Variant report

Variant	nsv565376
Chromosome Location	chr14:84612088-84644822
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	BCL11A	chr14:84638802-84639015	GM12878	blood:	n/a	n/a
2	BHLHE40	chr14:84638838-84639014	HepG2	liver:	n/a	n/a
3	CEBPB	chr14:84625304-84625374	H1-hESC	embryonic stem cell:	n/a	chr14:84625339-84625350 chr14:84625339-84625352 chr14:84625339-84625350
4	CEBPB	chr14:84631704-84631947	IMR90	lung:	n/a	chr14:84631843-84631854
5	CEBPB	chr14:84631734-84631974	HepG2	liver:	n/a	chr14:84631843-84631854
6	CEBPB	chr14:84631710-84631972	A549	lung:	n/a	chr14:84631843-84631854
7	CTCF	chr14:84615500-84615650	HRPEpiC	eye:	n/a	n/a
8	CTCF	chr14:84641252-84641319	Medullo	brain:	n/a	n/a
9	CTCF	chr14:84622020-84622170	HPF	lung:	n/a	n/a
10	CTCF	chr14:84633030-84633050	GM13976	blood:	n/a	n/a
11	CTCF	chr14:84618602-84618659	GM20000	blood:	n/a	n/a
12	E2F4	chr14:84622675-84622875	MCF10A-Er-Src	breast:	n/a	n/a
13	E2F4	chr14:84616193-84616393	MCF10A-Er-Src	breast:	n/a	n/a
14	E2F4	chr14:84623435-84623577	MCF10A-Er-Src	breast:	n/a	n/a
15	EP300	chr14:84633184-84633997	SK-N-SH	brain:	n/a	n/a
16	EP300	chr14:84633446-84633674	SK-N-SH_RA	brain:	n/a	n/a
17	FOS	chr14:84629275-84629366	MCF10A-Er-Src	breast:	n/a	n/a
18	FOXP2	chr14:84628974-84629394	SK-N-MC	brain:	n/a	n/a
19	HEY1	chr14:84638840-84639089	HepG2	liver:	n/a	n/a
20	JUN	chr14:84635545-84636025	K562	blood:	n/a	n/a
21	JUND	chr14:84638874-84638976	HepG2	liver:	n/a	n/a
22	MAFF	chr14:84622358-84622416	K562	blood:	n/a	n/a
23	POLR2A	chr14:84614104-84614289	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr14:84614679-84614879	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr14:84619065-84619083	MCF-7	breast:	n/a	n/a
26	POLR2A	chr14:84624305-84624320	GM12878	blood:	n/a	n/a
27	POLR2A	chr14:84615784-84615859	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr14:84638788-84638911	GM12878	blood:	n/a	n/a
29	POLR2A	chr14:84619089-84619094	MCF-7	breast:	n/a	n/a
30	POLR2A	chr14:84639731-84639839	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr14:84619050-84619060	MCF-7	breast:	n/a	n/a
32	POLR2A	chr14:84618900-84619047	MCF-7	breast:	n/a	n/a
33	POLR2A	chr14:84628309-84628391	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr14:84613943-84614372	H1-neurons	neurons:	n/a	n/a
35	POLR2A	chr14:84614042-84614313	H1-neurons	neurons:	n/a	n/a
36	POLR2A	chr14:84618879-84619079	MCF-7	breast:	n/a	n/a
37	POLR2A	chr14:84617143-84617168	MCF-7	breast:	n/a	n/a
38	POLR2A	chr14:84630601-84630606	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr14:84628872-84629542	SK-N-MC	brain:	n/a	n/a
40	POLR2A	chr14:84620192-84620318	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr14:84639674-84639727	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr14:84624033-84624284	GM12878	blood:	n/a	n/a
43	RXRA	chr14:84638820-84639035	GM12878	blood:	n/a	n/a
44	SPI1	chr14:84635421-84635615	HL-60	blood:	n/a	n/a
45	SPI1	chr14:84641012-84641332	HL-60	blood:	n/a	chr14:84641157-84641170 chr14:84641156-84641169 chr14:84641157-84641170
46	STAT3	chr14:84612017-84612196	MCF10A-Er-Src	breast:	n/a	n/a
47	STAT3	chr14:84616526-84616726	MCF10A-Er-Src	breast:	n/a	n/a
48	STAT3	chr14:84636083-84636235	MCF10A-Er-Src	breast:	n/a	n/a
49	STAT3	chr14:84620207-84620291	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT3	chr14:84613200-84613318	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-497E19.2.1-11	chr14:84638664-84638970	NONHSAT038100
2	lnc-RP11-497E19.2.1-10	chr14:84639185-84639950	NONHSAT038101
3	lnc-RP11-497E19.2.1-9	chr14:84640135-84641854	NONHSAT038102
4	lnc-RP11-497E19.2.1-8	chr14:84642763-84643432	NONHSAT038103
5	lnc-RP11-497E19.2.1-11	chr14:84637062-84637224	NONHSAT038100
6	lnc-RP11-497E19.2.1-11	chr14:84637711-84637947	NONHSAT038100

