Variant report

Variant	esv3386382
Chromosome Location	chr14:32830429-32831802
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570531450	chr14:32830456-32830457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539196833	chr14:32830495-32830496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149575988	chr14:32830560-32830561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572726401	chr14:32830578-32830579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144342762	chr14:32830595-32830596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10151983	chr14:32830722-32830723	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs10151749	chr14:32830725-32830726	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs10151990	chr14:32830746-32830747	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs368542262	chr14:32830752-32830753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557940050	chr14:32830769-32830770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114030951	chr14:32830849-32830850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201228607	chr14:32830922-32830923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs58625904	chr14:32830938-32830939	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs541169380	chr14:32830939-32830940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191971577	chr14:32830949-32830950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533937984	chr14:32831013-32831014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369336219	chr14:32831017-32831018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559119343	chr14:32831024-32831025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10483397	chr14:32831040-32831041	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs72666159	chr14:32831044-32831045	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs148761078	chr14:32831065-32831066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7492831	chr14:32831095-32831096	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs183136480	chr14:32831100-32831101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556467039	chr14:32831127-32831128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570391153	chr14:32831176-32831177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187105965	chr14:32831202-32831203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577998442	chr14:32831297-32831298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566258502	chr14:32831313-32831314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141586166	chr14:32831351-32831352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191927210	chr14:32831383-32831384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554939222	chr14:32831439-32831440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576678981	chr14:32831497-32831498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114433569	chr14:32831524-32831525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147542802	chr14:32831566-32831567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182294631	chr14:32831568-32831569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140172658	chr14:32831599-32831600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559455406	chr14:32831671-32831672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574265176	chr14:32831674-32831675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147771260	chr14:32831706-32831707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371376439	chr14:32831727-32831728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs78645700	chr14:32831734-32831735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139096325	chr14:32831771-32831772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560333161	chr14:32831776-32831777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Endometrioid adenocarcinoma	16974079	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	20955586	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32797200-32831600	Weak transcription	Right Atrium	heart
2	chr14:32819200-32834200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:32822400-32834400	Weak transcription	Fetal Brain Female	brain
4	chr14:32828000-32835200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr14:32828200-32830600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr14:32828200-32830600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr14:32828200-32830600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr14:32828200-32831000	Weak transcription	Brain Angular Gyrus	brain
9	chr14:32828200-32831800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr14:32828200-32833400	Weak transcription	Brain Germinal Matrix	brain
11	chr14:32829000-32831400	Weak transcription	Brain Hippocampus Middle	brain
12	chr14:32830400-32830800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr14:32830400-32831000	Enhancers	Brain Substantia Nigra	brain
14	chr14:32830400-32831400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:32830400-32831600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr14:32830400-32835000	Enhancers	Brain Anterior Caudate	brain
17	chr14:32830600-32831000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr14:32830600-32831600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:32830600-32833400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr14:32830600-32840400	Enhancers	Brain Cingulate Gyrus	brain
21	chr14:32830600-32843800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr14:32830800-32831600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr14:32830800-32835600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr14:32831000-32831400	Weak transcription	Brain Substantia Nigra	brain
25	chr14:32831000-32831600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr14:32831000-32835400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr14:32831000-32838000	Enhancers	Brain Angular Gyrus	brain
28	chr14:32831400-32834400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:32831400-32835000	Enhancers	Brain Hippocampus Middle	brain
30	chr14:32831400-32835200	Enhancers	Brain Substantia Nigra	brain
31	chr14:32831600-32833200	Enhancers	Right Atrium	heart
32	chr14:32831600-32834200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr14:32831600-32834600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr14:32831600-32834800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr14:32831600-32835200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr14:32831800-32832000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:32831800-32832200	Enhancers	Left Ventricle	heart
38	chr14:32831800-32835200	Enhancers	Brain Inferior Temporal Lobe	brain

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