Variant report

Variant	nsv524652
Chromosome Location	chr14:32241873-32267323
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:163)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:163 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:32256749-32256838	K562	blood:	n/a	n/a
2	ARID3A	chr14:32256644-32256965	HepG2	liver:	n/a	n/a
3	ATF3	chr14:32256603-32256876	K562	blood:	n/a	n/a
4	CBX3	chr14:32250769-32251134	HCT-116	colon:	n/a	n/a
5	CEBPB	chr14:32243986-32244377	HepG2	liver:	n/a	chr14:32244239-32244250
6	CEBPB	chr14:32244108-32244346	A549	lung:	n/a	chr14:32244239-32244250
7	CEBPB	chr14:32244074-32244421	IMR90	lung:	n/a	chr14:32244239-32244250
8	CTCF	chr14:32256687-32256936	IMR90	lung:	n/a	n/a
9	CTCF	chr14:32256700-32256850	HUVEC	blood vessel:	n/a	n/a
10	CTCF	chr14:32256740-32256890	HCFaa	heart:	n/a	n/a
11	CTCF	chr14:32256680-32256830	HEK293	kidney:	n/a	n/a
12	CTCF	chr14:32256766-32256865	LNCaP	prostate:	n/a	n/a
13	CTCF	chr14:32256720-32256870	SAEC	small airway:	n/a	n/a
14	CTCF	chr14:32256740-32256890	HMF	breast:	n/a	n/a
15	CTCF	chr14:32256700-32256850	HCPEpiC	choroid plexus:	n/a	n/a
16	CTCF	chr14:32256702-32256891	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr14:32256760-32256910	HPF	lung:	n/a	n/a
18	CTCF	chr14:32256726-32256884	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr14:32257760-32257910	RPTEC	kidney:	n/a	n/a
20	CTCF	chr14:32256720-32256870	HBMEC	blood vessel:	n/a	n/a
21	CTCF	chr14:32257620-32257770	Caco-2	colon:	n/a	n/a
22	CTCF	chr14:32256761-32256845	GM12878	blood:	n/a	n/a
23	CTCF	chr14:32256680-32256830	MCF-7	breast:	n/a	n/a
24	CTCF	chr14:32256660-32256810	Caco-2	colon:	n/a	n/a
25	CTCF	chr14:32256613-32256961	K562	blood:	n/a	n/a
26	CTCF	chr14:32256789-32256858	LNCaP	prostate:	n/a	n/a
27	CTCF	chr14:32256740-32256890	BE2_C	brain:	n/a	n/a
28	CTCF	chr14:32257720-32257870	Caco-2	colon:	n/a	n/a
29	CTCF	chr14:32256700-32256897	MCF-7	breast:	n/a	n/a
30	CTCF	chr14:32256751-32256819	Pancreas_OC	pancreas:	n/a	n/a
31	CTCF	chr14:32256687-32256904	MCF-7	breast:	n/a	n/a
32	CTCF	chr14:32256660-32256810	WI-38	lung:	n/a	n/a
33	CTCF	chr14:32256680-32256830	BE2_C	brain:	n/a	n/a
34	CTCF	chr14:32256780-32256930	HCPEpiC	choroid plexus:	n/a	n/a
35	CTCF	chr14:32256787-32256845	A549	lung:	n/a	n/a
36	CTCF	chr14:32256700-32256850	K562	blood:	n/a	n/a
37	CTCF	chr14:32256680-32256830	RPTEC	kidney:	n/a	n/a
38	CTCF	chr14:32256740-32256890	HCT-116	colon:	n/a	n/a
39	CTCF	chr14:32256720-32256870	GM12864	blood:	n/a	n/a
40	CTCF	chr14:32256677-32256940	A549	lung:	n/a	n/a
41	CTCF	chr14:32256680-32256830	HMEC	breast:	n/a	n/a
42	CTCF	chr14:32256780-32256930	HCT-116	colon:	n/a	n/a
43	CTCF	chr14:32256566-32257011	HepG2	liver:	n/a	n/a
44	CTCF	chr14:32256760-32256910	HBMEC	blood vessel:	n/a	n/a
45	CTCF	chr14:32256740-32256890	HRPEpiC	eye:	n/a	n/a
46	CTCF	chr14:32256800-32256950	HPF	lung:	n/a	n/a
47	CTCF	chr14:32256663-32257006	MCF-7	breast:	n/a	n/a
48	CTCF	chr14:32257380-32257530	HepG2	liver:	n/a	n/a
49	CTCF	chr14:32257460-32257610	SAEC	small airway:	n/a	n/a
50	CTCF	chr14:32256559-32257027	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:31979147..31979905-chr14:32256388..32256891,2	MCF-7	breast:
2	chr14:32250042..32252755-chr14:32254053..32255704,2	MCF-7	breast:
3	chr14:32247374..32249738-chr14:32259732..32262061,2	MCF-7	breast:
4	chr14:32247374..32249738-chr14:32259732..32262061,2	MCF-7	breast:
5	chr14:32250042..32252755-chr14:32254053..32255704,2	MCF-7	breast:

