Variant report

Variant	nsv888513
Chromosome Location	chr7:78983840-79023504
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:79011096..79013975-chr7:79014209..79017133,2	MCF-7	breast:
2	chr7:79017286..79019685-chr7:79023052..79025297,2	MCF-7	breast:
3	chr7:79011096..79013975-chr7:79014209..79017133,2	MCF-7	breast:
4	chr7:79017286..79019685-chr7:79023052..79025297,2	MCF-7	breast:

Extended variants
information (count: 1196 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1196 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs848936	chr7:78983840-78983841	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570488802	chr7:78983873-78983874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539151042	chr7:78983929-78983930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188991619	chr7:78983963-78983964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148967470	chr7:78983977-78983978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs117803220	chr7:78984023-78984024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554780556	chr7:78984047-78984048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553079635	chr7:78984049-78984050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574828655	chr7:78984050-78984051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572531972	chr7:78984051-78984052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563308388	chr7:78984054-78984055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576718754	chr7:78984077-78984078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs848937	chr7:78984091-78984092	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs558990210	chr7:78984122-78984123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528159796	chr7:78984164-78984165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192736610	chr7:78984189-78984190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73704182	chr7:78984208-78984209	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs10273381	chr7:78984229-78984230	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs550946737	chr7:78984244-78984245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375357600	chr7:78984292-78984293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539415311	chr7:78984303-78984304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147033983	chr7:78984327-78984328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184713130	chr7:78984361-78984362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535947361	chr7:78984404-78984405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554813462	chr7:78984411-78984412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554841898	chr7:78984412-78984413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111319183	chr7:78984486-78984487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574646761	chr7:78984493-78984494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138330548	chr7:78984543-78984544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201727423	chr7:78984560-78984561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73704183	chr7:78984563-78984564	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs199887132	chr7:78984567-78984568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76546276	chr7:78984600-78984601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190033672	chr7:78984610-78984611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375738568	chr7:78984614-78984615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150676003	chr7:78984664-78984665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139427453	chr7:78984665-78984666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73704185	chr7:78984668-78984669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199835972	chr7:78984672-78984673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376407783	chr7:78984680-78984681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541556941	chr7:78984699-78984700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377436579	chr7:78984788-78984789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144073923	chr7:78984813-78984814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543370547	chr7:78984853-78984854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572648625	chr7:78984908-78984909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541515003	chr7:78984932-78984933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10277173	chr7:78984936-78984937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73156099	chr7:78984964-78984965	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs530984144	chr7:78984977-78984978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551270453	chr7:78984982-78984983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78980800-78986200	Weak transcription	Brain Substantia Nigra	brain
2	chr7:78982000-78986000	Weak transcription	Brain Hippocampus Middle	brain
3	chr7:78982000-78992000	Weak transcription	NHLF	lung
4	chr7:78982200-78986000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:78982200-78986200	Weak transcription	Brain Anterior Caudate	brain
6	chr7:78982400-78986400	Weak transcription	Fetal Heart	heart
7	chr7:78982600-78986000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr7:78983000-78985400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:78983000-78986600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:78983400-78986200	Weak transcription	Brain Angular Gyrus	brain
11	chr7:78986000-78986200	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr7:78986000-78986600	Enhancers	Brain Hippocampus Middle	brain
13	chr7:78986000-78986800	Enhancers	Brain Cingulate Gyrus	brain
14	chr7:78986000-78987000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr7:78986200-78986400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr7:78986200-78986800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:78986200-78986800	Enhancers	Brain Anterior Caudate	brain
18	chr7:78986200-78986800	Enhancers	Brain Substantia Nigra	brain
19	chr7:78986200-78987000	Enhancers	Brain Angular Gyrus	brain
20	chr7:78986400-78986800	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr7:78986400-78987000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:78986400-78987000	Enhancers	Fetal Heart	heart
23	chr7:78986600-78986800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:78986800-78987000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr7:78992000-78992400	Enhancers	Liver	Liver
26	chr7:78992000-78992600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:78992400-78993400	Weak transcription	Liver	Liver
28	chr7:78993400-78993600	Enhancers	Liver	Liver
29	chr7:78993400-78993800	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr7:79001600-79002000	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr7:79002000-79005800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr7:79004400-79004600	Enhancers	Brain Substantia Nigra	brain
33	chr7:79005800-79006600	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr7:79005800-79007000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:79005800-79007200	Enhancers	Ovary	ovary
36	chr7:79006000-79007000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:79006400-79006600	Weak transcription	Brain Substantia Nigra	brain
38	chr7:79006400-79006800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:79006600-79006800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:79006600-79007200	Enhancers	Brain Substantia Nigra	brain
41	chr7:79006600-79007200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr7:79007200-79007800	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr7:79007200-79015800	Weak transcription	Brain Substantia Nigra	brain
44	chr7:79009600-79010000	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr7:79009600-79010000	Enhancers	HSMMtube	muscle
46	chr7:79010000-79011200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr7:79011200-79011400	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr7:79011200-79011800	Enhancers	Fetal Brain Male	brain
49	chr7:79013400-79016000	Weak transcription	NHLF	lung
50	chr7:79015400-79015600	Weak transcription	A549	lung

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