Variant report

Variant	nsv972250
Chromosome Location	chr8:67542862-67555066
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67349410..67351285-chr8:67541036..67543466,2	K562	blood:
2	chr8:67538585..67542543-chr8:67543588..67545665,4	K562	blood:
3	chr8:67546609..67549013-chr8:67579854..67581990,2	K562	blood:
4	chr8:67544478..67546833-chr8:67572717..67575425,2	MCF-7	breast:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	VCPIP1	hsa-miR-361-5p	chr8:67544579-67544600

Variant related genes	Relation type
ENSG00000213865	chromatin interactions

Extended variants
information (count: 391 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:391 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190699752	chr8:67542927-67542928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147541586	chr8:67543054-67543055	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553588517	chr8:67543076-67543077	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573369693	chr8:67543077-67543078	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183536096	chr8:67543096-67543097	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs578229372	chr8:67543166-67543167	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187719578	chr8:67543193-67543194	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs3824258	chr8:67543262-67543263	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs529644023	chr8:67543274-67543275	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374628218	chr8:67543423-67543424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575318038	chr8:67543440-67543441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542951387	chr8:67543489-67543490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79199105	chr8:67543591-67543592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190646254	chr8:67543609-67543610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376738365	chr8:67543611-67543612	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372365649	chr8:67543668-67543669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560951684	chr8:67543777-67543778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550654248	chr8:67543798-67543799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570185987	chr8:67543879-67543880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532975679	chr8:67543939-67543940	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs56682762	chr8:67543995-67543996	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs566327276	chr8:67544062-67544063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560882135	chr8:67544170-67544171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182935512	chr8:67544261-67544262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115292975	chr8:67544292-67544293	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377318042	chr8:67544319-67544320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140140733	chr8:67544322-67544323	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537820514	chr8:67544335-67544336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188032780	chr8:67544348-67544349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs578166910	chr8:67544410-67544411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201056546	chr8:67544437-67544438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192976541	chr8:67544524-67544525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150038152	chr8:67544609-67544610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144331641	chr8:67544612-67544613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113604640	chr8:67544616-67544617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562993912	chr8:67544697-67544698	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575218194	chr8:67544708-67544709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546593830	chr8:67544762-67544763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543829588	chr8:67544776-67544777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184652544	chr8:67544792-67544793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532908898	chr8:67544807-67544808	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546278089	chr8:67544851-67544852	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148755492	chr8:67544863-67544864	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188059740	chr8:67544919-67544920	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192287463	chr8:67544925-67544926	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184749750	chr8:67544985-67544986	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189156142	chr8:67545042-67545043	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181608643	chr8:67545103-67545104	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142320265	chr8:67545144-67545145	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs151256557	chr8:67545146-67545147	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
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
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
Cancer	16751803	CNVD
Salivary gland tumor	18059337	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	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
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:447 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67526400-67558000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:67526800-67543400	Weak transcription	HSMM	muscle
3	chr8:67526800-67546000	Weak transcription	NHDF-Ad	bronchial
4	chr8:67526800-67546800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:67527000-67545200	Weak transcription	Colon Smooth Muscle	Colon
6	chr8:67527000-67554000	Weak transcription	NHEK	skin
7	chr8:67533200-67543600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:67533200-67544200	Weak transcription	HMEC	breast
9	chr8:67533200-67545600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:67538200-67544600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr8:67538200-67545600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr8:67538400-67545400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:67538400-67546400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr8:67538600-67546600	Weak transcription	Psoas Muscle	Psoas
15	chr8:67538600-67546800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr8:67538800-67544000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:67538800-67545600	Weak transcription	Left Ventricle	heart
18	chr8:67539000-67545400	Weak transcription	Primary T cells from cord blood	blood
19	chr8:67539200-67543400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:67539200-67551200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:67539400-67546400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr8:67539400-67574000	Weak transcription	Spleen	Spleen
23	chr8:67539800-67544600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr8:67540200-67545400	Weak transcription	Primary B cells from cord blood	blood
25	chr8:67540400-67546800	Weak transcription	Pancreas	Pancrea
26	chr8:67540600-67543400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:67540600-67545000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:67540800-67545200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr8:67541200-67546800	Weak transcription	Aorta	Aorta
30	chr8:67541600-67543600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr8:67541600-67543600	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr8:67541800-67543600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:67541800-67546000	Weak transcription	Hela-S3	cervix
34	chr8:67541800-67546400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr8:67541800-67546600	Weak transcription	K562	blood
36	chr8:67542000-67543800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr8:67542000-67544400	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr8:67542000-67544600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr8:67542000-67544800	Weak transcription	GM12878-XiMat	blood
40	chr8:67542000-67545000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr8:67542000-67545000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr8:67542000-67545400	Weak transcription	Liver	Liver
43	chr8:67542000-67545600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr8:67542000-67546600	Weak transcription	Brain Hippocampus Middle	brain
45	chr8:67542200-67544600	Weak transcription	Dnd41	blood
46	chr8:67542200-67545600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr8:67542200-67546600	Weak transcription	Brain Anterior Caudate	brain
48	chr8:67542200-67546800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr8:67542400-67545400	Weak transcription	Fetal Intestine Large	intestine
50	chr8:67542400-67546200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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