Variant report

Variant	nsv968166
Chromosome Location	chr5:36587211-36588834
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	FOXA1	chr5:36587478-36587777	HepG2	liver:	n/a	n/a
2	FOXA1	chr5:36587496-36587806	HepG2	liver:	n/a	n/a
3	MAFK	chr5:36588257-36588264	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:36584778..36587591-chr5:36627984..36629667,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000242292	TF binding region

Extended variants
information (count: 68 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542421129	chr5:36587212-36587213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570870446	chr5:36587233-36587234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs193013032	chr5:36587253-36587254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112619949	chr5:36587288-36587289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376798028	chr5:36587293-36587294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569933134	chr5:36587299-36587300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185145220	chr5:36587346-36587347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564526867	chr5:36587357-36587358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533489950	chr5:36587394-36587395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546888732	chr5:36587485-36587486	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs188813784	chr5:36587486-36587487	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs11742434	chr5:36587524-36587525	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs536060672	chr5:36587622-36587623	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs371036873	chr5:36587642-36587643	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs192648720	chr5:36587643-36587644	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs549281987	chr5:36587644-36587645	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs569361082	chr5:36587657-36587658	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs2731916	chr5:36587667-36587668	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs11952509	chr5:36587698-36587699	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs138609723	chr5:36587782-36587783	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs2731917	chr5:36587783-36587784	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs554121476	chr5:36587831-36587832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35222778	chr5:36587886-36587887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184993070	chr5:36587937-36587938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542832043	chr5:36587942-36587943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556064202	chr5:36587958-36587959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576125563	chr5:36587961-36587962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6887781	chr5:36588025-36588026	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs141451442	chr5:36588038-36588039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188035492	chr5:36588052-36588053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554298300	chr5:36588080-36588081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574338523	chr5:36588088-36588089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35462245	chr5:36588105-36588106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs578219763	chr5:36588123-36588124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543636855	chr5:36588124-36588125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557146145	chr5:36588135-36588136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540589355	chr5:36588137-36588138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560435090	chr5:36588180-36588181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6888575	chr5:36588188-36588189	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs367766682	chr5:36588192-36588193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs180904504	chr5:36588227-36588228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34645078	chr5:36588238-36588239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559281616	chr5:36588239-36588240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549587100	chr5:36588249-36588250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142740258	chr5:36588274-36588275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531881654	chr5:36588286-36588287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184550060	chr5:36588373-36588374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375041282	chr5:36588428-36588429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571728967	chr5:36588437-36588438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189338113	chr5:36588495-36588496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Autism	21701786	CNVD
Cervical cancer	16585170	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36584600-36587600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr5:36584800-36590400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:36584800-36590800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:36585200-36590600	Weak transcription	Brain Anterior Caudate	brain
5	chr5:36585400-36590800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr5:36586200-36590600	Weak transcription	Brain Substantia Nigra	brain
7	chr5:36586200-36590800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr5:36587600-36587800	Enhancers	Left Ventricle	heart
9	chr5:36587600-36588000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr5:36587800-36591400	Weak transcription	Left Ventricle	heart
11	chr5:36588000-36590600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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