Variant report

Variant	esv3423863
Chromosome Location	chr14:64799346-64799807
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:64799661..64807761-chr14:64967157..64973754,20	MCF-7	breast:
2	chr14:64798356..64802907-chr14:64803175..64806318,9	K562	blood:
3	chr14:64799200..64802907-chr14:64803448..64806295,4	K562	blood:
4	chr14:64790771..64792766-chr14:64798246..64800317,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000126804	chromatin interactions
ENSG00000214770	chromatin interactions
ENSG00000140009	chromatin interactions
ENSG00000089775	chromatin interactions

Extended variants
information (count: 28 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2987975	chr14:64799346-64799347	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373091915	chr14:64799348-64799349	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs12323665	chr14:64799385-64799386	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs556658100	chr14:64799395-64799396	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs183778024	chr14:64799455-64799456	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs545004500	chr14:64799472-64799473	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs61984443	chr14:64799475-64799476	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs565203466	chr14:64799481-64799482	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs527964489	chr14:64799532-64799533	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs541353588	chr14:64799537-64799538	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs140683930	chr14:64799541-64799542	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs530361657	chr14:64799586-64799587	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs150273193	chr14:64799592-64799593	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs111414010	chr14:64799617-64799618	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs569738905	chr14:64799620-64799621	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs370823529	chr14:64799628-64799629	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs532114470	chr14:64799636-64799637	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs552215632	chr14:64799654-64799655	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs565712058	chr14:64799658-64799659	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs189347006	chr14:64799698-64799699	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs530995450	chr14:64799707-64799708	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs547706994	chr14:64799722-64799723	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs374496392	chr14:64799751-64799752	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs192561501	chr14:64799752-64799753	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs185204258	chr14:64799768-64799769	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs538782989	chr14:64799770-64799771	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs373076691	chr14:64799790-64799791	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs150080570	chr14:64799797-64799798	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
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	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Leukemia	18688285	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Autism	22543975	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64792000-64803800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:64792000-64803800	Weak transcription	Osteobl	bone
3	chr14:64794000-64803200	Weak transcription	Hela-S3	cervix
4	chr14:64798600-64803800	Weak transcription	HMEC	breast
5	chr14:64799000-64803800	Weak transcription	HepG2	liver

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