Variant report

Variant	nsv967589
Chromosome Location	chr8:52731031-52735145
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:33940388..33941168-chr8:52731029..52731940,3	MCF-7	breast:
2	chr11:38812677..38813259-chr8:52731146..52731951,2	MCF-7	breast:
3	chr11:38812523..38813144-chr8:52731415..52731945,3	MCF-7	breast:
4	chr16:33939878..33940836-chr8:52730956..52731844,2	MCF-7	breast:

No data

(count:4 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	PCMTD1	hsa-miR-92b-3p	chr8:52732392-52732413
2	PCMTD1	hsa-miR-92a-3p	chr8:52732398-52732391
3	PCMTD1	hsa-miR-92a-3p	chr8:52732392-52732413
4	PCMTD1	hsa-miR-92b-3p	chr8:52732398-52732391

Extended variants
information (count: 254 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:254 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7830967	chr8:52731092-52731093	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs78211682	chr8:52731106-52731107	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76543283	chr8:52731109-52731110	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78078393	chr8:52731134-52731135	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115444989	chr8:52731140-52731141	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545422699	chr8:52731156-52731157	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75703717	chr8:52731160-52731161	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563985513	chr8:52731197-52731198	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79624971	chr8:52731198-52731199	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77888396	chr8:52731210-52731211	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146733619	chr8:52731235-52731236	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10755973	chr8:52731250-52731251	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373607347	chr8:52731260-52731261	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200589962	chr8:52731262-52731263	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575565962	chr8:52731265-52731266	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77759781	chr8:52731292-52731293	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542584558	chr8:52731312-52731313	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs75917773	chr8:52731344-52731345	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs78296324	chr8:52731414-52731415	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs76429534	chr8:52731415-52731416	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs376956943	chr8:52731423-52731424	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs199769812	chr8:52731430-52731431	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs77699939	chr8:52731439-52731440	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs139832504	chr8:52731465-52731466	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs115201312	chr8:52731473-52731474	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs147687989	chr8:52731487-52731488	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs62506081	chr8:52731494-52731495	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs113180269	chr8:52731564-52731565	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs62506082	chr8:52731567-52731568	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs561050371	chr8:52731569-52731570	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs528526119	chr8:52731577-52731578	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs546682543	chr8:52731613-52731614	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200003400	chr8:52731619-52731620	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72644312	chr8:52731638-52731639	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs367609685	chr8:52731641-52731642	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201646693	chr8:52731653-52731654	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372128586	chr8:52731655-52731656	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs78239803	chr8:52731663-52731664	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs151199890	chr8:52731680-52731681	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376538873	chr8:52731687-52731688	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs78933304	chr8:52731691-52731692	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368227172	chr8:52731695-52731696	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs202000810	chr8:52731707-52731708	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs74421976	chr8:52731720-52731721	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs532314405	chr8:52731724-52731725	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550637293	chr8:52731740-52731741	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs114908894	chr8:52731753-52731754	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569097068	chr8:52731762-52731763	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112828612	chr8:52731765-52731766	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73679000	chr8:52731772-52731773	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	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
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	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
Glioblastoma multiforme	22286061	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
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD

Chromatin state (count:220 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52714400-52731800	Weak transcription	Thymus	Thymus
2	chr8:52717600-52735200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr8:52717600-52741800	Weak transcription	Aorta	Aorta
4	chr8:52717800-52733000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr8:52717800-52734600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:52718000-52734800	Weak transcription	Dnd41	blood
7	chr8:52719400-52741800	Weak transcription	Esophagus	oesophagus
8	chr8:52719800-52733000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr8:52719800-52734000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr8:52719800-52734600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr8:52720000-52731400	Weak transcription	Primary B cells from cord blood	blood
12	chr8:52720000-52735000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr8:52720200-52733000	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr8:52720400-52733000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr8:52720800-52735000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr8:52720800-52737000	Weak transcription	Brain Anterior Caudate	brain
17	chr8:52721000-52741000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr8:52721200-52733400	Weak transcription	Fetal Thymus	thymus
19	chr8:52722000-52771400	Weak transcription	Gastric	stomach
20	chr8:52722200-52733600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr8:52722200-52733600	Weak transcription	Left Ventricle	heart
22	chr8:52722200-52734800	Weak transcription	Lung	lung
23	chr8:52722200-52752000	Weak transcription	Pancreas	Pancrea
24	chr8:52722400-52733400	Weak transcription	Liver	Liver
25	chr8:52722400-52733400	Weak transcription	Ovary	ovary
26	chr8:52722400-52735000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr8:52722400-52741800	Weak transcription	Right Ventricle	heart
28	chr8:52722600-52733200	Weak transcription	Primary T cells from cord blood	blood
29	chr8:52722600-52734600	Weak transcription	Fetal Kidney	kidney
30	chr8:52722600-52735000	Weak transcription	HSMM	muscle
31	chr8:52722800-52731800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:52722800-52733200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:52722800-52733400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:52722800-52733600	Weak transcription	Fetal Stomach	stomach
35	chr8:52722800-52733600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr8:52722800-52735200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr8:52722800-52735200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr8:52722800-52741000	Weak transcription	Colon Smooth Muscle	Colon
39	chr8:52722800-52741800	Weak transcription	HSMMtube	muscle
40	chr8:52723000-52741600	Weak transcription	Fetal Heart	heart
41	chr8:52726000-52735000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:52726000-52741800	Weak transcription	Brain Substantia Nigra	brain
43	chr8:52726800-52734600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:52727000-52733000	Weak transcription	Fetal Intestine Large	intestine
45	chr8:52727400-52733000	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr8:52727600-52756800	Weak transcription	Brain Angular Gyrus	brain
47	chr8:52728000-52733000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:52728000-52734400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr8:52728200-52759200	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr8:52728400-52734400	Weak transcription	Rectal Mucosa Donor 29	rectum

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