104790073	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536239799	chr14:104790120-104790121	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs8008557	chr14:104790133-104790134	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs573209256	chr14:104790135-104790136	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544812636	chr14:104790142-104790143	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556496953	chr14:104790166-104790167	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs8009000	chr14:104790172-104790173	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs4900621	chr14:104790177-104790178	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs560841117	chr14:104790262-104790263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7146200	chr14:104790305-104790306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529744283	chr14:104790370-104790371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563578566	chr14:104790453-104790454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs61997112	chr14:104790501-104790502	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	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
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104786800-104793200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:104788400-104792000	Weak transcription	Spleen	Spleen
3	chr14:104788600-104790000	Enhancers	Brain Germinal Matrix	brain
4	chr14:104788800-104789600	Bivalent Enhancer	Fetal Stomach	stomach
5	chr14:104788800-104789600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
6	chr14:104789200-104790200	Enhancers	Fetal Brain Male	brain
7	chr14:104789200-104790800	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr14:104789400-104789600	Bivalent Enhancer	Colonic Mucosa	Colon
9	chr14:104789400-104789600	Enhancers	Fetal Intestine Small	intestine
10	chr14:104789400-104789800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr14:104789400-104790200	Enhancers	Duodenum Mucosa	Duodenum
12	chr14:104789400-104790600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:104789600-104790000	Enhancers	Colonic Mucosa	Colon
14	chr14:104789600-104790000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
15	chr14:104789800-104790200	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr14:104790000-104790200	Flanking Active TSS	Colonic Mucosa	Colon
17	chr14:104790000-104790400	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr14:104790200-104790400	Enhancers	Colonic Mucosa	Colon
19	chr14:104790200-104790600	Weak transcription	Fetal Brain Male	brain
20	chr14:104790600-104791000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:104790600-104791000	Bivalent/Poised TSS	Fetal Lung	lung
22	chr14:104790600-104791000	Enhancers	Pancreas	Pancrea
23	chr14:104790600-104791200	ZNF genes & repeats	Fetal Brain Male	brain
24	chr14:104791000-104792000	Weak transcription	Pancreas	Pancrea
25	chr14:104792000-104792200	Bivalent Enhancer	Fetal Kidney	kidney
26	chr14:104792000-104792200	Enhancers	Pancreas	Pancrea
27	chr14:104792000-104792400	Bivalent/Poised TSS	Fetal Lung	lung
28	chr14:104792000-104792400	ZNF genes & repeats	Spleen	Spleen
29	chr14:104792200-104792400	ZNF genes & repeats	Esophagus	oesophagus
30	chr14:104792400-104794800	Weak transcription	Spleen	Spleen

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