Variant report

Variant	nsv565009
Chromosome Location	chr14:70681037-70689390
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	CCNT2	chr14:70680679-70681072	K562	blood:	n/a	chr14:70680906-70680926
2	EP300	chr14:70680591-70681090	K562	blood:	n/a	n/a
3	IRF3	chr14:70681528-70681592	GM12878	blood:	n/a	n/a
4	JUND	chr14:70680565-70681048	K562	blood:	n/a	chr14:70680733-70680741 chr14:70680732-70680742 chr14:70680732-70680742 chr14:70680731-70680743
5	KAP1	chr14:70685680-70686208	K562	blood:	n/a	n/a
6	RCOR1	chr14:70680469-70681070	K562	blood:	n/a	n/a
7	SPI1	chr14:70680827-70681136	GM12891	blood:	n/a	n/a
8	SPI1	chr14:70680789-70681116	GM12891	blood:	n/a	n/a
9	SPI1	chr14:70680897-70681089	K562	blood:	n/a	n/a
10	STAT3	chr14:70684433-70684588	MCF10A-Er-Src	breast:	n/a	n/a
11	TEAD4	chr14:70680411-70681106	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:70670090..70672950-chr14:70682600..70684123,2	MCF-7	breast:
2	chr14:70683028..70687657-chr14:70688132..70693219,7	K562	blood:
3	chr14:70683028..70687657-chr14:70688132..70693219,5	K562	blood:
4	chr14:70686436..70688109-chr14:70689739..70691554,2	MCF-7	breast:
5	chr14:70668752..70670788-chr14:70688180..70689726,2	K562	blood:

Variant related genes	Relation type
ENSG00000258422	TF binding region
ENSG00000258422	chromatin interactions

Extended variants
information (count: 304 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1425615	chr14:70681037-70681038	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73278879	chr14:70681053-70681054	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs371320428	chr14:70681061-70681062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559932816	chr14:70681093-70681094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139276584	chr14:70681178-70681179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375986383	chr14:70681277-70681278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551954192	chr14:70681300-70681301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs193014319	chr14:70681302-70681303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs68025966	chr14:70681396-70681397	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs373462516	chr14:70681405-70681406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549418427	chr14:70681454-70681455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540195859	chr14:70681458-70681459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375125923	chr14:70681468-70681469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs57786449	chr14:70681469-70681470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs61979461	chr14:70681501-70681502	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs78973692	chr14:70681524-70681525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142852116	chr14:70681537-70681538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547353286	chr14:70681543-70681544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565913830	chr14:70681594-70681595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185248321	chr14:70681621-70681622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558672937	chr14:70681651-70681652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575736803	chr14:70681723-70681724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536721225	chr14:70681763-70681764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190488701	chr14:70681783-70681784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568119602	chr14:70681794-70681795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368087436	chr14:70681795-70681796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371218220	chr14:70681796-70681797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374813915	chr14:70681797-70681798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35712252	chr14:70681798-70681799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35292016	chr14:70681807-70681808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs397967192	chr14:70681814-70681815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573543604	chr14:70681857-70681858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7149038	chr14:70681858-70681859	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs35761259	chr14:70681911-70681912	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs578238998	chr14:70681942-70681943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199724445	chr14:70681957-70681958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs193131871	chr14:70681972-70681973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145823382	chr14:70681976-70681977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555765967	chr14:70681984-70681985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531040453	chr14:70682042-70682043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7154186	chr14:70682043-70682044	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs561361101	chr14:70682070-70682071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535183181	chr14:70682084-70682085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547710148	chr14:70682086-70682087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183567313	chr14:70682098-70682099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142993616	chr14:70682114-70682115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371587685	chr14:70682158-70682159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540368598	chr14:70682194-70682195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs151140520	chr14:70682197-70682198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141174620	chr14:70682222-70682223	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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	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
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
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70656400-70688400	Weak transcription	Psoas Muscle	Psoas
2	chr14:70680200-70681200	Enhancers	Primary hematopoietic stem cells	blood
3	chr14:70680200-70681400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr14:70680400-70681200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr14:70680600-70681200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr14:70681000-70681400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:70681200-70681400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr14:70687400-70687800	Enhancers	K562	blood
9	chr14:70687800-70689600	Weak transcription	K562	blood

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