Variant report

Variant	nsv1020007
Chromosome Location	chr8:78021376-78059834
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:77913714..77915915-chr8:78040609..78042524,2	MCF-7	breast:
2	chr8:77279952..77280528-chr8:78059632..78060309,2	MCF-7	breast:
3	chr12:12217725..12218554-chr8:78049439..78050295,2	MCF-7	breast:
4	chr8:77279748..77280661-chr8:78059587..78060334,4	MCF-7	breast:

Extended variants
information (count: 586 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:586 , 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	rs149873928	chr8:78021448-78021449	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs572661425	chr8:78021457-78021458	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs546448016	chr8:78021462-78021463	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs184432957	chr8:78021473-78021474	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs146529640	chr8:78021486-78021487	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs187192565	chr8:78021501-78021502	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs77484382	chr8:78021520-78021521	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs561337448	chr8:78021546-78021547	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs141110820	chr8:78021552-78021553	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs16939421	chr8:78021585-78021586	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs144781612	chr8:78021638-78021639	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs146714361	chr8:78021654-78021655	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs369640472	chr8:78021713-78021714	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs149169394	chr8:78021751-78021752	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs570814946	chr8:78021770-78021771	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs192837966	chr8:78021798-78021799	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs550056458	chr8:78021830-78021831	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184523839	chr8:78021860-78021861	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535888680	chr8:78021886-78021887	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189431487	chr8:78021893-78021894	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554485319	chr8:78021910-78021911	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115141031	chr8:78021984-78021985	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182221136	chr8:78021998-78021999	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184638583	chr8:78022011-78022012	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12680335	chr8:78022017-78022018	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs143276145	chr8:78022036-78022037	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs13279459	chr8:78022067-78022068	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs113331116	chr8:78022116-78022117	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540645484	chr8:78022145-78022146	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369009131	chr8:78022152-78022153	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559185199	chr8:78022186-78022187	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533065406	chr8:78022187-78022188	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189187333	chr8:78022198-78022199	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533168752	chr8:78022199-78022200	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534217461	chr8:78027027-78027028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs143821932	chr8:78027052-78027053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546016106	chr8:78027053-78027054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185159369	chr8:78027080-78027081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140319171	chr8:78027088-78027089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73693314	chr8:78027109-78027110	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs191203949	chr8:78027196-78027197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575125518	chr8:78027213-78027214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541929820	chr8:78027219-78027220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572323115	chr8:78027257-78027258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs201387618	chr8:78027268-78027269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560316835	chr8:78027270-78027271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527266536	chr8:78027293-78027294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545800188	chr8:78027313-78027314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs183369353	chr8:78027325-78027326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373431481	chr8:78027330-78027331	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
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
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
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	17016436	CNVD
Colorectal cancer	16774939	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
Myelodysplastic syndrome	18508791	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:78020800-78022200	Enhancers	Fetal Heart	heart
2	chr8:78021400-78021800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:78021400-78022200	ZNF genes & repeats	Aorta	Aorta
4	chr8:78027000-78027400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr8:78030000-78030400	Enhancers	NH-A	brain
6	chr8:78030000-78030600	Enhancers	HUVEC	blood vessel
7	chr8:78030000-78031800	Enhancers	Osteobl	bone
8	chr8:78030000-78033000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:78030000-78033000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr8:78030200-78030400	Enhancers	Fetal Muscle Leg	muscle
11	chr8:78030200-78030600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:78030200-78030600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:78030200-78030600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:78030200-78030800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:78030200-78031000	Enhancers	Colon Smooth Muscle	Colon
16	chr8:78030200-78031000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr8:78030200-78031200	Enhancers	Placenta Amnion	Placenta Amnion
18	chr8:78030200-78032800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:78030200-78033200	Enhancers	NHEK	skin
20	chr8:78030400-78030600	Flanking Active TSS	NH-A	brain
21	chr8:78030400-78030800	Enhancers	HSMM	muscle
22	chr8:78030400-78031400	Weak transcription	Fetal Muscle Leg	muscle
23	chr8:78030400-78031800	Enhancers	GM12878-XiMat	blood
24	chr8:78030400-78032800	Enhancers	Hela-S3	cervix
25	chr8:78030600-78030800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:78030600-78030800	Enhancers	NH-A	brain
27	chr8:78030600-78031000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:78030600-78031000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:78030600-78031000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:78030600-78031200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr8:78030600-78031800	Flanking Active TSS	HUVEC	blood vessel
32	chr8:78030600-78032800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:78030600-78032800	Enhancers	HSMMtube	muscle
34	chr8:78030600-78033000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:78030800-78031000	Flanking Active TSS	NH-A	brain
36	chr8:78030800-78031200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:78030800-78031200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:78030800-78031200	Weak transcription	HSMM	muscle
39	chr8:78030800-78031600	Enhancers	HMEC	breast
40	chr8:78030800-78031800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr8:78030800-78032800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:78030800-78032800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:78031000-78031400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:78031000-78031600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:78031000-78032400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:78031000-78033000	Enhancers	NH-A	brain
47	chr8:78031200-78031600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:78031200-78031600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr8:78031200-78032800	Enhancers	HSMM	muscle
50	chr8:78031200-78033000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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