Variant report

Variant	nsv981039
Chromosome Location	chr5:97014319-97027577
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	CTCF	chr5:97017686-97017758	LNCaP	prostate:	n/a	n/a
2	E2F4	chr5:97027470-97027670	MCF10A-Er-Src	breast:	n/a	n/a
3	GATA2	chr5:97026714-97027333	SH-SY5Y	brain:	n/a	chr5:97026774-97026781 chr5:97026774-97026781 chr5:97026769-97026785 chr5:97026767-97026788 chr5:97026774-97026781
4	GATA3	chr5:97026841-97027074	SH-SY5Y	brain:	n/a	n/a
5	MAFK	chr5:97024392-97024611	HepG2	liver:	n/a	chr5:97024510-97024526 chr5:97024515-97024526 chr5:97024515-97024526 chr5:97024514-97024525
6	POLR2A	chr5:97014254-97014433	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr5:97021829-97021845	MCF-7	breast:	n/a	n/a
8	POLR2A	chr5:97021733-97021920	MCF-7	breast:	n/a	n/a
9	POLR2A	chr5:97021852-97021948	A549	lung:	n/a	n/a
10	STAT3	chr5:97020540-97020783	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:97027188..97030158-chr5:97031253..97033564,2	K562	blood:

Variant related genes	Relation type
ENSG00000248931	TF binding region

Extended variants
information (count: 673 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:673 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550508755	chr5:97014347-97014348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187595661	chr5:97014365-97014366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4869176	chr5:97014366-97014367	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs542122285	chr5:97014400-97014401	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs527604380	chr5:97014401-97014402	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs4869383	chr5:97014421-97014422	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs192019151	chr5:97014435-97014436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531436439	chr5:97014467-97014468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112278022	chr5:97014506-97014507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549555038	chr5:97014526-97014527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375431051	chr5:97014537-97014538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568260296	chr5:97014544-97014545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185592017	chr5:97014557-97014558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527836960	chr5:97014583-97014584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190443798	chr5:97014601-97014602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113001436	chr5:97014625-97014626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73779199	chr5:97014646-97014647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs73149156	chr5:97014715-97014716	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs144488351	chr5:97014738-97014739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79166890	chr5:97014788-97014789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148414067	chr5:97014791-97014792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114488813	chr5:97014804-97014805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374708791	chr5:97014806-97014807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570655507	chr5:97014823-97014824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116597893	chr5:97014853-97014854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553508375	chr5:97014854-97014855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572031861	chr5:97014888-97014889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570224201	chr5:97014910-97014911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564444639	chr5:97014941-97014942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531497753	chr5:97014953-97014954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200924340	chr5:97014958-97014959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115469329	chr5:97014966-97014967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9314215	chr5:97014967-97014968	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs529363658	chr5:97014972-97014973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547841574	chr5:97014973-97014974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559571459	chr5:97015018-97015019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533401551	chr5:97015021-97015022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551478268	chr5:97015073-97015074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549792386	chr5:97015077-97015078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182090507	chr5:97015103-97015104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184639268	chr5:97015118-97015119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549613014	chr5:97015130-97015131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569687291	chr5:97015131-97015132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372201968	chr5:97015231-97015232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189106700	chr5:97015290-97015291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534881154	chr5:97015294-97015295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553864099	chr5:97015304-97015305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375224067	chr5:97015328-97015329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572036353	chr5:97015384-97015385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181276573	chr5:97015401-97015402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97006000-97026800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:97021000-97021800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:97021600-97021800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:97026800-97027400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr5:97027400-97035800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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