Variant report

Variant	nsv889451
Chromosome Location	chr7:149772855-149844639
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V0E2-2	chr7:149775097-149776161	ucscGeneNc_uc003whi_1
2	lnc-ATP6V0E2-2	chr7:149773639-149773744	ENSG00000241449
3	lnc-ATP6V0E2-2	chr7:149774721-149774910	ucscGeneNc_uc003whi_1

Extended variants
information (count: 1434 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1434 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535153714	chr7:149773639-149773640	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs3111900	chr7:149773739-149773740	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs559155741	chr7:149774400-149774401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373278462	chr7:149774412-149774413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2373660	chr7:149774415-149774416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2373661	chr7:149774438-149774439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571674235	chr7:149774459-149774460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2373662	chr7:149774462-149774463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2373663	chr7:149774463-149774464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138182013	chr7:149774478-149774479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142810201	chr7:149774483-149774484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2373664	chr7:149774501-149774502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2373665	chr7:149774524-149774525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2373666	chr7:149774528-149774529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192500555	chr7:149774586-149774587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536476768	chr7:149774627-149774628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529696508	chr7:149774662-149774663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566866443	chr7:149774699-149774700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs72540358	chr7:149774724-149774725	Enhancers	lncRNA	n/a	Overlapped CNVs	mRNA abundance
20	rs2533814	chr7:149774766-149774767	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs558779170	chr7:149774769-149774770	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs2628940	chr7:149774773-149774774	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs563287912	chr7:149774815-149774816	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs531157481	chr7:149774829-149774830	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs2628941	chr7:149774835-149774836	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs552884966	chr7:149774845-149774846	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs36027316	chr7:149774900-149774901	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs6976411	chr7:149774907-149774908	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs554400337	chr7:149774929-149774930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375371472	chr7:149775006-149775007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574452170	chr7:149775007-149775008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2628942	chr7:149775021-149775022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35442693	chr7:149775040-149775041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114441972	chr7:149775045-149775046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532302554	chr7:149775047-149775048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115058941	chr7:149775053-149775054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562770793	chr7:149775054-149775055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs34291437	chr7:149775070-149775071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372927706	chr7:149775111-149775112	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs530847993	chr7:149775112-149775113	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs28495233	chr7:149775200-149775201	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs202178894	chr7:149775203-149775204	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs2628943	chr7:149775207-149775208	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs185085312	chr7:149775217-149775218	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs530203137	chr7:149775274-149775275	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs2628944	chr7:149775282-149775283	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs186642676	chr7:149775286-149775287	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs113524044	chr7:149775327-149775328	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs566726943	chr7:149775353-149775354	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs370542751	chr7:149775377-149775378	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	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
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Ovarian cancer	21781307	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149774400-149774800	Enhancers	Primary T cells from cord blood	blood
2	chr7:149774600-149775200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr7:149774600-149775200	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr7:149774800-149775000	Enhancers	Dnd41	blood
5	chr7:149774800-149775200	Enhancers	Primary T cells fromperipheralblood	blood
6	chr7:149774800-149775200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
7	chr7:149776400-149776800	ZNF genes & repeats	Lung	lung
8	chr7:149776800-149777200	Weak transcription	Lung	lung
9	chr7:149779200-149779800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr7:149779200-149779800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:149783600-149783800	Enhancers	Fetal Muscle Leg	muscle
12	chr7:149784200-149787400	Weak transcription	Fetal Muscle Leg	muscle
13	chr7:149784400-149785000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:149784600-149784800	Enhancers	Adipose Nuclei	Adipose
15	chr7:149784800-149786000	Weak transcription	Adipose Nuclei	Adipose
16	chr7:149785000-149786200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:149786000-149787000	Enhancers	Adipose Nuclei	Adipose
18	chr7:149786600-149786800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:149786600-149788200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:149787400-149788200	Enhancers	Fetal Muscle Leg	muscle
21	chr7:149788000-149788200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr7:149790600-149791200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr7:149790600-149791800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr7:149790800-149791400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr7:149791000-149791800	Enhancers	Fetal Muscle Trunk	muscle
26	chr7:149791800-149793600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr7:149793400-149793800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr7:149793400-149794000	Enhancers	Hela-S3	cervix
29	chr7:149793400-149794200	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr7:149793400-149794200	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr7:149793800-149794000	Enhancers	Fetal Muscle Trunk	muscle
32	chr7:149794000-149797200	Weak transcription	Hela-S3	cervix
33	chr7:149794200-149795400	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr7:149795600-149795800	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr7:149797200-149798000	Enhancers	Hela-S3	cervix
36	chr7:149798000-149798400	Flanking Active TSS	Hela-S3	cervix
37	chr7:149798400-149798600	Enhancers	Hela-S3	cervix
38	chr7:149798600-149798800	Flanking Active TSS	Hela-S3	cervix
39	chr7:149798800-149799200	Enhancers	Hela-S3	cervix
40	chr7:149808000-149808200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
41	chr7:149809200-149809400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr7:149809200-149809400	Bivalent Enhancer	Fetal Stomach	stomach
43	chr7:149809400-149809600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr7:149809400-149810400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:149809800-149810400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:149810400-149812400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:149812400-149813000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr7:149816800-149817200	Enhancers	HepG2	liver
49	chr7:149817200-149822600	Weak transcription	HepG2	liver
50	chr7:149822600-149824600	Enhancers	HepG2	liver

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