Variant report

Variant	nsv917970
Chromosome Location	chr7:146451346-146558741
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:146465957..146468048-chr7:146468672..146471163,2	K562	blood:
2	chr7:146500988..146503359-chr7:146527735..146530660,2	K562	blood:
3	chr7:146531380..146533231-chr7:146533268..146535989,2	K562	blood:
4	chr7:146531380..146533231-chr7:146533268..146535989,2	K562	blood:
5	chr7:146486735..146488259-chr7:146492496..146494438,2	K562	blood:
6	chr11:86510283..86512929-chr7:146532947..146535829,2	MCF-7	breast:
7	chr7:146498401..146500562-chr7:146505202..146506866,2	K562	blood:
8	chr7:146537182..146538796-chr7:146543002..146544884,2	K562	blood:
9	chr7:146465957..146468048-chr7:146468672..146471163,2	K562	blood:
10	chr7:146486735..146488259-chr7:146492496..146494438,2	K562	blood:
11	chr7:146500988..146503359-chr7:146527735..146530660,2	K562	blood:
12	chr7:146537182..146538796-chr7:146543002..146544884,2	K562	blood:
13	chr7:146498401..146500562-chr7:146505202..146506866,2	K562	blood:
14	chr7:146479043..146481876-chr7:146483638..146485825,2	K562	blood:
15	chr7:146479043..146481876-chr7:146483638..146485825,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000150687	chromatin interactions

Extended variants
information (count: 1857 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:1857 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553583074	chr7:146461040-146461041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10279030	chr7:146461115-146461116	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs116720629	chr7:146461123-146461124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10230326	chr7:146461144-146461145	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs181480624	chr7:146461153-146461154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs137943460	chr7:146461233-146461234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564900989	chr7:146461247-146461248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142425314	chr7:146461249-146461250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560535375	chr7:146461255-146461256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375587123	chr7:146461270-146461271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551007596	chr7:146461272-146461273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143874673	chr7:146461327-146461328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs71530758	chr7:146461339-146461340	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs547199759	chr7:146461424-146461425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186128296	chr7:146461435-146461436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567198376	chr7:146461436-146461437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35935753	chr7:146461491-146461492	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs532123086	chr7:146461519-146461520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs61389148	chr7:146461568-146461569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs398095447	chr7:146461578-146461579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551408485	chr7:146461620-146461621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79980362	chr7:146461635-146461636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs79595156	chr7:146461674-146461675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557061805	chr7:146461754-146461755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73740853	chr7:146461764-146461765	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs369368263	chr7:146461779-146461780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536073208	chr7:146461841-146461842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs111340740	chr7:146461871-146461872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564235760	chr7:146461922-146461923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572818038	chr7:146461967-146461968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544863777	chr7:146461974-146461975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76184692	chr7:146462004-146462005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141145305	chr7:146462098-146462099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544270943	chr7:146462123-146462124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs79945706	chr7:146462128-146462129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190105808	chr7:146462134-146462135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540850972	chr7:146462182-146462183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548941568	chr7:146462191-146462192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200374640	chr7:146462224-146462225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560631925	chr7:146462269-146462270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532862070	chr7:146462292-146462293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182749914	chr7:146462297-146462298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185257709	chr7:146462304-146462305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs117250287	chr7:146462325-146462326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113607890	chr7:146462346-146462347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369222883	chr7:146462348-146462349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567379105	chr7:146462356-146462357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150810169	chr7:146462409-146462410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552758981	chr7:146462426-146462427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372508040	chr7:146462427-146462428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Splenic marginal zone lymphoma	21957467	CNVD
Glioblastoma multiforme	18628472	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	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatitis	21956041	CNVD
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20808228	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Neuropsychiatric disorder	21827697	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Autism	20964600	CNVD
Epilepsy	17646849	CNVD
Mental retardation	19896112	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146461000-146461200	Enhancers	Fetal Brain Male	brain
2	chr7:146461000-146462200	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr7:146461400-146462600	Weak transcription	Fetal Brain Male	brain
4	chr7:146462600-146463000	Enhancers	Fetal Brain Male	brain
5	chr7:146463000-146465400	Weak transcription	Fetal Brain Male	brain
6	chr7:146465400-146465600	Enhancers	Fetal Brain Female	brain
7	chr7:146465400-146465800	Enhancers	Pancreas	Pancrea
8	chr7:146465400-146466200	Enhancers	Ovary	ovary
9	chr7:146465400-146467000	Enhancers	Fetal Brain Male	brain
10	chr7:146466200-146466400	Enhancers	Fetal Brain Female	brain
11	chr7:146469200-146469400	Enhancers	Primary hematopoietic stem cells	blood
12	chr7:146469200-146470400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:146469600-146470400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:146470000-146470200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr7:146470000-146470200	Enhancers	Primary hematopoietic stem cells	blood
16	chr7:146470200-146471200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr7:146470800-146471400	Enhancers	Fetal Heart	heart
18	chr7:146471200-146471600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr7:146478400-146479200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:146478600-146478800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:146478600-146479000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:146478600-146479400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr7:146478800-146489400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:146479000-146479200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr7:146479200-146486000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr7:146483000-146484000	Enhancers	Fetal Heart	heart
27	chr7:146484200-146484600	Active TSS	Primary T cells from cord blood	blood
28	chr7:146484400-146484800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:146485200-146485400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:146485800-146486000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr7:146486000-146487400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr7:146486000-146490000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr7:146486400-146487200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr7:146486400-146487800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr7:146486800-146487000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr7:146487000-146488200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr7:146487200-146488400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr7:146487400-146487800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr7:146487400-146488400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr7:146487800-146488200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr7:146487800-146488200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr7:146488200-146488400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr7:146488200-146488600	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr7:146488200-146490000	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr7:146488400-146488600	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr7:146488400-146489200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr7:146488400-146489800	Enhancers	H9 Cell Line	embryonic stem cell
48	chr7:146488400-146489800	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr7:146488400-146490000	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr7:146488600-146488800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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