Variant report

Variant	nsv976828
Chromosome Location	chr14:32257091-32272180
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:32257560-32257710	MCF-7	breast:	n/a	n/a
2	CTCF	chr14:32257380-32257530	HepG2	liver:	n/a	n/a
3	CTCF	chr14:32257720-32257870	Caco-2	colon:	n/a	n/a
4	CTCF	chr14:32257709-32257804	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr14:32257620-32257770	Caco-2	colon:	n/a	n/a
6	CTCF	chr14:32257760-32257910	RPTEC	kidney:	n/a	n/a
7	CTCF	chr14:32257680-32257847	MCF-7	breast:	n/a	n/a
8	CTCF	chr14:32257600-32257750	MCF-7	breast:	n/a	n/a
9	CTCF	chr14:32257460-32257610	SAEC	small airway:	n/a	n/a
10	CTCF	chr14:32257658-32257856	MCF-7	breast:	n/a	n/a
11	FOS	chr14:32262029-32262225	MCF10A-Er-Src	breast:	n/a	n/a
12	MAFF	chr14:32267221-32267511	K562	blood:	n/a	n/a
13	MAFF	chr14:32272073-32272382	HepG2	liver:	n/a	n/a
14	MAFF	chr14:32272156-32272367	K562	blood:	n/a	n/a
15	MAFK	chr14:32272061-32272421	HepG2	liver:	n/a	n/a
16	MAFK	chr14:32272087-32272407	IMR90	lung:	n/a	n/a
17	MAFK	chr14:32267274-32267518	K562	blood:	n/a	chr14:32267353-32267363 chr14:32267353-32267362
18	MAFK	chr14:32272085-32272420	HepG2	liver:	n/a	n/a
19	MYC	chr14:32269677-32269763	GM12878	blood:	n/a	n/a
20	POLR2A	chr14:32259746-32260013	ProgFib	skin:	n/a	n/a
21	SPI1	chr14:32257389-32257844	HL-60	blood:	n/a	n/a
22	SPI1	chr14:32257506-32257751	GM12878	blood:	n/a	n/a
23	SPI1	chr14:32257483-32257773	GM12891	blood:	n/a	n/a
24	SPI1	chr14:32264766-32264902	K562	blood:	n/a	n/a
25	SPI1	chr14:32264821-32264891	K562	blood:	n/a	n/a
26	SPI1	chr14:32257464-32257747	GM12891	blood:	n/a	n/a
27	STAT3	chr14:32268278-32268337	MCF10A-Er-Src	breast:	n/a	n/a
28	USF2	chr14:32260944-32260945	GM12878	blood:	n/a	n/a
29	WRNIP1	chr14:32257484-32257676	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:32269554-32269604	BJ	skin:	n/a
2	chr14:32269554-32269604	HEEpiC	esophagus:	n/a
3	chr14:32269554-32269604	GM06990	blood:	n/a
4	chr14:32269554-32269604	Caco-2	colon:	n/a
5	chr14:32269554-32269604	LNCaP	prostate:	n/a
6	chr14:32269554-32269604	HAEpiC	amniotic membrane:	n/a
7	chr14:32269554-32269604	PFSK-1	brain:	n/a
8	chr14:32269554-32269604	T-47D	breast:	n/a
9	chr14:32269554-32269604	NT2-D1	testis:	n/a
10	chr14:32269554-32269604	MCF10A-Er-Src	breast:	n/a
11	chr14:32269554-32269604	Hepatocyte	liver:	n/a
12	chr14:32269554-32269604	RPTEC	kidney:	n/a
13	chr14:32269554-32269604	K562	blood:	n/a
14	chr14:32269554-32269604	HCM	heart:	n/a
15	chr14:32269554-32269604	HCT-116	colon:	n/a
16	chr14:32269554-32269604	HIPEpiC	eye:	n/a
17	chr14:32269554-32269604	ovcar-3	ovarian:	n/a
18	chr14:32269554-32269604	PANC-1	pancreas:	n/a
19	chr14:32269554-32269604	HRCEpiC	kidney:	n/a
20	chr14:32269554-32269604	HCF	heart:	n/a
21	chr14:32269554-32269604	HL-60	blood:	n/a
22	chr14:32269554-32269604	ProgFib	skin:	n/a
23	chr14:32269554-32269604	SK-N-SH_RA	brain:	n/a
24	chr14:32269554-32269604	H1-hESC	embryonic stem cell:	embryo
25	chr14:32269554-32269604	HMEC	breast:	n/a
26	chr14:32269554-32269604	HCPEpiC	choroid plexus:	n/a
27	chr14:32269554-32269604	MCF-7	breast:	n/a
28	chr14:32269554-32269604	BE2_C	brain:	n/a
29	chr14:32269554-32269604	AoSMC	blood vessel:	n/a
30	chr14:32269554-32269604	PrEC	prostate:	n/a
31	chr14:32269554-32269604	NHBE	bronchial:	n/a
32	chr14:32269554-32269604	HPAEpiC	pulmonary alveolar:	n/a
33	chr14:32269554-32269604	HRPEpiC	eye:	n/a
34	chr14:32269554-32269604	NHDF-neo	bronchial:	n/a
35	chr14:32269554-32269604	GM19239	blood:	n/a
36	chr14:32269554-32269604	HRE	kidney:	n/a
37	chr14:32269554-32269604	U87	brain:	n/a
38	chr14:32269554-32269604	HNPCEpiC	eye:	n/a
39	chr14:32269554-32269604	AG09319	gingival:	n/a
40	chr14:32269554-32269604	SAEC	small airway:	n/a
41	chr14:32269554-32269604	AG04450	lung:	fetal
42	chr14:32269554-32269604	AG10803	skin:	n/a
43	chr14:32269554-32269604	SKMC	muscle:	n/a
44	chr14:32269554-32269604	Hela-S3	cervix:	n/a
45	chr14:32269554-32269604	SK-N-MC	brain:	n/a
46	chr14:32269554-32269604	HUVEC	blood vessel:	n/a
47	chr14:32269554-32269604	NH-A	brain:	n/a
48	chr14:32269554-32269604	GM12878	blood:	n/a
49	chr14:32269554-32269604	CMK	blood:	n/a
50	chr14:32269554-32269604	GM12891	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:32247374..32249738-chr14:32259732..32262061,2	MCF-7	breast:

