Variant report

Variant	nsv891052
Chromosome Location	chr8:78445427-78498790
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	chr8:78490209..78491939-chr8:78494063..78496906,3	MCF-7	breast:
2	chr8:78490209..78491939-chr8:78494063..78496906,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZFHX4-3	chr8:78449461-78449526	ENSG00000254366.2
2	lnc-ZFHX4-3	chr8:78449461-78449526	ENSG00000254366
3	lnc-ZFHX4-3	chr8:78449461-78449526	NONHSAT127353

Extended variants
information (count: 559 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:559 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377745526	chr8:78449464-78449465	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs562203593	chr8:78451488-78451489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529385465	chr8:78451531-78451532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183476981	chr8:78451561-78451562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561872142	chr8:78451574-78451575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149916687	chr8:78451588-78451589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144934575	chr8:78451606-78451607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs454824	chr8:78451620-78451621	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs577577450	chr8:78451629-78451630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551744306	chr8:78451644-78451645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570242446	chr8:78451647-78451648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562556919	chr8:78451752-78451753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139829636	chr8:78451821-78451822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185510547	chr8:78451863-78451864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs365418	chr8:78451901-78451902	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs534395683	chr8:78451920-78451921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551526280	chr8:78451939-78451940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189971078	chr8:78451951-78451952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376369792	chr8:78451979-78451980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547480756	chr8:78454442-78454443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536330343	chr8:78454450-78454451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190476361	chr8:78454495-78454496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566812520	chr8:78454520-78454521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181788547	chr8:78454566-78454567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372460453	chr8:78454568-78454569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185755402	chr8:78454571-78454572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577467269	chr8:78454580-78454581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375191978	chr8:78454584-78454585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs58927140	chr8:78454615-78454616	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs556781533	chr8:78454651-78454652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540828061	chr8:78454655-78454656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs427543	chr8:78454662-78454663	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs368422447	chr8:78454695-78454696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541917340	chr8:78454697-78454698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559894883	chr8:78454733-78454734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527241858	chr8:78454761-78454762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545470080	chr8:78454800-78454801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190212939	chr8:78454806-78454807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572179675	chr8:78454888-78454889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564452363	chr8:78454924-78454925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs446476	chr8:78454931-78454932	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs147811719	chr8:78460006-78460007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530993495	chr8:78460017-78460018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184457011	chr8:78460020-78460021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142443910	chr8:78460021-78460022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544278526	chr8:78460070-78460071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373936040	chr8:78460071-78460072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146526949	chr8:78460110-78460111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187804248	chr8:78460115-78460116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541460531	chr8:78460117-78460118	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	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
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
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
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
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Colorectal cancer	19455253	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Urothelial cell carcinoma	18451213	CNVD
Intellectual disability	21802062	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:78451400-78451800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr8:78451400-78452000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:78454400-78455000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:78460000-78460400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:78462800-78463200	ZNF genes & repeats	Fetal Muscle Leg	muscle
6	chr8:78463000-78463400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:78463600-78466000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:78464800-78465200	ZNF genes & repeats	Aorta	Aorta
9	chr8:78466000-78466400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:78477000-78477800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:78477000-78477800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:78477200-78477800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:78477200-78477800	Enhancers	Adipose Nuclei	Adipose
14	chr8:78477200-78477800	Enhancers	Liver	Liver
15	chr8:78477200-78478000	Enhancers	Primary T cells from cord blood	blood
16	chr8:78477600-78477800	Enhancers	Osteobl	bone
17	chr8:78477600-78478400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr8:78477600-78478600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr8:78477800-78478000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr8:78477800-78478000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:78477800-78478000	Flanking Active TSS	Liver	Liver
22	chr8:78477800-78478000	Active TSS	Hela-S3	cervix
23	chr8:78477800-78478200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr8:78477800-78478200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:78477800-78478400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr8:78477800-78478400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:78477800-78478400	Enhancers	Primary hematopoietic stem cells	blood
28	chr8:78477800-78478400	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr8:78477800-78478400	Flanking Active TSS	Osteobl	bone
30	chr8:78477800-78478600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:78477800-78478600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:78477800-78478800	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr8:78477800-78478800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:78477800-78479000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:78477800-78479200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr8:78478000-78478200	Active TSS	Liver	Liver
37	chr8:78478000-78478200	Flanking Active TSS	Hela-S3	cervix
38	chr8:78478000-78478400	Enhancers	Fetal Kidney	kidney
39	chr8:78478000-78478600	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr8:78478000-78478600	Enhancers	Fetal Stomach	stomach
41	chr8:78478000-78478800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr8:78478200-78479000	Enhancers	Hela-S3	cervix
43	chr8:78478200-78479800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:78478400-78479200	Enhancers	Osteobl	bone
45	chr8:78478400-78479800	Enhancers	Adipose Nuclei	Adipose
46	chr8:78478400-78481400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr8:78478600-78479600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:78478800-78479800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:78479000-78479600	Weak transcription	Hela-S3	cervix
50	chr8:78479600-78479800	Enhancers	Hela-S3	cervix

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