Variant report

Variant	nsv932850
Chromosome Location	chr5:35867297-35867582
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372080447	chr5:35867298-35867299	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572790533	chr5:35867299-35867300	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184042207	chr5:35867322-35867323	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187879238	chr5:35867329-35867330	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73750058	chr5:35867343-35867344	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs549933503	chr5:35867356-35867357	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376477560	chr5:35867361-35867362	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200874259	chr5:35867365-35867366	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs202194801	chr5:35867386-35867387	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139835773	chr5:35867388-35867389	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200687605	chr5:35867418-35867419	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552630274	chr5:35867423-35867424	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200475138	chr5:35867425-35867426	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201767916	chr5:35867432-35867433	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141698985	chr5:35867451-35867452	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs193922640	chr5:35867466-35867467	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191585195	chr5:35867469-35867470	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200241281	chr5:35867492-35867493	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201106853	chr5:35867493-35867494	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs199742437	chr5:35867499-35867500	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150051812	chr5:35867500-35867501	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201058754	chr5:35867501-35867502	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548638151	chr5:35867518-35867519	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs199641706	chr5:35867519-35867520	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200817423	chr5:35867522-35867523	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11567735	chr5:35867525-35867526	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537367054	chr5:35867530-35867531	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs193922641	chr5:35867539-35867540	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs200506624	chr5:35867544-35867545	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201710684	chr5:35867545-35867546	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140473900	chr5:35867552-35867553	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145407742	chr5:35867559-35867560	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201207454	chr5:35867562-35867563	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs111370546	chr5:35867573-35867574	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	21147910	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:35857400-35869200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
2	chr5:35860000-35869000	Weak transcription	HMEC	breast
3	chr5:35860000-35876600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:35860400-35872800	Weak transcription	Spleen	Spleen
5	chr5:35860400-35883800	Weak transcription	Small Intestine	intestine
6	chr5:35861200-35870400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr5:35862400-35870400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr5:35862600-35868200	Strong transcription	Fetal Thymus	thymus
9	chr5:35862600-35868600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:35862600-35876200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:35863600-35868800	Weak transcription	Lung	lung
12	chr5:35863800-35868400	Weak transcription	HSMM	muscle
13	chr5:35863800-35868800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:35863800-35869000	Weak transcription	GM12878-XiMat	blood
15	chr5:35863800-35876200	Weak transcription	NHDF-Ad	bronchial
16	chr5:35864200-35867800	Weak transcription	NHLF	lung
17	chr5:35864200-35869600	Weak transcription	Primary B cells from cord blood	blood
18	chr5:35864600-35876600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr5:35864800-35867600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr5:35864800-35867600	Weak transcription	Osteobl	bone
21	chr5:35866000-35868800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr5:35866000-35873400	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr5:35866200-35878400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr5:35866400-35869200	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr5:35866400-35872400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
26	chr5:35866600-35867400	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr5:35866600-35872200	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr5:35866600-35878800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr5:35866600-35882000	Genic enhancers	Dnd41	blood
30	chr5:35866800-35867800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr5:35867000-35867600	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
32	chr5:35867000-35867600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr5:35867000-35868800	Genic enhancers	Primary T cells fromperipheralblood	blood
34	chr5:35867200-35867400	Genic enhancers	Thymus	Thymus
35	chr5:35867200-35867800	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
36	chr5:35867200-35872200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr5:35867400-35868200	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
38	chr5:35867400-35869000	Strong transcription	Thymus	Thymus

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