Variant report

Variant	nsv832820
Chromosome Location	chr14:66310846-66362845
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	ATF1	chr14:66314008-66314464	K562	blood:	n/a	n/a
2	ATF1	chr14:66320115-66320484	K562	blood:	n/a	n/a
3	ATF1	chr14:66317185-66317521	K562	blood:	n/a	n/a
4	ATF3	chr14:66320157-66320475	K562	blood:	n/a	chr14:66320296-66320307 chr14:66320298-66320305 chr14:66320298-66320308 chr14:66320294-66320309 chr14:66320295-66320306 chr14:66320295-66320308 chr14:66320296-66320307 chr14:66320296-66320309 chr14:66320298-66320306
5	BHLHE40	chr14:66313859-66314064	GM12878	blood:	n/a	n/a
6	CEBPB	chr14:66320228-66320400	K562	blood:	n/a	chr14:66320339-66320350
7	CEBPB	chr14:66345946-66346364	IMR90	lung:	n/a	chr14:66346230-66346241
8	CEBPB	chr14:66317515-66317802	Hela-S3	cervix:	n/a	chr14:66317667-66317680
9	CEBPB	chr14:66320186-66320511	H1-hESC	embryonic stem cell:	n/a	chr14:66320339-66320350
10	CEBPB	chr14:66345952-66346423	HCT-116	colon:	n/a	chr14:66346230-66346241
11	CEBPB	chr14:66346015-66346278	A549	lung:	n/a	chr14:66346230-66346241
12	CEBPB	chr14:66339365-66339594	A549	lung:	n/a	n/a
13	CEBPB	chr14:66345934-66346376	A549	lung:	n/a	chr14:66346230-66346241
14	CEBPB	chr14:66346013-66346354	Hela-S3	cervix:	n/a	chr14:66346230-66346241
15	CEBPB	chr14:66320209-66320475	HepG2	liver:	n/a	chr14:66320339-66320350
16	CEBPB	chr14:66345859-66346462	A549	lung:	n/a	chr14:66346230-66346241
17	CEBPB	chr14:66320150-66320533	K562	blood:	n/a	chr14:66320339-66320350
18	CEBPB	chr14:66346030-66346333	MCF-7	breast:	n/a	chr14:66346230-66346241
19	CEBPB	chr14:66320146-66320480	K562	blood:	n/a	chr14:66320339-66320350
20	CTCF	chr14:66320380-66320530	AoAF	blood vessel:	n/a	n/a
21	CTCF	chr14:66347000-66347150	AG10803	skin:	n/a	n/a
22	CTCF	chr14:66332940-66333090	NHDF-neo	bronchial:	n/a	n/a
23	CTCF	chr14:66356720-66356870	MCF-7	breast:	n/a	n/a
24	CTCF	chr14:66340200-66340350	GM06990	blood:	n/a	n/a
25	CTCF	chr14:66344084-66344116	MCF-7	breast:	n/a	n/a
26	CTCF	chr14:66320480-66320630	MCF-7	breast:	n/a	n/a
27	CTCF	chr14:66360971-66361070	GM10248	blood:	n/a	n/a
28	CTCF	chr14:66320420-66320570	HepG2	liver:	n/a	n/a
29	CTCF	chr14:66320500-66320650	A549	lung:	n/a	n/a
30	CTCF	chr14:66343119-66343163	Medullo	brain:	n/a	n/a
31	CTCF	chr14:66332980-66333130	AG10803	skin:	n/a	chr14:66333092-66333099
32	CTCF	chr14:66320460-66320610	HPAF	blood vessel:	n/a	n/a
33	CTCF	chr14:66316600-66316750	GM12872	blood:	n/a	n/a
34	CTCF	chr14:66320480-66320630	GM12874	blood:	n/a	n/a
35	CTCF	chr14:66347020-66347170	GM12871	blood:	n/a	n/a
36	CTCF	chr14:66333000-66333150	AG10803	skin:	n/a	chr14:66333092-66333099
37	CTCF	chr14:66328332-66328399	Lung_OC	lung:	n/a	n/a
38	CTCF	chr14:66320420-66320570	HCT-116	colon:	n/a	n/a
39	CTCF	chr14:66358860-66358911	GM10266	blood:	n/a	n/a
40	CTCF	chr14:66320480-66320630	HEK293	kidney:	n/a	n/a
41	CTCF	chr14:66320460-66320610	NHDF-neo	bronchial:	n/a	n/a
42	CUX1	chr14:66313953-66313999	GM12878	blood:	n/a	n/a
43	CUX1	chr14:66320156-66320320	K562	blood:	n/a	n/a
44	E2F4	chr14:66344335-66344506	MCF10A-Er-Src	breast:	n/a	n/a
45	E2F4	chr14:66346059-66346464	MCF10A-Er-Src	breast:	n/a	n/a
46	E2F4	chr14:66312328-66312453	MCF10A-Er-Src	breast:	n/a	n/a
47	EBF1	chr14:66313736-66313978	GM12878	blood:	n/a	chr14:66313861-66313870 chr14:66313859-66313870 chr14:66313860-66313870
48	EBF1	chr14:66351262-66351509	GM12878	blood:	n/a	chr14:66351349-66351358 chr14:66351349-66351358 chr14:66351347-66351358 chr14:66351347-66351360
49	EBF1	chr14:66313705-66314012	GM12878	blood:	n/a	chr14:66313861-66313870 chr14:66313859-66313870 chr14:66313860-66313870
50	FOS	chr14:66317541-66317797	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:66306305..66308376-chr14:66309339..66311609,2	MCF-7	breast:
2	chr14:66332081..66334699-chr14:66335847..66337619,2	MCF-7	breast:
3	chr14:65879350..65881605-chr14:66312642..66315220,2	MCF-7	breast:
4	chr14:66314305..66316649-chr14:66316764..66318880,2	MCF-7	breast:
5	chr14:65878384..65879993-chr14:66335426..66337174,2	MCF-7	breast:
6	chr14:66314305..66316649-chr14:66316764..66318880,2	MCF-7	breast:
7	chr14:66359504..66360065-chr2:58426278..58426972,2	MCF-7	breast:
8	chr14:66353685..66356222-chr14:66365985..66367880,2	MCF-7	breast:
9	chr14:66332081..66334699-chr14:66335847..66337619,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FUT8-3	chr14:66313476-66313886	NONHSAT037398
2	lnc-CTD-2014B16.3.1-3	chr14:66346310-66347788	NONHSAT037399

