Variant report

Variant	nsv1032480
Chromosome Location	chr7:79558011-79625086
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:193491807..193492652-chr7:79594775..79595639,2	MCF-7	breast:

Extended variants
information (count: 1257 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1257 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548697382	chr7:79558035-79558036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149704485	chr7:79558071-79558072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182185470	chr7:79558091-79558092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537427476	chr7:79558163-79558164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144438810	chr7:79558198-79558199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541214802	chr7:79558245-79558246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570846878	chr7:79558318-79558319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533187217	chr7:79558366-79558367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558825949	chr7:79558379-79558380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9649000	chr7:79558403-79558404	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs148392861	chr7:79558429-79558430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554224726	chr7:79558432-79558433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574158122	chr7:79558440-79558441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543134097	chr7:79558463-79558464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563088702	chr7:79558481-79558482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143991858	chr7:79558486-79558487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575378649	chr7:79558513-79558514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543665115	chr7:79558534-79558535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28794213	chr7:79558539-79558540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185188106	chr7:79558548-79558549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146509926	chr7:79558573-79558574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563442088	chr7:79558588-79558589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371937467	chr7:79558594-79558595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs117469671	chr7:79558611-79558612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190474251	chr7:79558617-79558618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544671586	chr7:79558653-79558654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200492975	chr7:79558663-79558664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536104380	chr7:79558708-79558709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113903025	chr7:79558709-79558710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182185972	chr7:79558720-79558721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551931943	chr7:79558721-79558722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185980816	chr7:79558752-79558753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539865733	chr7:79558773-79558774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141130865	chr7:79558833-79558834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565426297	chr7:79558846-79558847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79948727	chr7:79558898-79558899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534617318	chr7:79558926-79558927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554312957	chr7:79558942-79558943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567915459	chr7:79558944-79558945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536704447	chr7:79559003-79559004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143361044	chr7:79559022-79559023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368406380	chr7:79559101-79559102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189836156	chr7:79559130-79559131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146734908	chr7:79559132-79559133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553373726	chr7:79559149-79559150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573544302	chr7:79559256-79559257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs55653798	chr7:79559274-79559275	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs201730088	chr7:79559280-79559281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140988602	chr7:79559283-79559284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181147920	chr7:79559298-79559299	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	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79554800-79559600	Weak transcription	Osteobl	bone
2	chr7:79555200-79562800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr7:79558600-79566000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:79559600-79560000	Enhancers	Osteobl	bone
5	chr7:79560000-79561000	Weak transcription	Osteobl	bone
6	chr7:79561000-79561200	Enhancers	Osteobl	bone
7	chr7:79561200-79561600	Weak transcription	Osteobl	bone
8	chr7:79561600-79563200	Enhancers	Osteobl	bone
9	chr7:79562000-79563200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:79562200-79563200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:79562200-79563400	Enhancers	Dnd41	blood
12	chr7:79562400-79562800	Enhancers	Primary T cells from cord blood	blood
13	chr7:79562600-79563200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:79562800-79563200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr7:79579200-79579600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr7:79594200-79594400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:79594400-79597400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:79597200-79597600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr7:79597200-79597800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:79597200-79598000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr7:79597200-79598400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr7:79597400-79597800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr7:79597400-79597800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:79597400-79597800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:79597400-79597800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:79597400-79598000	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr7:79597600-79598000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr7:79597600-79598400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:79597800-79598800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:79598800-79600600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:79599600-79600600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:79599600-79600800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:79600800-79601800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:79601800-79602200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:79604400-79604600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:79604600-79605400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:79605000-79605200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr7:79605200-79605400	Enhancers	Primary T cells from cord blood	blood
39	chr7:79605200-79605600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr7:79605200-79605600	Enhancers	Dnd41	blood
41	chr7:79605400-79605800	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr7:79605400-79606200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:79605600-79606000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr7:79605800-79606200	Active TSS	Primary T cells from cord blood	blood
45	chr7:79606200-79607400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:79607400-79610000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:79607400-79614200	Enhancers	NHLF	lung
48	chr7:79607600-79611800	Enhancers	Fetal Lung	lung
49	chr7:79607800-79608000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr7:79608000-79611400	Enhancers	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links