Variant report

Variant	nsv970963
Chromosome Location	chr7:149671940-149692674
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V0E2-7	chr7:149676088-149676122	l_3505_chr7:149670979-149676122_ovary

Extended variants
information (count: 377 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:377 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3111991	chr7:149671999-149672000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11974129	chr7:149672030-149672031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs3102300	chr7:149672048-149672049	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs568415540	chr7:149672111-149672112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568282130	chr7:149672117-149672118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184596633	chr7:149672138-149672139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547554670	chr7:149672157-149672158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570696856	chr7:149672160-149672161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539952653	chr7:149672221-149672222	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs188558939	chr7:149672273-149672274	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs181445296	chr7:149672350-149672351	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs140667646	chr7:149672382-149672383	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs71532670	chr7:149672439-149672440	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs373766332	chr7:149672481-149672482	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs185933593	chr7:149672578-149672579	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs554617428	chr7:149672592-149672593	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs529300159	chr7:149672611-149672612	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs189066620	chr7:149672662-149672663	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs548540801	chr7:149672669-149672670	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs146362360	chr7:149672693-149672694	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs57139542	chr7:149672703-149672704	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs182004477	chr7:149672773-149672774	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs546434740	chr7:149672810-149672811	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs187664398	chr7:149672842-149672843	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs113912779	chr7:149672871-149672872	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs190745571	chr7:149672904-149672905	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs78350164	chr7:149672987-149672988	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs541823674	chr7:149673014-149673015	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs182878048	chr7:149673046-149673047	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs527370992	chr7:149673055-149673056	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs35569307	chr7:149673056-149673057	Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs373855273	chr7:149673067-149673068	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs148801621	chr7:149673068-149673069	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs550017258	chr7:149673081-149673082	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs114041285	chr7:149673105-149673106	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs537879198	chr7:149673107-149673108	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs71532652	chr7:149673108-149673109	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs548164175	chr7:149673133-149673134	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs568258225	chr7:149673182-149673183	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs534248534	chr7:149673193-149673194	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs377374146	chr7:149673212-149673213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71520154	chr7:149673215-149673216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554079335	chr7:149673250-149673251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185509767	chr7:149673286-149673287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558438543	chr7:149673295-149673296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190324202	chr7:149673320-149673321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556924307	chr7:149673331-149673332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576792435	chr7:149673332-149673333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570541723	chr7:149673348-149673349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139305685	chr7:149673357-149673358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149663800-149672000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr7:149670800-149672200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr7:149671400-149672200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:149671600-149672200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:149671600-149672400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:149672000-149672400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr7:149672000-149672400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr7:149672000-149673000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr7:149672200-149672400	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr7:149672200-149672400	Enhancers	Duodenum Mucosa	Duodenum
11	chr7:149672200-149672800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:149672200-149673200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr7:149672200-149673200	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr7:149672200-149673200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:149672400-149672800	Active TSS	H1 Cell Line	embryonic stem cell
16	chr7:149672400-149672800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr7:149672400-149673200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr7:149672400-149673200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr7:149672400-149673200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:149672600-149673000	Active TSS	Primary hematopoietic stem cells	blood
21	chr7:149672800-149673200	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr7:149672800-149673200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr7:149673200-149676000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr7:149676000-149676400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr7:149688400-149688600	Enhancers	Gastric	stomach
26	chr7:149688600-149688800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr7:149688600-149696000	Weak transcription	Gastric	stomach
28	chr7:149689200-149690000	Enhancers	Pancreas	Pancrea
29	chr7:149689200-149690000	Bivalent Enhancer	Stomach Mucosa	stomach
30	chr7:149692000-149700600	Weak transcription	Right Atrium	heart
31	chr7:149692400-149692600	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr7:149692600-149700400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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