Variant report

Variant	nsv977476
Chromosome Location	chr14:64201124-64203008
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:64201902-64201962	Kidney_OC	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:64106963..64108650-chr14:64199883..64202307,2	MCF-7	breast:
2	chr14:64116599..64118702-chr14:64200894..64203487,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258778	TF binding region
RNU7-116P	TF binding region
ENSG00000140006	chromatin interactions
ENSG00000200693	chromatin interactions

Extended variants
information (count: 79 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558521886	chr14:64201128-64201129	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs7155345	chr14:64201134-64201135	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs533735973	chr14:64201135-64201136	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs544347967	chr14:64201159-64201160	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs150470990	chr14:64201166-64201167	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs573649541	chr14:64201170-64201171	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs192218286	chr14:64201195-64201196	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs7154057	chr14:64201228-64201229	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs575868887	chr14:64201232-64201233	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs184413328	chr14:64201291-64201292	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs570931876	chr14:64201316-64201317	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs564880470	chr14:64201332-64201333	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs369852010	chr14:64201354-64201355	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs527592068	chr14:64201359-64201360	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs71120277	chr14:64201382-64201383	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs533411659	chr14:64201407-64201408	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs546930232	chr14:64201409-64201410	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs373366299	chr14:64201410-64201411	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs114449030	chr14:64201412-64201413	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs10136952	chr14:64201461-64201462	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs529360134	chr14:64201470-64201471	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs549527064	chr14:64201511-64201512	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs7154795	chr14:64201537-64201538	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs376162332	chr14:64201551-64201552	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs112596743	chr14:64201562-64201563	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs571870255	chr14:64201592-64201593	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs370893537	chr14:64201595-64201596	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs535634361	chr14:64201621-64201622	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs534241553	chr14:64201625-64201626	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs181377744	chr14:64201665-64201666	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs573586309	chr14:64201675-64201676	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs56298293	chr14:64201701-64201702	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs184333930	chr14:64201745-64201746	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs189613946	chr14:64201755-64201756	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs575827456	chr14:64201845-64201846	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs544755896	chr14:64201883-64201884	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs149606158	chr14:64201913-64201914	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs572267315	chr14:64201926-64201927	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs540989044	chr14:64201947-64201948	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs560515914	chr14:64201966-64201967	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs8021563	chr14:64202014-64202015	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
42	rs543133183	chr14:64202022-64202023	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs144350179	chr14:64202031-64202032	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs531853685	chr14:64202039-64202040	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs551970508	chr14:64202053-64202054	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs528800994	chr14:64202055-64202056	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs571769326	chr14:64202081-64202082	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs140950226	chr14:64202093-64202094	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs181874171	chr14:64202123-64202124	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs539501114	chr14:64202168-64202169	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64196800-64203600	Weak transcription	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links