Variant related genes	Relation type
ENSG00000258629	TF binding region
ENSG00000033170	chromatin interactions

Extended variants
information (count: 1643 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1643 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28378914	chr14:66310877-66310878	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571431494	chr14:66310906-66310907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114811798	chr14:66310909-66310910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142288380	chr14:66310924-66310925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567533571	chr14:66310967-66310968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184150155	chr14:66310975-66310976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77271442	chr14:66310991-66310992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569689978	chr14:66311010-66311011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75873495	chr14:66311022-66311023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558320854	chr14:66311030-66311031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188651671	chr14:66311174-66311175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540390677	chr14:66311207-66311208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142195749	chr14:66311214-66311215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs193240589	chr14:66311216-66311217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs80036161	chr14:66311222-66311223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573971485	chr14:66311323-66311324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185269376	chr14:66311335-66311336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79308400	chr14:66311349-66311350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551856722	chr14:66311371-66311372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545489548	chr14:66311372-66311373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146096521	chr14:66311380-66311381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527499432	chr14:66311412-66311413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547599429	chr14:66311419-66311420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148246590	chr14:66311463-66311464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77714306	chr14:66311468-66311469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549766875	chr14:66311495-66311496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141234842	chr14:66311576-66311577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188918366	chr14:66311618-66311619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191841368	chr14:66311620-66311621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565419778	chr14:66311638-66311639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533719237	chr14:66311639-66311640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534149472	chr14:66311648-66311649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553943586	chr14:66311666-66311667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574037120	chr14:66311711-66311712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183830018	chr14:66311794-66311795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188163076	chr14:66311797-66311798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368953293	chr14:66311810-66311811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs150768961	chr14:66311822-66311823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138006355	chr14:66311848-66311849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537665643	chr14:66311878-66311879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs180761526	chr14:66311894-66311895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555576034	chr14:66311924-66311925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs116476224	chr14:66311973-66311974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373313506	chr14:66311981-66311982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573975362	chr14:66312005-66312006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187462682	chr14:66312010-66312011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190500440	chr14:66312021-66312022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561071340	chr14:66312072-66312073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs75503896	chr14:66312209-66312210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547321950	chr14:66312238-66312239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	23393157	CNVD
Schizophrenia	23393157	CNVD
Seizures	23393157	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Cancer	20164919	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:338 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66302200-66313800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:66307400-66317400	Weak transcription	Spleen	Spleen
3	chr14:66307600-66312400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr14:66308200-66318600	Weak transcription	Pancreas	Pancrea
5	chr14:66309000-66311000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr14:66309000-66313400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr14:66309000-66313600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr14:66309200-66313400	Enhancers	Primary T cells from cord blood	blood
9	chr14:66309400-66311200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr14:66309400-66313000	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr14:66309400-66313600	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr14:66309400-66313600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr14:66309400-66319000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr14:66309600-66313000	Enhancers	Dnd41	blood
15	chr14:66309600-66313600	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr14:66309800-66313600	Enhancers	Primary T cells fromperipheralblood	blood
17	chr14:66309800-66313600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr14:66310000-66313600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr14:66310200-66311200	Enhancers	Brain Germinal Matrix	brain
20	chr14:66310400-66311400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr14:66310400-66312400	Weak transcription	Fetal Thymus	thymus
22	chr14:66310400-66317600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr14:66311200-66311600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr14:66311400-66311600	Enhancers	Fetal Brain Male	brain
25	chr14:66311400-66313600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr14:66311600-66313400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr14:66312400-66313600	Enhancers	Fetal Thymus	thymus
28	chr14:66312400-66319400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr14:66312800-66313800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr14:66312800-66314000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr14:66312800-66314000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:66312800-66314200	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr14:66313000-66313200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr14:66313000-66313600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr14:66313000-66313600	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr14:66313000-66316400	Enhancers	Primary hematopoietic stem cells	blood
37	chr14:66313000-66318200	Flanking Active TSS	Dnd41	blood
38	chr14:66313200-66313400	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr14:66313200-66313600	Enhancers	Primary B cells from cord blood	blood
40	chr14:66313200-66314000	Enhancers	Fetal Brain Female	brain
41	chr14:66313400-66313800	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr14:66313400-66314000	Enhancers	Thymus	Thymus
43	chr14:66313400-66314200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:66313400-66314400	Enhancers	Primary B cells from peripheral blood	blood
45	chr14:66313400-66314400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr14:66313400-66314600	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr14:66313400-66314600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr14:66313400-66314800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr14:66313600-66313800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr14:66313600-66313800	Flanking Active TSS	Fetal Thymus	thymus

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