Variant report

Variant	esv3449053
Chromosome Location	chr14:55676424-55678747
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	chr14:55678337..55681530-chr14:55738296..55741228,5	K562	blood:
2	chr14:55678554..55682853-chr14:55737022..55740091,3	K562	blood:

Variant related genes	Relation type
ENSG00000258413	chromatin interactions
ENSG00000178974	chromatin interactions

Extended variants
information (count: 45 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75030357	chr14:55677644-55677645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556752350	chr14:55677647-55677648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143485035	chr14:55677653-55677654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528172513	chr14:55677710-55677711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539207400	chr14:55677735-55677736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559298290	chr14:55677765-55677766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542155743	chr14:55677779-55677780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182580330	chr14:55677780-55677781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143090248	chr14:55677784-55677785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368842984	chr14:55677839-55677840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536100864	chr14:55677854-55677855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111330830	chr14:55677876-55677877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113619131	chr14:55677937-55677938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141167874	chr14:55677938-55677939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557848370	chr14:55677940-55677941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373503345	chr14:55677983-55677984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs56867845	chr14:55678001-55678002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4040064	chr14:55678088-55678089	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs534021518	chr14:55678097-55678098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs56386851	chr14:55678161-55678162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575101898	chr14:55678162-55678163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11282490	chr14:55678165-55678166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555489606	chr14:55678193-55678194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs58349068	chr14:55678198-55678199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs398043771	chr14:55678221-55678222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574247149	chr14:55678222-55678223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541669265	chr14:55678225-55678226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557186819	chr14:55678227-55678228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575470932	chr14:55678247-55678248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150794984	chr14:55678286-55678287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564055833	chr14:55678312-55678313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528131807	chr14:55678331-55678332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74700973	chr14:55678334-55678335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561768105	chr14:55678376-55678377	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs116081762	chr14:55678395-55678396	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs77305556	chr14:55678442-55678443	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs550906160	chr14:55678454-55678455	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs80272646	chr14:55678507-55678508	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs139457021	chr14:55678530-55678531	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs374054795	chr14:55678557-55678558	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs55736245	chr14:55678659-55678660	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs543133833	chr14:55678664-55678665	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs552094704	chr14:55678669-55678670	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs189990233	chr14:55678701-55678702	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs533935850	chr14:55678707-55678708	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Endometrioid adenocarcinoma	16974079	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
Hodgkin''s lymphoma	17606441	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	16397240	CNVD
Breast cancer	21633010	CNVD
Breast cancer	22032731	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55677600-55679800	Weak transcription	Right Atrium	heart
2	chr14:55678600-55679000	Enhancers	Fetal Heart	heart

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