No data

Variant related genes	Relation type
NUBPL	TF binding region
NUBPL	CpG island

Extended variants
information (count: 571 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:571 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554791996	chr14:32257100-32257101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576379937	chr14:32257148-32257149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543413204	chr14:32257164-32257165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143546935	chr14:32257181-32257182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532829333	chr14:32257187-32257188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541764349	chr14:32257191-32257192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559971139	chr14:32257212-32257213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530260416	chr14:32257215-32257216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547113068	chr14:32257272-32257273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548265207	chr14:32257291-32257292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570446414	chr14:32257296-32257297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530638640	chr14:32257334-32257335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199831880	chr14:32257349-32257350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551709079	chr14:32257373-32257374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146784445	chr14:32257380-32257381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534571124	chr14:32257381-32257382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552880229	chr14:32257436-32257437	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576183086	chr14:32257452-32257453	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568221821	chr14:32257474-32257475	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535336295	chr14:32257488-32257489	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs57249611	chr14:32257489-32257490	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs139650699	chr14:32257521-32257522	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114190369	chr14:32257559-32257560	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142107438	chr14:32257563-32257564	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375668661	chr14:32257568-32257569	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558958302	chr14:32257593-32257594	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75915629	chr14:32257605-32257606	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552987017	chr14:32257759-32257760	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541727221	chr14:32257760-32257761	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560138809	chr14:32257777-32257778	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530307317	chr14:32257806-32257807	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542015988	chr14:32257811-32257812	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563908295	chr14:32257849-32257850	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530492575	chr14:32257855-32257856	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145371954	chr14:32257889-32257890	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563723718	chr14:32257926-32257927	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528102346	chr14:32257972-32257973	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546486209	chr14:32257980-32257981	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111475991	chr14:32258033-32258034	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149183820	chr14:32258055-32258056	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550475684	chr14:32258058-32258059	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574714981	chr14:32258075-32258076	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186016598	chr14:32258096-32258097	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537527809	chr14:32258136-32258137	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11849755	chr14:32258158-32258159	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs112225255	chr14:32258185-32258186	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs151315560	chr14:32258201-32258202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535061793	chr14:32258223-32258224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115093365	chr14:32258227-32258228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9322877	chr14:32258270-32258271	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:66)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32222600-32270200	Weak transcription	Aorta	Aorta
2	chr14:32239600-32259800	Weak transcription	Left Ventricle	heart
3	chr14:32244400-32270200	Weak transcription	Ovary	ovary
4	chr14:32250600-32322400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr14:32250800-32270200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr14:32251200-32272600	Weak transcription	Primary T cells from cord blood	blood
7	chr14:32251400-32261400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:32252200-32261200	Weak transcription	Primary B cells from cord blood	blood
9	chr14:32252600-32268000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:32256600-32257400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr14:32257400-32257600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:32257400-32257600	Enhancers	Pancreas	Pancrea
13	chr14:32257400-32257800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr14:32257400-32258000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
15	chr14:32257400-32258000	Enhancers	Gastric	stomach
16	chr14:32257600-32258200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:32257600-32258200	Enhancers	Stomach Mucosa	stomach
18	chr14:32257600-32272200	Weak transcription	Pancreas	Pancrea
19	chr14:32257600-32281200	Weak transcription	HepG2	liver
20	chr14:32258000-32270600	Weak transcription	Gastric	stomach
21	chr14:32258200-32267200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:32261200-32268400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr14:32261400-32263000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:32261600-32262800	Enhancers	NHEK	skin
25	chr14:32261800-32262800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:32262000-32262800	Enhancers	HMEC	breast
27	chr14:32262000-32263000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:32263000-32287400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr14:32266800-32281000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr14:32267200-32267600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr14:32267600-32268800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:32268000-32269000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr14:32268400-32271200	Strong transcription	Primary hematopoietic stem cells	blood
34	chr14:32268600-32268800	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr14:32268800-32269000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:32268800-32269400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:32268800-32270200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr14:32268800-32271400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr14:32269000-32270600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr14:32269200-32270200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr14:32269400-32270200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr14:32270200-32270400	Enhancers	Ovary	ovary
43	chr14:32270200-32270600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:32270200-32270600	ZNF genes & repeats	Aorta	Aorta
45	chr14:32270200-32270600	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr14:32270200-32271000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr14:32270400-32270600	Weak transcription	Ovary	ovary
48	chr14:32270600-32281000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr14:32271000-32271800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr14:32271200-32273000	Weak transcription	Primary hematopoietic stem cells	blood

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