Variant related genes	Relation type
ENSG00000258923	TF binding region
ENSG00000259012	TF binding region
ENSG00000258762	TF binding region

Extended variants
information (count: 718 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:718 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556607716	chr14:84613226-84613227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542276772	chr14:84613272-84613273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563523074	chr14:84613276-84613277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4904160	chr14:84613297-84613298	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs140249776	chr14:84613358-84613359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371794162	chr14:84613360-84613361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564708795	chr14:84613379-84613380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs4904161	chr14:84613382-84613383	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs546771883	chr14:84613400-84613401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371122088	chr14:84615632-84615633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74847337	chr14:84615667-84615668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190894209	chr14:84615757-84615758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1031786	chr14:84615814-84615815	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs571376656	chr14:84615850-84615851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538568862	chr14:84615858-84615859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562227660	chr14:84615897-84615898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547255399	chr14:84615925-84615926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75202967	chr14:84615938-84615939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112169430	chr14:84615941-84615942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs66752331	chr14:84615958-84615959	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs183091855	chr14:84615965-84615966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139715668	chr14:84615974-84615975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538333838	chr14:84616000-84616001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371850074	chr14:84616007-84616008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1564057	chr14:84616018-84616019	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs77366838	chr14:84616042-84616043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74497549	chr14:84616084-84616085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572752455	chr14:84616089-84616090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187083302	chr14:84616093-84616094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537989698	chr14:84616112-84616113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6574774	chr14:84616115-84616116	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs149970028	chr14:84616141-84616142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192316151	chr14:84616162-84616163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115406904	chr14:84616210-84616211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377131126	chr14:84616227-84616228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116094693	chr14:84616236-84616237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547169359	chr14:84616256-84616257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565672512	chr14:84616281-84616282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12434328	chr14:84616302-84616303	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs369506956	chr14:84616376-84616377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549011717	chr14:84616394-84616395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567603567	chr14:84616395-84616396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371909777	chr14:84616400-84616401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7160548	chr14:84616417-84616418	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs111459601	chr14:84616437-84616438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553657184	chr14:84616441-84616442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144997187	chr14:84616457-84616458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79264775	chr14:84616490-84616491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183031525	chr14:84616500-84616501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554389470	chr14:84616585-84616586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:84613200-84613400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr14:84615600-84615800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr14:84615800-84618600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr14:84618600-84618800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr14:84618600-84618800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:84618600-84619200	Enhancers	Spleen	Spleen
7	chr14:84618800-84619000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:84619000-84619800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:84620200-84620400	Enhancers	Fetal Heart	heart
10	chr14:84620400-84621400	Weak transcription	Fetal Heart	heart
11	chr14:84621400-84621800	Enhancers	Fetal Heart	heart
12	chr14:84628400-84629200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:84628400-84630200	Enhancers	Fetal Heart	heart
14	chr14:84628800-84629400	Enhancers	Left Ventricle	heart
15	chr14:84629000-84629400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:84630200-84632000	Weak transcription	Fetal Heart	heart
17	chr14:84632000-84632200	Enhancers	Fetal Heart	heart
18	chr14:84632200-84632600	Weak transcription	Fetal Heart	heart
19	chr14:84632600-84634800	Enhancers	Fetal Heart	heart
20	chr14:84634800-84635400	Weak transcription	Fetal Heart	heart
21	chr14:84635400-84635600	Enhancers	Fetal Heart	heart
22	chr14:84643400-84643800	Enhancers	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links