Variant report

Variant	nsv522955
Chromosome Location	chr7:78092725-78095872
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 151 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:151 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9649305	chr7:78092725-78092726	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs556375548	chr7:78092729-78092730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191111258	chr7:78092751-78092752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530378663	chr7:78092767-78092768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150738264	chr7:78092794-78092795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531608121	chr7:78092845-78092846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551317809	chr7:78092857-78092858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183708282	chr7:78092868-78092869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565280986	chr7:78092870-78092871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148368435	chr7:78092899-78092900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548051523	chr7:78092904-78092905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141568554	chr7:78092926-78092927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536812394	chr7:78092927-78092928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147543091	chr7:78092947-78092948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568930203	chr7:78092958-78092959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541871784	chr7:78092972-78092973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188413618	chr7:78092992-78092993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140077165	chr7:78092993-78092994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145596300	chr7:78092999-78093000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554006688	chr7:78093018-78093019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573770672	chr7:78093029-78093030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147155052	chr7:78093043-78093044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191618747	chr7:78093044-78093045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113867396	chr7:78093073-78093074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs199990154	chr7:78093074-78093075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35595676	chr7:78093075-78093076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114324363	chr7:78093098-78093099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs75332595	chr7:78093101-78093102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145080215	chr7:78093172-78093173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561590948	chr7:78093205-78093206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111936791	chr7:78093207-78093208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550350419	chr7:78093249-78093250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564358077	chr7:78093298-78093299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570259951	chr7:78093312-78093313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531474303	chr7:78093347-78093348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571374120	chr7:78093438-78093439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149659067	chr7:78093452-78093453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs80087746	chr7:78093471-78093472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533748231	chr7:78093484-78093485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553793443	chr7:78093509-78093510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533190323	chr7:78093525-78093526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79524818	chr7:78093556-78093557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536140144	chr7:78093568-78093569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190232702	chr7:78093591-78093592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575819391	chr7:78093592-78093593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545196589	chr7:78093609-78093610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558978870	chr7:78093690-78093691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546831900	chr7:78093743-78093744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs6970129	chr7:78093755-78093756	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs566629021	chr7:78093762-78093763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Cancer	20164920	CNVD
Prostate cancer	18632612	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
Pancreatic cancer	17952125	CNVD
Williams-beuren syndrome	16826523	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	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
Cancer	20164919	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78089600-78093000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr7:78092000-78093600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr7:78092200-78093400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr7:78092400-78093200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr7:78092400-78093800	Enhancers	Ovary	ovary
6	chr7:78092600-78092800	Weak transcription	Brain Substantia Nigra	brain
7	chr7:78092600-78093600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr7:78092800-78093000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:78092800-78093800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr7:78092800-78093800	Enhancers	Brain Hippocampus Middle	brain
11	chr7:78092800-78093800	Enhancers	Brain Substantia Nigra	brain
12	chr7:78093000-78093400	Enhancers	Brain Germinal Matrix	brain
13	chr7:78093000-78093400	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr7:78093000-78093800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr7:78093200-78093400	Enhancers	H9 Cell Line	embryonic stem cell
16	chr7:78093200-78095200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr7:78093400-78093600	Enhancers	Brain Anterior Caudate	brain
18	chr7:78093400-78095200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr7:78093400-78099200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr7:78093600-78094600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr7:78093600-78094800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr7:78093600-78095200	Weak transcription	Brain Anterior Caudate	brain
23	chr7:78093800-78095000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr7:78093800-78095000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr7:78093800-78095200	Weak transcription	Brain Hippocampus Middle	brain
26	chr7:78093800-78096000	Weak transcription	Brain Substantia Nigra	brain
27	chr7:78094600-78095800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr7:78094800-78096600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr7:78095000-78095800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr7:78095000-78096000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr7:78095000-78096200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr7:78095000-78096400	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr7:78095000-78096600	Enhancers	Brain Angular Gyrus	brain
34	chr7:78095200-78095600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr7:78095200-78095600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr7:78095200-78095600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr7:78095200-78096000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr7:78095200-78096200	Enhancers	H9 Cell Line	embryonic stem cell
39	chr7:78095200-78096400	Enhancers	Brain Hippocampus Middle	brain
40	chr7:78095200-78096600	Enhancers	H1 Cell Line	embryonic stem cell
41	chr7:78095200-78096800	Enhancers	Brain Anterior Caudate	brain

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