Variant report

Variant	nsv1023323
Chromosome Location	chr7:78785484-78808172
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	chr7:78218746..78219372-chr7:78805948..78806448,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GNAT3-8	chr7:78802389-78804340	NONHSAT121698

Extended variants
information (count: 735 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:735 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546132263	chr7:78785495-78785496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560015693	chr7:78785499-78785500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528441289	chr7:78785532-78785533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542278554	chr7:78785562-78785563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184124420	chr7:78785584-78785585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12112164	chr7:78785602-78785603	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs541879473	chr7:78785637-78785638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188058299	chr7:78785648-78785649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569709297	chr7:78785684-78785685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116971922	chr7:78785747-78785748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565982777	chr7:78785799-78785800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146465053	chr7:78785812-78785813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547810409	chr7:78785821-78785822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191748816	chr7:78785828-78785829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536792498	chr7:78785838-78785839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184297222	chr7:78785938-78785939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111792846	chr7:78785940-78785941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540039404	chr7:78785941-78785942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530955553	chr7:78785966-78785967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553375463	chr7:78785977-78785978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550348162	chr7:78786002-78786003	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573605027	chr7:78786006-78786007	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139450266	chr7:78786051-78786052	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562103422	chr7:78786053-78786054	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575716675	chr7:78786057-78786058	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs36017637	chr7:78786074-78786075	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs564628038	chr7:78786106-78786107	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74804484	chr7:78786120-78786121	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370745411	chr7:78786198-78786199	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145468493	chr7:78786244-78786245	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533058212	chr7:78786261-78786262	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367953188	chr7:78786306-78786307	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552385523	chr7:78786308-78786309	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559364632	chr7:78786312-78786313	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75478681	chr7:78786355-78786356	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188760159	chr7:78786372-78786373	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535442764	chr7:78786412-78786413	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79784773	chr7:78786430-78786431	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs118152540	chr7:78786444-78786445	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536668930	chr7:78786447-78786448	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75013306	chr7:78786459-78786460	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568971257	chr7:78786460-78786461	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539620217	chr7:78786466-78786467	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553578334	chr7:78786470-78786471	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181492430	chr7:78786482-78786483	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148891844	chr7:78786484-78786485	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184562329	chr7:78786572-78786573	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537980281	chr7:78786611-78786612	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367615434	chr7:78786635-78786636	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544611284	chr7:78786636-78786637	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Neurodevelopmental disorder	22521361	CNVD
Williams Syndrome	20824207	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Glioma	20126413	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78781800-78794400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:78786000-78794800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:78788400-78788800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:78789200-78789600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:78790600-78791000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:78790600-78791000	Enhancers	Liver	Liver
7	chr7:78790600-78791800	Enhancers	Brain Substantia Nigra	brain
8	chr7:78791600-78791800	Enhancers	Ovary	ovary
9	chr7:78793000-78793600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:78793200-78793600	Enhancers	Adipose Nuclei	Adipose
11	chr7:78794400-78795400	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr7:78798600-78804800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:78800000-78803200	Weak transcription	Aorta	Aorta
14	chr7:78801400-78801800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:78804200-78806200	Enhancers	Brain Angular Gyrus	brain
16	chr7:78804800-78805400	Enhancers	Brain Hippocampus Middle	brain
17	chr7:78804800-78805600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:78804800-78805800	Enhancers	Brain Substantia Nigra	brain
19	chr7:78804800-78806200	Enhancers	Brain Cingulate Gyrus	brain
20	chr7:78805000-78806000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr7:78805400-78805600	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr7:78805600-78806200	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr7:78805600-78814800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:78806000-78806200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:78806000-78806400	Active TSS	Osteobl	bone
26	chr7:78806200-78806400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:78806200-78806400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr7:78806200-78806400	Enhancers	Fetal Lung	lung
29	chr7:78806200-78806600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:78806200-78807000	Enhancers	Liver	Liver
31	chr7:78806600-78806800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:78806600-78807200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:78806800-78807200	Enhancers	Fetal Heart	heart

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