No data

Variant related genes	Relation type
NUBPL	TF binding region

Extended variants
information (count: 931 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:931 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11156707	chr14:32241873-32241874	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563698720	chr14:32241901-32241902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556003362	chr14:32241996-32241997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574028239	chr14:32242001-32242002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183403408	chr14:32242073-32242074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562715057	chr14:32242080-32242081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs67355575	chr14:32242161-32242162	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs371972912	chr14:32242182-32242183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545048449	chr14:32242183-32242184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555548314	chr14:32242190-32242191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560032898	chr14:32242224-32242225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574793835	chr14:32242244-32242245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144374303	chr14:32242250-32242251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139094738	chr14:32242251-32242252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374102443	chr14:32242254-32242255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567538554	chr14:32242262-32242263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143961375	chr14:32242265-32242266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367967634	chr14:32242268-32242269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550099660	chr14:32242274-32242275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571424293	chr14:32242285-32242286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542375461	chr14:32242312-32242313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538874220	chr14:32242388-32242389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558228893	chr14:32242430-32242431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566878974	chr14:32242467-32242468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111291311	chr14:32242497-32242498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534181962	chr14:32242503-32242504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs56084923	chr14:32242517-32242518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573718765	chr14:32242577-32242578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575696178	chr14:32242612-32242613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372140713	chr14:32242620-32242621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556450145	chr14:32242622-32242623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577807717	chr14:32242682-32242683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570911331	chr14:32242685-32242686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187509621	chr14:32242691-32242692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370052042	chr14:32242705-32242706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527432467	chr14:32242708-32242709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs17098165	chr14:32242747-32242748	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs192720968	chr14:32242776-32242777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531339345	chr14:32242828-32242829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74043618	chr14:32242835-32242836	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs565223442	chr14:32242906-32242907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532312157	chr14:32242928-32242929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113934562	chr14:32242929-32242930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184555571	chr14:32242950-32242951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139891675	chr14:32242954-32242955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142103961	chr14:32242986-32242987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189295434	chr14:32242993-32242994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567283416	chr14:32242999-32243000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs151205428	chr14:32243054-32243055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140264174	chr14:32243086-32243087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Endometrioid adenocarcinoma	16974079	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	20955586	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21990379	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32222600-32270200	Weak transcription	Aorta	Aorta
2	chr14:32239400-32249000	Weak transcription	Primary B cells from cord blood	blood
3	chr14:32239600-32259800	Weak transcription	Left Ventricle	heart
4	chr14:32240000-32247800	Weak transcription	Right Ventricle	heart
5	chr14:32240000-32249400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:32240000-32249600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:32242800-32250200	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr14:32243200-32249800	Weak transcription	Brain Hippocampus Middle	brain
9	chr14:32243800-32246400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr14:32244200-32245400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:32244200-32246600	Weak transcription	Dnd41	blood
12	chr14:32244400-32270200	Weak transcription	Ovary	ovary
13	chr14:32245600-32245800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:32247200-32247400	Enhancers	Brain Cingulate Gyrus	brain
15	chr14:32249400-32249600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:32249600-32250200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:32250200-32250600	Enhancers	Liver	Liver
18	chr14:32250200-32250600	ZNF genes & repeats	A549	lung
19	chr14:32250200-32251400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr14:32250400-32250800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr14:32250400-32250800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
22	chr14:32250600-32322400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr14:32250800-32270200	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr14:32251200-32272600	Weak transcription	Primary T cells from cord blood	blood
25	chr14:32251400-32261400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr14:32252000-32252600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:32252200-32261200	Weak transcription	Primary B cells from cord blood	blood
28	chr14:32252600-32268000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:32256600-32257400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr14:32257400-32257600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr14:32257400-32257600	Enhancers	Pancreas	Pancrea
32	chr14:32257400-32257800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:32257400-32258000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
34	chr14:32257400-32258000	Enhancers	Gastric	stomach
35	chr14:32257600-32258200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr14:32257600-32258200	Enhancers	Stomach Mucosa	stomach
37	chr14:32257600-32272200	Weak transcription	Pancreas	Pancrea
38	chr14:32257600-32281200	Weak transcription	HepG2	liver
39	chr14:32258000-32270600	Weak transcription	Gastric	stomach
40	chr14:32258200-32267200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr14:32261200-32268400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr14:32261400-32263000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr14:32261600-32262800	Enhancers	NHEK	skin
44	chr14:32261800-32262800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr14:32262000-32262800	Enhancers	HMEC	breast
46	chr14:32262000-32263000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr14:32263000-32287400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr14:32266800-32281000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr14:32267200-32267600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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