Variant report

Variant	nsv971657
Chromosome Location	chr8:59360530-59363912
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	UBXN2B	hsa-miR-16-5p	chr8:59362418-59362437

Extended variants
information (count: 135 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535576487	chr8:59360548-59360549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190752951	chr8:59360555-59360556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183756736	chr8:59360571-59360572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555381984	chr8:59360654-59360655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs67257878	chr8:59360667-59360668	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs377434938	chr8:59360669-59360670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186656161	chr8:59360686-59360687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200336686	chr8:59360732-59360733	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71248196	chr8:59360749-59360750	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528101489	chr8:59360754-59360755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148933248	chr8:59360772-59360773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147055282	chr8:59360793-59360794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112555566	chr8:59360837-59360838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556514639	chr8:59360840-59360841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557993714	chr8:59360878-59360879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs71521415	chr8:59360882-59360883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543185320	chr8:59360899-59360900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535820336	chr8:59360905-59360906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146995083	chr8:59360997-59360998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572365314	chr8:59361001-59361002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541032421	chr8:59361020-59361021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557704504	chr8:59361024-59361025	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs578047225	chr8:59361070-59361071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556755665	chr8:59361116-59361117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144200214	chr8:59361141-59361142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74274677	chr8:59361143-59361144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563379235	chr8:59361146-59361147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529084740	chr8:59361214-59361215	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542798562	chr8:59361226-59361227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559696704	chr8:59361259-59361260	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551267182	chr8:59361314-59361315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs56365831	chr8:59361316-59361317	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191548287	chr8:59361323-59361324	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528362067	chr8:59361338-59361339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs59493755	chr8:59361359-59361360	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71521416	chr8:59361366-59361367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571201270	chr8:59361420-59361421	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs76507813	chr8:59361432-59361433	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs186962522	chr8:59361442-59361443	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs116310847	chr8:59361472-59361473	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs548911645	chr8:59361539-59361540	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs567201963	chr8:59361552-59361553	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs570199850	chr8:59361593-59361594	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs536048688	chr8:59361628-59361629	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs370132086	chr8:59361632-59361633	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs555497846	chr8:59361706-59361707	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs561541937	chr8:59361800-59361801	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs566045515	chr8:59361817-59361818	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534955567	chr8:59361829-59361830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557755334	chr8:59361832-59361833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD

Chromatin state (count:203 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59324800-59362000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr8:59325000-59361200	Weak transcription	Psoas Muscle	Psoas
3	chr8:59325200-59370800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr8:59325800-59363200	Weak transcription	Hela-S3	cervix
5	chr8:59326600-59361400	Weak transcription	Fetal Brain Male	brain
6	chr8:59326600-59366200	Weak transcription	Gastric	stomach
7	chr8:59332600-59364800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:59334400-59364200	Weak transcription	HMEC	breast
9	chr8:59336000-59361400	Weak transcription	Spleen	Spleen
10	chr8:59336000-59364800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr8:59336000-59366600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr8:59336600-59360800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr8:59337800-59363200	Weak transcription	Pancreas	Pancrea
14	chr8:59339600-59363400	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr8:59342200-59366200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr8:59342400-59365400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr8:59349600-59361600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr8:59349800-59370800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:59351600-59362400	Weak transcription	Fetal Stomach	stomach
20	chr8:59353400-59361000	Weak transcription	Placenta	Placenta
21	chr8:59353400-59364600	Weak transcription	Brain Anterior Caudate	brain
22	chr8:59353600-59362200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr8:59353800-59361000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr8:59353800-59370400	Weak transcription	Esophagus	oesophagus
25	chr8:59354600-59364200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr8:59354800-59360600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:59354800-59360800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:59354800-59360800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr8:59354800-59360800	Weak transcription	Aorta	Aorta
30	chr8:59354800-59360800	Weak transcription	Fetal Brain Female	brain
31	chr8:59354800-59360800	Weak transcription	Fetal Muscle Trunk	muscle
32	chr8:59354800-59360800	Weak transcription	Left Ventricle	heart
33	chr8:59354800-59360800	Weak transcription	Ovary	ovary
34	chr8:59354800-59361000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr8:59354800-59361000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:59354800-59361000	Weak transcription	Primary T cells from cord blood	blood
37	chr8:59354800-59361000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr8:59354800-59361000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr8:59354800-59361200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:59354800-59361400	Weak transcription	Brain Germinal Matrix	brain
41	chr8:59354800-59361800	Weak transcription	HSMMtube	muscle
42	chr8:59354800-59362400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr8:59354800-59362600	Strong transcription	Liver	Liver
44	chr8:59354800-59362800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr8:59354800-59363200	Weak transcription	Fetal Kidney	kidney
46	chr8:59354800-59363200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr8:59354800-59363400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr8:59354800-59363800	Weak transcription	Brain Substantia Nigra	brain
49	chr8:59354800-59364000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:59354800-59364200	Weak transcription	NHEK	skin

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