Variant report

Variant	esv3369402
Chromosome Location	chr14:78300214-78301650
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183548422	chr14:78300224-78300225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186396310	chr14:78300298-78300299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4903654	chr14:78300314-78300315	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs17106436	chr14:78300329-78300330	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs570775534	chr14:78300331-78300332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539592263	chr14:78300344-78300345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541250288	chr14:78300365-78300366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549710661	chr14:78300366-78300367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139940698	chr14:78300368-78300369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537942709	chr14:78300369-78300370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191692980	chr14:78300372-78300373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149430762	chr14:78300378-78300379	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73319438	chr14:78300387-78300388	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs554018560	chr14:78300388-78300389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559924757	chr14:78300399-78300400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577473519	chr14:78300444-78300445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546338475	chr14:78300545-78300546	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11622333	chr14:78300551-78300552	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs183746673	chr14:78300586-78300587	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541540244	chr14:78300600-78300601	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150307245	chr14:78300601-78300602	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572614342	chr14:78300604-78300605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561799056	chr14:78300638-78300639	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527245437	chr14:78300676-78300677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs888637	chr14:78300684-78300685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564325521	chr14:78300724-78300725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533082912	chr14:78300725-78300726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371289055	chr14:78300800-78300801	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144862890	chr14:78300802-78300803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529111895	chr14:78300810-78300811	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548243395	chr14:78300850-78300851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188231392	chr14:78300899-78300900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148504317	chr14:78300952-78300953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145375893	chr14:78300960-78300961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569270427	chr14:78300980-78300981	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192927149	chr14:78300988-78300989	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539741723	chr14:78301085-78301086	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs73319440	chr14:78301119-78301120	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs2886166	chr14:78301179-78301180	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs548606706	chr14:78301185-78301186	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs79757229	chr14:78301238-78301239	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2017927	chr14:78301257-78301258	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs376341467	chr14:78301276-78301277	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552864070	chr14:78301327-78301328	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572173945	chr14:78301340-78301341	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs17825905	chr14:78301358-78301359	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563913705	chr14:78301365-78301366	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532988410	chr14:78301423-78301424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543329191	chr14:78301424-78301425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2003600	chr14:78301542-78301543	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:74)

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
Autism	22495311	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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Hepatocellular carcinoma	16750200	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Myelofibrosis	22110671	CNVD
Biliary cancer	19435499	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Intracranial aneurysm	16715129	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	22209245	CNVD
Prostate cancer	22553170	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78267200-78304200	Weak transcription	HSMMtube	muscle
2	chr14:78267200-78310800	Weak transcription	Esophagus	oesophagus
3	chr14:78274800-78316600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:78283200-78301800	Weak transcription	Small Intestine	intestine
5	chr14:78283600-78311000	Weak transcription	Hela-S3	cervix
6	chr14:78284200-78309400	Weak transcription	Brain Germinal Matrix	brain
7	chr14:78284200-78312600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr14:78284800-78300800	Weak transcription	Fetal Brain Male	brain
9	chr14:78284800-78305200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:78285800-78305800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr14:78286200-78301800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr14:78286200-78303000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr14:78286400-78300400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr14:78286400-78303000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr14:78286400-78305200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:78287000-78301400	Weak transcription	Right Ventricle	heart
17	chr14:78287000-78309400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr14:78287000-78309600	Weak transcription	Osteobl	bone
19	chr14:78289200-78301200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr14:78289200-78303400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:78289400-78300600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr14:78289400-78301000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:78289400-78301800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr14:78289400-78305000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr14:78289400-78305200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr14:78289400-78305200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr14:78289600-78301200	Weak transcription	Psoas Muscle	Psoas
28	chr14:78289600-78303800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr14:78289600-78304600	Weak transcription	Brain Anterior Caudate	brain
30	chr14:78289600-78305000	Weak transcription	Fetal Thymus	thymus
31	chr14:78289600-78307000	Weak transcription	Colonic Mucosa	Colon
32	chr14:78289600-78311600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr14:78289800-78306000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr14:78289800-78309600	Weak transcription	Fetal Brain Female	brain
35	chr14:78290200-78305600	Weak transcription	Colon Smooth Muscle	Colon
36	chr14:78292800-78305600	Weak transcription	Thymus	Thymus
37	chr14:78293000-78304200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr14:78293000-78304800	Weak transcription	Dnd41	blood
39	chr14:78293400-78331800	Weak transcription	Pancreas	Pancrea
40	chr14:78295200-78301400	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr14:78295200-78302000	Strong transcription	Primary T cells from cord blood	blood
42	chr14:78295600-78302200	Strong transcription	Liver	Liver
43	chr14:78296400-78304200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr14:78296600-78300800	Strong transcription	Duodenum Mucosa	Duodenum
45	chr14:78296600-78303000	Strong transcription	Adipose Nuclei	Adipose
46	chr14:78296800-78301000	Weak transcription	Fetal Stomach	stomach
47	chr14:78297000-78310600	Weak transcription	Spleen	Spleen
48	chr14:78297400-78304000	Weak transcription	Brain Hippocampus Middle	brain
49	chr14:78297600-78301000	Weak transcription	Lung	lung
50	chr14:78297600-78305800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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