Variant report

Variant	nsv968165
Chromosome Location	chr5:36182767-36183974
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:36180379..36183249-chr5:36239593..36241776,2	K562	blood:

Variant related genes	Relation type
ENSG00000152620	chromatin interactions

Extended variants
information (count: 45 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143074598	chr5:36182806-36182807	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs13359244	chr5:36182892-36182893	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs565530052	chr5:36182902-36182903	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs570070264	chr5:36182913-36182914	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs534607462	chr5:36182921-36182922	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs187512088	chr5:36183041-36183042	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs568271341	chr5:36183073-36183074	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs35863230	chr5:36183098-36183099	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs191975890	chr5:36183194-36183195	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs557214215	chr5:36183206-36183207	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs111757340	chr5:36183211-36183212	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs545954479	chr5:36183258-36183259	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552686064	chr5:36183266-36183267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11554961	chr5:36183319-36183320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189335003	chr5:36183320-36183321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs180989398	chr5:36183322-36183323	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561594829	chr5:36183368-36183369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377326146	chr5:36183369-36183370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77676518	chr5:36183373-36183374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113631265	chr5:36183374-36183375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530345304	chr5:36183380-36183381	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543583443	chr5:36183404-36183405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563570748	chr5:36183417-36183418	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187484	chr5:36183431-36183432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369884935	chr5:36183432-36183433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552683420	chr5:36183437-36183438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566040904	chr5:36183454-36183455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559633375	chr5:36183471-36183472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs3933496	chr5:36183485-36183486	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs548306817	chr5:36183494-36183495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551539437	chr5:36183504-36183505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190004052	chr5:36183514-36183515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200969102	chr5:36183529-36183530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570700183	chr5:36183537-36183538	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141292010	chr5:36183774-36183775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539536930	chr5:36183784-36183785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552987635	chr5:36183785-36183786	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570172592	chr5:36183794-36183795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572862224	chr5:36183808-36183809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541776180	chr5:36183812-36183813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555092751	chr5:36183851-36183852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574772857	chr5:36183890-36183891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372096885	chr5:36183925-36183926	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201844297	chr5:36183958-36183959	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199517101	chr5:36183971-36183972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36153800-36184400	Strong transcription	HUES64 Cell Line	embryonic stem cell
2	chr5:36154000-36184200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:36154200-36184400	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr5:36154200-36184400	Strong transcription	Fetal Thymus	thymus
5	chr5:36154400-36184400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:36154400-36210800	Weak transcription	Small Intestine	intestine
7	chr5:36158200-36183200	Strong transcription	Hela-S3	cervix
8	chr5:36158400-36184400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr5:36158600-36184600	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr5:36158600-36185600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:36161800-36184400	Strong transcription	Dnd41	blood
12	chr5:36162400-36183000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:36162400-36184400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:36163800-36200600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr5:36164800-36220800	Weak transcription	Gastric	stomach
16	chr5:36167200-36182800	Strong transcription	NH-A	brain
17	chr5:36169200-36193200	Weak transcription	Pancreas	Pancrea
18	chr5:36169600-36202400	Weak transcription	Fetal Heart	heart
19	chr5:36171800-36220600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:36172000-36185200	Weak transcription	Esophagus	oesophagus
21	chr5:36172000-36229200	Weak transcription	Colonic Mucosa	Colon
22	chr5:36172400-36189400	Weak transcription	Fetal Intestine Small	intestine
23	chr5:36172400-36189600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:36174200-36195200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr5:36174400-36190800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr5:36175000-36189600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:36175000-36191200	Weak transcription	Aorta	Aorta
28	chr5:36175000-36191600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:36175200-36184400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr5:36175200-36189600	Weak transcription	Spleen	Spleen
31	chr5:36175200-36202400	Weak transcription	Right Ventricle	heart
32	chr5:36175200-36220800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr5:36175400-36189600	Weak transcription	Lung	lung
34	chr5:36175400-36190600	Weak transcription	Ovary	ovary
35	chr5:36175600-36195800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr5:36175600-36222400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr5:36176600-36184400	Strong transcription	HSMM	muscle
38	chr5:36176800-36183200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:36176800-36183200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr5:36176800-36184400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:36177000-36182800	Strong transcription	Primary T cells from cord blood	blood
42	chr5:36177000-36183200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:36177000-36184000	Strong transcription	Placenta	Placenta
44	chr5:36177000-36184400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:36177000-36184400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr5:36177200-36182800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr5:36177200-36182800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr5:36177200-36183200	Strong transcription	Fetal Intestine Large	intestine
49	chr5:36177200-36183800	Strong transcription	Fetal Muscle Trunk	muscle
50	chr5:36177200-36184200	Strong transcription	Osteobl	bone

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