Variant report

Variant	nsv888514
Chromosome Location	chr7:78987060-79061837
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:79036736..79038245-chr7:79041747..79043274,2	K562	blood:
2	chr7:79011096..79013975-chr7:79014209..79017133,2	MCF-7	breast:
3	chr7:79036736..79038245-chr7:79041747..79043274,2	K562	blood:
4	chr7:79017286..79019685-chr7:79023052..79025297,2	MCF-7	breast:
5	chr7:78977361..78978896-chr7:79043903..79046403,2	K562	blood:
6	chr7:79053495..79057290-chr7:79076509..79078816,3	MCF-7	breast:
7	chr7:79017286..79019685-chr7:79023052..79025297,2	MCF-7	breast:
8	chr7:79011096..79013975-chr7:79014209..79017133,2	MCF-7	breast:

No data

Extended variants
information (count: 2601 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:2601 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1918935	chr7:78987060-78987061	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs557660344	chr7:78987122-78987123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576340771	chr7:78987124-78987125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375660542	chr7:78987128-78987129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577156019	chr7:78987132-78987133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565411200	chr7:78987136-78987137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527758504	chr7:78987148-78987149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546435392	chr7:78987157-78987158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558130829	chr7:78987180-78987181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190354899	chr7:78987188-78987189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372952326	chr7:78987198-78987199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182977931	chr7:78987215-78987216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545835646	chr7:78987267-78987268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564721960	chr7:78987374-78987375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546196284	chr7:78987395-78987396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375022227	chr7:78987410-78987411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187398798	chr7:78987413-78987414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573380556	chr7:78987424-78987425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571396720	chr7:78987483-78987484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62458974	chr7:78987497-78987498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533871687	chr7:78987503-78987504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs848951	chr7:78987504-78987505	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs848952	chr7:78987520-78987521	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs374408050	chr7:78987556-78987557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148482624	chr7:78987558-78987559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556780969	chr7:78987560-78987561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576645491	chr7:78987561-78987562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34599162	chr7:78987580-78987581	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs10485955	chr7:78987637-78987638	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs375840285	chr7:78987716-78987717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192241418	chr7:78987719-78987720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs848953	chr7:78987768-78987769	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs559917096	chr7:78987783-78987784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564420655	chr7:78987804-78987805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183679876	chr7:78987812-78987813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs60082502	chr7:78987862-78987863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549025099	chr7:78987867-78987868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562838165	chr7:78987917-78987918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531488770	chr7:78987923-78987924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs848954	chr7:78987947-78987948	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs571254038	chr7:78987962-78987963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189224890	chr7:78987974-78987975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527392598	chr7:78988042-78988043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142615515	chr7:78988048-78988049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567881823	chr7:78988104-78988105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192304972	chr7:78988183-78988184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371184324	chr7:78988239-78988240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150994675	chr7:78988258-78988259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375421601	chr7:78988340-78988341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556457462	chr7:78988402-78988403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
Williams-beuren syndrome	16826523	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
Autism	20858243	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:377 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78982000-78992000	Weak transcription	NHLF	lung
2	chr7:78992000-78992400	Enhancers	Liver	Liver
3	chr7:78992000-78992600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:78992400-78993400	Weak transcription	Liver	Liver
5	chr7:78993400-78993600	Enhancers	Liver	Liver
6	chr7:78993400-78993800	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr7:79001600-79002000	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr7:79002000-79005800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr7:79004400-79004600	Enhancers	Brain Substantia Nigra	brain
10	chr7:79005800-79006600	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr7:79005800-79007000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:79005800-79007200	Enhancers	Ovary	ovary
13	chr7:79006000-79007000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:79006400-79006600	Weak transcription	Brain Substantia Nigra	brain
15	chr7:79006400-79006800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:79006600-79006800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:79006600-79007200	Enhancers	Brain Substantia Nigra	brain
18	chr7:79006600-79007200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr7:79007200-79007800	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr7:79007200-79015800	Weak transcription	Brain Substantia Nigra	brain
21	chr7:79009600-79010000	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr7:79009600-79010000	Enhancers	HSMMtube	muscle
23	chr7:79010000-79011200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr7:79011200-79011400	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr7:79011200-79011800	Enhancers	Fetal Brain Male	brain
26	chr7:79013400-79016000	Weak transcription	NHLF	lung
27	chr7:79015400-79015600	Weak transcription	A549	lung
28	chr7:79015600-79015800	Enhancers	A549	lung
29	chr7:79015600-79017600	Enhancers	HUVEC	blood vessel
30	chr7:79015800-79016000	Enhancers	Brain Substantia Nigra	brain
31	chr7:79015800-79017000	Flanking Active TSS	A549	lung
32	chr7:79016000-79016400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:79016000-79016400	Enhancers	Lung	lung
34	chr7:79016000-79016400	Enhancers	Hela-S3	cervix
35	chr7:79016000-79016400	Enhancers	NHLF	lung
36	chr7:79016000-79016600	Weak transcription	Brain Substantia Nigra	brain
37	chr7:79016000-79016800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr7:79016000-79016800	Enhancers	Osteobl	bone
39	chr7:79016000-79017800	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr7:79016200-79016800	Enhancers	Muscle Satellite Cultured Cells	--
41	chr7:79016200-79017000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:79016400-79017000	Enhancers	HepG2	liver
43	chr7:79016600-79016800	Enhancers	Brain Substantia Nigra	brain
44	chr7:79016800-79017400	Weak transcription	Brain Substantia Nigra	brain
45	chr7:79017000-79017600	Enhancers	A549	lung
46	chr7:79017400-79017600	Enhancers	Brain Substantia Nigra	brain
47	chr7:79017600-79030400	Weak transcription	Brain Substantia Nigra	brain
48	chr7:79023200-79025800	Weak transcription	Gastric	stomach
49	chr7:79023400-79023800	Enhancers	Brain Cingulate Gyrus	brain
50	chr7:79023800-79024000	Enhancers	Brain Hippocampus Middle	brain

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