Variant report

Variant	nsv464388
Chromosome Location	chr7:13828099-13868913
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:13859282..13862271-chr7:13864269..13866964,2	K562	blood:
2	chr17:57922547..57924821-chr7:13833856..13835517,2	MCF-7	breast:
3	chr7:13859282..13862271-chr7:13864269..13866964,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ETV1-3	chr7:13860505-13860772	NONHSAT119257
2	lnc-ETV1-3	chr7:13865085-13865175	NONHSAT119257

Extended variants
information (count: 1333 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1333 , 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	rs7794026	chr7:13828099-13828100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191988068	chr7:13828105-13828106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73267685	chr7:13828117-13828118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183328525	chr7:13828170-13828171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527740133	chr7:13828177-13828178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547781328	chr7:13828225-13828226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs58032706	chr7:13828226-13828227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138645222	chr7:13828245-13828246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs367603217	chr7:13828246-13828247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs80153980	chr7:13828253-13828254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560967982	chr7:13828261-13828262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187666632	chr7:13828264-13828265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556877520	chr7:13828278-13828279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570327992	chr7:13828289-13828290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192070071	chr7:13828346-13828347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374589471	chr7:13828385-13828386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529987871	chr7:13828514-13828515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558038912	chr7:13828587-13828588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546900606	chr7:13828624-13828625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572115450	chr7:13828632-13828633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534410541	chr7:13828644-13828645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73267687	chr7:13828667-13828668	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs12699556	chr7:13828699-13828700	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs36028253	chr7:13828712-13828713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182799172	chr7:13828740-13828741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563259443	chr7:13828748-13828749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573573552	chr7:13828754-13828755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542811881	chr7:13828766-13828767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10269597	chr7:13828779-13828780	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs188037053	chr7:13828785-13828786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10224655	chr7:13828860-13828861	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs138970586	chr7:13828873-13828874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564383668	chr7:13828911-13828912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142216839	chr7:13828970-13828971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533377355	chr7:13828997-13828998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10224804	chr7:13829003-13829004	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs59664647	chr7:13829005-13829006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535734278	chr7:13829009-13829010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184368282	chr7:13829030-13829031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566139489	chr7:13829033-13829034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145880636	chr7:13829038-13829039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557416820	chr7:13829046-13829047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187723687	chr7:13829056-13829057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192663133	chr7:13829059-13829060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573609948	chr7:13829080-13829081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115790836	chr7:13829082-13829083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs28582552	chr7:13829107-13829108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184699376	chr7:13829142-13829143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189058257	chr7:13829155-13829156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545152203	chr7:13829159-13829160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13821800-13840400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:13830400-13830800	Enhancers	Osteobl	bone
3	chr7:13830800-13833600	Weak transcription	Osteobl	bone
4	chr7:13833600-13834000	Enhancers	Osteobl	bone
5	chr7:13833600-13836800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:13835800-13836000	Enhancers	H9 Cell Line	embryonic stem cell
7	chr7:13835800-13836000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr7:13836000-13836800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:13836000-13837000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:13836800-13837200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:13836800-13837600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:13836800-13837600	Enhancers	HUVEC	blood vessel
13	chr7:13836800-13837800	Enhancers	H9 Cell Line	embryonic stem cell
14	chr7:13836800-13838000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr7:13837000-13837400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr7:13837000-13837800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr7:13837000-13837800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr7:13837000-13837800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr7:13837000-13837800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr7:13837000-13837800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr7:13837000-13838000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr7:13837200-13837600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr7:13837200-13837800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr7:13837400-13840600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr7:13837600-13840400	Weak transcription	HUVEC	blood vessel
26	chr7:13837600-13845000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr7:13837800-13840400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr7:13837800-13840600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr7:13837800-13840600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr7:13837800-13840600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr7:13837800-13840600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr7:13837800-13840800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr7:13838000-13839600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr7:13838000-13840200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr7:13839600-13841200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:13839600-13841400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr7:13839600-13841600	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr7:13839800-13840600	Enhancers	Fetal Brain Female	brain
39	chr7:13840000-13841600	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr7:13840200-13841400	Enhancers	Osteobl	bone
41	chr7:13840200-13841600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:13840200-13841600	Enhancers	NH-A	brain
43	chr7:13840200-13843000	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr7:13840400-13840800	Enhancers	HMEC	breast
45	chr7:13840400-13841000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr7:13840400-13841200	Enhancers	HUVEC	blood vessel
47	chr7:13840400-13841600	Enhancers	NHDF-Ad	bronchial
48	chr7:13840400-13841800	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr7:13840600-13840800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr7:13840600-13841000	Enhancers	HUES48 Cell Line	embryonic stem cell

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