Variant report

Variant	nsv597838
Chromosome Location	chr5:37255585-37274036
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:37248986..37251639-chr5:37261227..37263594,2	MCF-7	breast:
2	chr5:37248340..37251803-chr5:37254807..37257992,3	MCF-7	breast:
3	chr5:37242850..37244799-chr5:37268818..37270992,2	MCF-7	breast:
4	chr5:37248443..37250196-chr5:37254645..37256658,2	MCF-7	breast:
5	chr5:37270941..37273083-chr5:37281934..37283634,2	MCF-7	breast:
6	chr5:37269632..37270132-chr7:82369579..82370242,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197603	chromatin interactions

Extended variants
information (count: 705 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:705 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115389385	chr5:37255630-37255631	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs375523518	chr5:37255693-37255694	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs568400009	chr5:37255710-37255711	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs535600044	chr5:37255715-37255716	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs528220698	chr5:37255757-37255758	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs143015058	chr5:37255797-37255798	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs541911110	chr5:37255901-37255902	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs561182580	chr5:37255926-37255927	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs148205845	chr5:37255932-37255933	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs557927527	chr5:37255980-37255981	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs576667470	chr5:37256017-37256018	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs544054221	chr5:37256029-37256030	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs73066405	chr5:37256045-37256046	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs574345673	chr5:37256063-37256064	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs184206316	chr5:37256071-37256072	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs560323329	chr5:37256108-37256109	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs527371515	chr5:37256137-37256138	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs538615503	chr5:37256148-37256149	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs552444341	chr5:37256149-37256150	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs530245352	chr5:37256219-37256220	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs564257019	chr5:37256277-37256278	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs13179402	chr5:37256344-37256345	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs550013266	chr5:37256355-37256356	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs568244666	chr5:37256394-37256395	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs563674760	chr5:37256399-37256400	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs572841792	chr5:37256401-37256402	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs535879924	chr5:37256427-37256428	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs547380914	chr5:37256442-37256443	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs571425752	chr5:37256490-37256491	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs532363296	chr5:37256512-37256513	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs189002314	chr5:37256651-37256652	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs181097396	chr5:37256652-37256653	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs141156564	chr5:37256663-37256664	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs146139158	chr5:37256673-37256674	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs140193285	chr5:37256682-37256683	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs201911378	chr5:37256694-37256695	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs556052793	chr5:37256744-37256745	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs574235569	chr5:37256759-37256760	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs541887033	chr5:37256767-37256768	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs560185117	chr5:37256786-37256787	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs572171890	chr5:37256804-37256805	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs545872497	chr5:37256829-37256830	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs564140764	chr5:37257042-37257043	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs142107934	chr5:37257043-37257044	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs549696535	chr5:37257072-37257073	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs552336822	chr5:37257078-37257079	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs150708845	chr5:37257079-37257080	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs529151493	chr5:37257081-37257082	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs547391205	chr5:37257087-37257088	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs139601173	chr5:37257172-37257173	Weak transcription	Chromatin interactive region	1 gene(s)	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
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
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
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37250200-37257200	Weak transcription	Psoas Muscle	Psoas
2	chr5:37250200-37260000	Weak transcription	Brain Anterior Caudate	brain
3	chr5:37250400-37256600	Weak transcription	Colon Smooth Muscle	Colon
4	chr5:37250400-37257400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr5:37250400-37264200	Weak transcription	Brain Substantia Nigra	brain
6	chr5:37254800-37263400	Weak transcription	Hela-S3	cervix
7	chr5:37255000-37260000	Weak transcription	Left Ventricle	heart
8	chr5:37255000-37261800	Weak transcription	Fetal Intestine Small	intestine
9	chr5:37256000-37256400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr5:37258800-37272200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:37261800-37262400	ZNF genes & repeats	Fetal Intestine Small	intestine
12	chr5:37263400-37263800	Enhancers	Hela-S3	cervix
13	chr5:37271600-37271800	Enhancers	Hela-S3	cervix
14	chr5:37271800-37272800	Enhancers	HSMM	muscle
15	chr5:37271800-37273000	Flanking Active TSS	Hela-S3	cervix
16	chr5:37272000-37272200	Active TSS	A549	lung
17	chr5:37272000-37273000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr5:37272200-37272800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:37272200-37272800	Flanking Active TSS	A549	lung
20	chr5:37272200-37272800	Enhancers	HSMMtube	muscle
21	chr5:37272200-37273000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:37272200-37273000	Enhancers	HMEC	breast
23	chr5:37272200-37273000	Enhancers	NHEK	skin
24	chr5:37272400-37272800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr5:37272400-37272800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr5:37272400-37273000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr5:37272400-37273000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr5:37272400-37273000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:37272400-37273200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:37272600-37273000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:37272600-37273000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:37272600-37273000	Enhancers	Fetal Heart	heart
33	chr5:37272600-37273000	Enhancers	Fetal Muscle Leg	muscle
34	chr5:37272800-37273800	Weak transcription	HSMMtube	muscle
35	chr5:37272800-37274200	Weak transcription	A549	lung
36	chr5:37272800-37283400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr5:37273000-37276200	Enhancers	Hela-S3	cervix
38	chr5:37273800-37274400	Enhancers	HSMMtube	muscle

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