Variant report

Variant	nsv891057
Chromosome Location	chr8:79340828-79394667
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:79305220..79306244-chr8:79343794..79344725,3	MCF-7	breast:
2	chr8:79304240..79306156-chr8:79340487..79342636,2	MCF-7	breast:
3	chr8:79305386..79305931-chr8:79343758..79344739,2	MCF-7	breast:
4	chr8:79162917..79163612-chr8:79343717..79344374,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IL7-1	chr8:79392489-79392570	ENSG00000254266
2	lnc-IL7-1	chr8:79343091-79343183	ENSG00000254266

Extended variants
information (count: 778 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:778 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539211977	chr8:79342018-79342019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557653245	chr8:79342052-79342053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373485428	chr8:79342069-79342070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571123565	chr8:79342074-79342075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138552873	chr8:79342078-79342079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544972599	chr8:79342109-79342110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114527476	chr8:79342111-79342112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188771518	chr8:79342139-79342140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550776971	chr8:79342169-79342170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573301123	chr8:79342198-79342199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148849839	chr8:79342359-79342360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112176961	chr8:79342434-79342435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144851741	chr8:79342435-79342436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs397891306	chr8:79342457-79342458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574814342	chr8:79342459-79342460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377569597	chr8:79342550-79342551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143474462	chr8:79342554-79342555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368966837	chr8:79342591-79342592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527447172	chr8:79342645-79342646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552465827	chr8:79342709-79342710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564785071	chr8:79342721-79342722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs137887598	chr8:79342722-79342723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78936911	chr8:79342725-79342726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181561983	chr8:79342726-79342727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560613942	chr8:79342779-79342780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535442890	chr8:79342784-79342785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146036185	chr8:79342801-79342802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566013562	chr8:79342811-79342812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138745472	chr8:79342851-79342852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75021380	chr8:79342913-79342914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184598240	chr8:79343013-79343014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13253819	chr8:79343069-79343070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555230975	chr8:79343079-79343080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573588638	chr8:79343109-79343110	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs540620759	chr8:79343126-79343127	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs553051411	chr8:79343195-79343196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577630118	chr8:79343220-79343221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35487809	chr8:79343275-79343276	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs564697407	chr8:79343280-79343281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141779773	chr8:79343308-79343309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374735412	chr8:79343326-79343327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150769962	chr8:79343356-79343357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562321447	chr8:79343357-79343358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13254983	chr8:79343367-79343368	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs547441685	chr8:79343441-79343442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566052035	chr8:79343463-79343464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533295770	chr8:79343535-79343536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35486334	chr8:79343553-79343554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78739859	chr8:79343596-79343597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190444455	chr8:79343625-79343626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
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
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
Colorectal cancer	19455253	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	21251322	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:79342000-79343000	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr8:79342000-79343200	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr8:79342000-79343200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr8:79342400-79343200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr8:79342600-79343000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr8:79342800-79357200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:79349600-79351000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:79349600-79351800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr8:79350000-79351200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr8:79350000-79351400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr8:79350000-79351400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr8:79350000-79351800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr8:79350400-79351600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr8:79350600-79351200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr8:79350800-79351400	Enhancers	H1 Cell Line	embryonic stem cell
16	chr8:79351000-79357000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:79351200-79351600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr8:79351200-79353200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr8:79351400-79353200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr8:79351400-79353400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr8:79351400-79357200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr8:79351600-79351800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr8:79351600-79353200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr8:79351800-79353200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr8:79351800-79353400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr8:79351800-79353400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr8:79353200-79354000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr8:79353200-79354400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr8:79353200-79354600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr8:79353200-79354600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr8:79353400-79354200	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr8:79353400-79354400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr8:79353400-79354600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr8:79353600-79354000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:79353800-79354000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr8:79353800-79354200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr8:79354000-79356600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr8:79354200-79355400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr8:79354200-79356800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr8:79354200-79357000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr8:79354400-79356600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr8:79354400-79357000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr8:79354600-79356600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr8:79354600-79356800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr8:79354600-79357200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr8:79355200-79356000	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr8:79355400-79355600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr8:79355400-79356800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr8:79355600-79355800	Enhancers	Primary T cells from cord blood	blood
50	chr8:79355600-79355800	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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