Variant report

Variant	nsv470344
Chromosome Location	chr7:79659914-79701003
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:78216508..78217230-chr7:79676834..79677486,3	MCF-7	breast:
2	chr7:79689598..79690194-chr7:81099018..81099573,2	K562	blood:
3	chr7:78926978..78927922-chr7:79676854..79677685,3	MCF-7	breast:
4	chr7:79689612..79690202-chr7:80082690..80083447,3	MCF-7	breast:
5	chr7:78901152..78901823-chr7:79676996..79677853,2	MCF-7	breast:
6	chr7:79689284..79689874-chr7:80021349..80022344,3	MCF-7	breast:
7	chr7:79665955..79668268-chr7:79776859..79779207,2	K562	blood:

Extended variants
information (count: 1282 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1282 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386715051	chr7:79659914-79659915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77212469	chr7:79659915-79659916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183325190	chr7:79659922-79659923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572773169	chr7:79659924-79659925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374653388	chr7:79660022-79660023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554086056	chr7:79660067-79660068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10228634	chr7:79660084-79660085	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs4731142	chr7:79660155-79660156	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs530773022	chr7:79660157-79660158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188783756	chr7:79660160-79660161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150147655	chr7:79660216-79660217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4731143	chr7:79660258-79660259	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs200240472	chr7:79660259-79660260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4731144	chr7:79660271-79660272	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs373604213	chr7:79660284-79660285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs193070920	chr7:79660333-79660334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576401085	chr7:79660339-79660340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138215194	chr7:79660364-79660365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546882475	chr7:79660365-79660366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149599610	chr7:79660400-79660401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566850027	chr7:79660402-79660403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558075521	chr7:79660428-79660429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4731145	chr7:79660431-79660432	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs534046590	chr7:79660454-79660455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555305436	chr7:79660460-79660461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373279972	chr7:79660484-79660485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569241312	chr7:79660498-79660499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4731146	chr7:79660535-79660536	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs184847552	chr7:79660553-79660554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17153277	chr7:79660599-79660600	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs575454182	chr7:79660604-79660605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536042756	chr7:79660630-79660631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544354185	chr7:79660683-79660684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564142721	chr7:79660695-79660696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141981150	chr7:79660747-79660748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540359672	chr7:79660752-79660753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560177176	chr7:79660766-79660767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186644251	chr7:79660852-79660853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73374541	chr7:79660896-79660897	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs577752545	chr7:79660898-79660899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146384641	chr7:79660899-79660900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551920469	chr7:79660967-79660968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191104701	chr7:79660980-79660981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534013725	chr7:79661032-79661033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10232647	chr7:79661054-79661055	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs566412627	chr7:79661070-79661071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536199898	chr7:79661099-79661100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538572054	chr7:79661111-79661112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575461261	chr7:79661121-79661122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554086965	chr7:79661146-79661147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
Breast cancer	22522925	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79656800-79662400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:79661200-79661600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:79662400-79662800	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr7:79662800-79665000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:79665000-79665200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr7:79665000-79665400	Enhancers	Fetal Brain Female	brain
7	chr7:79665200-79665600	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr7:79665200-79666400	Enhancers	Fetal Lung	lung
9	chr7:79665600-79666400	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr7:79666400-79668200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr7:79666400-79668600	Weak transcription	Fetal Lung	lung
12	chr7:79668200-79669200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:79668200-79669200	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr7:79668400-79669200	Enhancers	Adipose Nuclei	Adipose
15	chr7:79668600-79668800	Enhancers	Fetal Intestine Large	intestine
16	chr7:79668600-79669400	Enhancers	Fetal Lung	lung
17	chr7:79668800-79669200	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr7:79668800-79669400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr7:79669200-79670000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr7:79670000-79671800	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr7:79676000-79676200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr7:79676200-79677200	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr7:79676400-79676600	Enhancers	Fetal Lung	lung
24	chr7:79676400-79678000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr7:79677200-79677600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr7:79677600-79678200	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr7:79678000-79678400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr7:79678200-79683400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr7:79682400-79682800	Enhancers	Gastric	stomach
30	chr7:79682400-79682800	Enhancers	HepG2	liver
31	chr7:79683400-79683600	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr7:79683600-79684000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr7:79683600-79684600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:79683600-79684600	Enhancers	NHLF	lung
35	chr7:79684000-79684800	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr7:79688800-79689600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr7:79689000-79690000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr7:79690200-79696400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:79690800-79691200	ZNF genes & repeats	Fetal Lung	lung
40	chr7:79691200-79692400	Weak transcription	Fetal Lung	lung
41	chr7:79692400-79693000	Enhancers	Fetal Lung	lung
42	chr7:79692600-79692800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:79692600-79692800	Enhancers	Adipose Nuclei	Adipose
44	chr7:79692600-79693200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:79692800-79693000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:79692800-79693200	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr7:79692800-79693200	Enhancers	NHLF	lung
48	chr7:79692800-79693200	Active TSS	Osteobl	bone
49	chr7:79692800-79693400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:79693000-79693200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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