Variant report

Variant	nsv607666
Chromosome Location	chr7:79029872-79063644
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:79053495..79057290-chr7:79076509..79078816,3	MCF-7	breast:
2	chr7:78977361..78978896-chr7:79043903..79046403,2	K562	blood:
3	chr7:79036736..79038245-chr7:79041747..79043274,2	K562	blood:
4	chr7:79036736..79038245-chr7:79041747..79043274,2	K562	blood:

Extended variants
information (count: 1345 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1345 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17152429	chr7:79029872-79029873	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539981197	chr7:79029914-79029915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112926540	chr7:79029935-79029936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569948943	chr7:79029943-79029944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539212655	chr7:79029955-79029956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559033015	chr7:79029970-79029971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572652037	chr7:79030082-79030083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534724190	chr7:79030147-79030148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553202007	chr7:79030159-79030160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554975074	chr7:79030181-79030182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75364803	chr7:79030197-79030198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7807048	chr7:79030243-79030244	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs557483487	chr7:79030286-79030287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143991956	chr7:79030294-79030295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545144061	chr7:79030305-79030306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565045347	chr7:79030430-79030431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372766771	chr7:79030439-79030440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527544052	chr7:79030455-79030456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77800230	chr7:79030527-79030528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190207903	chr7:79030543-79030544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181910934	chr7:79030580-79030581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549503968	chr7:79030591-79030592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538793841	chr7:79030640-79030641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569728623	chr7:79030673-79030674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs117568894	chr7:79030701-79030702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552697597	chr7:79030720-79030721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146505907	chr7:79030722-79030723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187286453	chr7:79030741-79030742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7811441	chr7:79030763-79030764	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs34523827	chr7:79030839-79030840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568509446	chr7:79030852-79030853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537441670	chr7:79030879-79030880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543809758	chr7:79030895-79030896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4730806	chr7:79030922-79030923	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs577229349	chr7:79030926-79030927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs118151324	chr7:79030951-79030952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139994193	chr7:79030956-79030957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533934977	chr7:79030992-79030993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191032419	chr7:79031027-79031028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4730807	chr7:79031123-79031124	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs560839157	chr7:79031205-79031206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368667271	chr7:79031347-79031348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs67627178	chr7:79031453-79031454	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs542966659	chr7:79031458-79031459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563248478	chr7:79031464-79031465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532206308	chr7:79031476-79031477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551964800	chr7:79031479-79031480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566297939	chr7:79031498-79031499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs10256590	chr7:79031570-79031571	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs373323089	chr7:79031600-79031601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79017600-79030400	Weak transcription	Brain Substantia Nigra	brain
2	chr7:79027800-79030400	Weak transcription	Adipose Nuclei	Adipose
3	chr7:79027800-79032200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:79027800-79032200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:79027800-79033200	Weak transcription	NHDF-Ad	bronchial
6	chr7:79028000-79030400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr7:79028000-79030600	Weak transcription	Brain Anterior Caudate	brain
8	chr7:79028000-79032200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr7:79028000-79032600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:79028000-79033200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:79028000-79033200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr7:79028000-79034600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr7:79028200-79032200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:79028200-79032200	Weak transcription	Osteobl	bone
15	chr7:79028400-79030400	Weak transcription	Brain Hippocampus Middle	brain
16	chr7:79028800-79032200	Weak transcription	NHLF	lung
17	chr7:79029400-79031000	Enhancers	Fetal Lung	lung
18	chr7:79029800-79031000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:79029800-79031000	Enhancers	Brain Angular Gyrus	brain
20	chr7:79029800-79036400	Enhancers	Liver	Liver
21	chr7:79030400-79030800	Enhancers	Brain Hippocampus Middle	brain
22	chr7:79030400-79030800	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr7:79030400-79030800	Enhancers	Brain Substantia Nigra	brain
24	chr7:79030400-79030800	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr7:79030400-79031000	Enhancers	Adipose Nuclei	Adipose
26	chr7:79030600-79031000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:79030600-79031000	Enhancers	Brain Anterior Caudate	brain
28	chr7:79030600-79031200	Enhancers	HSMMtube	muscle
29	chr7:79030800-79032400	Weak transcription	Brain Hippocampus Middle	brain
30	chr7:79030800-79034800	Weak transcription	Brain Substantia Nigra	brain
31	chr7:79030800-79036800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr7:79031000-79032000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:79031000-79032400	Weak transcription	Fetal Lung	lung
34	chr7:79031000-79033200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:79031000-79033200	Weak transcription	Brain Angular Gyrus	brain
36	chr7:79031000-79034800	Weak transcription	Adipose Nuclei	Adipose
37	chr7:79031000-79040800	Weak transcription	Brain Anterior Caudate	brain
38	chr7:79032000-79032200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:79032200-79032800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:79032200-79033400	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr7:79032200-79033600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:79032200-79033600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:79032200-79033600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr7:79032200-79033600	Enhancers	Osteobl	bone
45	chr7:79032200-79033800	Enhancers	NHLF	lung
46	chr7:79032400-79032600	Enhancers	Brain Hippocampus Middle	brain
47	chr7:79032400-79033800	Enhancers	Fetal Lung	lung
48	chr7:79032600-79033000	Weak transcription	Brain Hippocampus Middle	brain
49	chr7:79032600-79033600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:79032800-79033000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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