Variant report

Variant	nsv983978
Chromosome Location	chr14:66649328-66666201
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	chr14:66662322-66662377	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr14:66663500-66663650	MCF-7	breast:	n/a	n/a
3	CTCF	chr14:66663460-66663610	NHEK	skin:	n/a	n/a
4	CTCF	chr14:66662344-66662399	A549	lung:	n/a	n/a
5	CTCF	chr14:66662345-66662360	MCF-7	breast:	n/a	n/a
6	CTCF	chr14:66663520-66663670	HepG2	liver:	n/a	n/a
7	CTCF	chr14:66663522-66663649	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr14:66663440-66663590	WERI-Rb-1	eye:	n/a	n/a
9	FOXA2	chr14:66655991-66656274	A549	lung:	n/a	n/a
10	MAFK	chr14:66661057-66661212	HepG2	liver:	n/a	chr14:66661120-66661131 chr14:66661115-66661130 chr14:66661120-66661131
11	MYC	chr14:66660782-66660826	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr14:66661745-66661786	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr14:66661677-66661788	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr14:66659341-66659485	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr14:66662287-66662410	MCF-7	breast:	n/a	n/a
16	POLR2A	chr14:66658116-66658252	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr14:66662112-66662377	MCF-7	breast:	n/a	n/a
18	POLR2A	chr14:66657781-66657824	MCF10A-Er-Src	breast:	n/a	n/a
19	RAD21	chr14:66663488-66663771	H1-hESC	embryonic stem cell:	n/a	n/a
20	RAD21	chr14:66662247-66662464	H1-hESC	embryonic stem cell:	n/a	n/a
21	SPI1	chr14:66652330-66652454	K562	blood:	n/a	n/a
22	STAT3	chr14:66657534-66657734	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:66658198..66660216-chr14:66664121..66666312,2	MCF-7	breast:
2	chr14:66658198..66660216-chr14:66664121..66666312,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000200860	TF binding region

Extended variants
information (count: 202 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:202 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189673309	chr14:66657602-66657603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs117220660	chr14:66657603-66657604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192971230	chr14:66657632-66657633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566948863	chr14:66657686-66657687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535528950	chr14:66657707-66657708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73283754	chr14:66657755-66657756	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs555768492	chr14:66657803-66657804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575516232	chr14:66657805-66657806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538113641	chr14:66657806-66657807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575861082	chr14:66657817-66657818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544473461	chr14:66657898-66657899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74433603	chr14:66657955-66657956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146310793	chr14:66657965-66657966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540829098	chr14:66657966-66657967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35999238	chr14:66657989-66657990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373500206	chr14:66658103-66658104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139512420	chr14:66658171-66658172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533326725	chr14:66658246-66658247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551957273	chr14:66658319-66658320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555031639	chr14:66658356-66658357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184692296	chr14:66658408-66658409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs202089649	chr14:66658446-66658447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113465853	chr14:66658461-66658462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188451365	chr14:66658462-66658463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551359961	chr14:66658475-66658476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565189832	chr14:66658479-66658480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527455366	chr14:66658486-66658487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547611415	chr14:66658500-66658501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs118179985	chr14:66658507-66658508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs117132445	chr14:66658547-66658548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549479336	chr14:66658560-66658561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567753913	chr14:66658571-66658572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569281046	chr14:66658576-66658577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563621481	chr14:66658616-66658617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77002445	chr14:66658655-66658656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558126208	chr14:66658676-66658677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs578224569	chr14:66658716-66658717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534125675	chr14:66658828-66658829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs180878346	chr14:66658869-66658870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77859155	chr14:66658886-66658887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543113141	chr14:66658907-66658908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562996056	chr14:66658947-66658948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150999455	chr14:66658990-66658991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs367942976	chr14:66662043-66662044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557182793	chr14:66662076-66662077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577106363	chr14:66662102-66662103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539618775	chr14:66662164-66662165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557651515	chr14:66662169-66662170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552919561	chr14:66662217-66662218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576330476	chr14:66662227-66662228	Weak transcription	n/a	n/a	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
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66657600-66659000	Enhancers	Fetal Lung	lung
2	chr14:66662000-66667800	Weak transcription	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links