Variant report

Variant	nsv1019118
Chromosome Location	chr7:145483353-145639795
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:71)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:71 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:145638170..145640134-chr7:145641870..145644599,2	K562	blood:
2	chr7:145488061..145490636-chr7:145491307..145495492,3	K562	blood:
3	chr7:145544508..145547713-chr7:145548814..145551255,3	K562	blood:
4	chr7:145570273..145573206-chr7:145582083..145584051,2	K562	blood:
5	chr7:145603747..145606720-chr7:145610565..145612229,2	K562	blood:
6	chr7:145544188..145547713-chr7:145548640..145551255,3	K562	blood:
7	chr7:145528361..145531819-chr7:145535311..145538302,3	K562	blood:
8	chr7:145498670..145501761-chr7:145504907..145507918,3	K562	blood:
9	chr7:145496261..145498317-chr7:145500912..145502935,2	K562	blood:
10	chr7:145499268..145500796-chr7:145500851..145503015,2	K562	blood:
11	chr7:145623731..145626417-chr7:145628652..145631149,2	K562	blood:
12	chr7:145493230..145496717-chr7:145496905..145498900,3	K562	blood:
13	chr7:145521688..145524428-chr7:145525978..145528243,2	K562	blood:
14	chr7:145490921..145492885-chr7:145501378..145504321,2	K562	blood:
15	chr7:145620799..145623095-chr7:145631387..145633696,2	K562	blood:
16	chr7:145490921..145492885-chr7:145501378..145504321,2	K562	blood:
17	chr7:145476367..145479131-chr7:145497414..145500253,2	K562	blood:
18	chr7:145620799..145622783-chr7:145631883..145633696,2	K562	blood:
19	chr7:145563311..145566227-chr7:145589236..145592014,2	K562	blood:
20	chr7:145620799..145623095-chr7:145631387..145633696,2	K562	blood:
21	chr7:145483440..145485132-chr7:145526047..145528173,2	K562	blood:
22	chr7:145480955..145483168-chr7:145505213..145507964,2	K562	blood:
23	chr7:145502354..145504603-chr7:145510015..145512590,2	K562	blood:
24	chr7:145587303..145590118-chr7:145598961..145602671,3	K562	blood:
25	chr7:145499268..145500796-chr7:145500851..145503015,2	K562	blood:
26	chr7:145488061..145490636-chr7:145491307..145495492,3	K562	blood:
27	chr7:145500763..145502459-chr7:145504004..145505820,2	K562	blood:
28	chr7:145481226..145483746-chr7:145496053..145497822,2	K562	blood:
29	chr7:145587469..145590118-chr7:145600376..145602671,2	K562	blood:
30	chr7:145528361..145531819-chr7:145535311..145538302,3	K562	blood:
31	chr7:145502354..145504603-chr7:145510015..145512590,2	K562	blood:
32	chr7:145570273..145573206-chr7:145582083..145584051,2	K562	blood:
33	chr7:145526235..145528580-chr7:145532723..145534447,2	K562	blood:
34	chr7:145496261..145498317-chr7:145500912..145502935,2	K562	blood:
35	chr7:145549363..145550991-chr7:145552735..145554413,2	K562	blood:
36	chr7:145581729..145584075-chr7:145587709..145589979,2	K562	blood:
37	chr7:145480673..145485123-chr7:145486120..145492126,9	K562	blood:
38	chr7:145581729..145584075-chr7:145587709..145589979,2	K562	blood:
39	chr7:145587303..145590118-chr7:145598961..145602671,3	K562	blood:
40	chr7:145350267..145350911-chr7:145545526..145546232,2	MCF-7	breast:
41	chr7:145587469..145590118-chr7:145600376..145602671,2	K562	blood:
42	chr7:145614214..145615977-chr7:145619608..145621998,3	K562	blood:
43	chr7:145521688..145524428-chr7:145525978..145528243,2	K562	blood:
44	chr7:145502448..145505439-chr7:145519907..145522697,2	K562	blood:
45	chr7:145633292..145636880-chr7:145639535..145641924,3	K562	blood:
46	chr7:145500763..145502459-chr7:145504004..145505820,2	K562	blood:
47	chr7:145496380..145498149-chr7:145531231..145534208,2	K562	blood:
48	chr7:145493230..145496717-chr7:145496905..145498900,3	K562	blood:
49	chr7:145623731..145626417-chr7:145628652..145631149,2	K562	blood:
50	chr7:145633292..145636880-chr7:145639535..145641924,3	K562	blood:

No data

Extended variants
information (count: 5869 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:5869 , 50 per page) page: 1 2 3 4 5 6 7 ... 118

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543229968	chr7:145483353-145483354	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs73467313	chr7:145483379-145483380	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs545245554	chr7:145483380-145483381	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs371200696	chr7:145483431-145483432	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs557509719	chr7:145483438-145483439	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs115161759	chr7:145483478-145483479	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs73467316	chr7:145483488-145483489	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs139986493	chr7:145483509-145483510	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs80223216	chr7:145483524-145483525	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs144968458	chr7:145483537-145483538	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs564806705	chr7:145483546-145483547	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs78161360	chr7:145483551-145483552	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs550633090	chr7:145483554-145483555	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs74380794	chr7:145483562-145483563	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs114660648	chr7:145483597-145483598	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs113782575	chr7:145483630-145483631	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs73467317	chr7:145483662-145483663	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs566580892	chr7:145483673-145483674	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs533736217	chr7:145483675-145483676	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs561378474	chr7:145483686-145483687	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs558607865	chr7:145483790-145483791	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs147960282	chr7:145483798-145483799	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs116011360	chr7:145483807-145483808	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs557411209	chr7:145483831-145483832	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs114876559	chr7:145483857-145483858	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs6976897	chr7:145483871-145483872	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs113571194	chr7:145483880-145483881	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs190863131	chr7:145483925-145483926	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs543798219	chr7:145483964-145483965	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs540353897	chr7:145483970-145483971	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs75719233	chr7:145484000-145484001	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs564932347	chr7:145484026-145484027	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs532441001	chr7:145484051-145484052	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs532396991	chr7:145484124-145484125	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs544490872	chr7:145484180-145484181	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs73736593	chr7:145484209-145484210	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs73467318	chr7:145484210-145484211	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs548420215	chr7:145484213-145484214	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs73467320	chr7:145484268-145484269	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs545898258	chr7:145484284-145484285	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs73467322	chr7:145484335-145484336	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs552335917	chr7:145484343-145484344	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs570420163	chr7:145484389-145484390	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs116619588	chr7:145484390-145484391	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs112827174	chr7:145484439-145484440	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs547468706	chr7:145484522-145484523	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs180904700	chr7:145484589-145484590	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs536417638	chr7:145484613-145484614	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs75917425	chr7:145484667-145484668	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs147789023	chr7:145484672-145484673	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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	23813976	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Neuropsychiatric disorder	21827697	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:145481600-145484800	Active TSS	K562	blood
2	chr7:145484800-145485800	Transcr. at gene 5' and 3'	K562	blood
3	chr7:145485800-145487000	Active TSS	K562	blood
4	chr7:145487000-145487200	Flanking Active TSS	K562	blood
5	chr7:145487200-145487800	Enhancers	K562	blood
6	chr7:145487800-145488000	Flanking Active TSS	K562	blood
7	chr7:145488000-145489200	Genic enhancers	K562	blood
8	chr7:145489200-145490800	Weak transcription	K562	blood
9	chr7:145490800-145493000	Genic enhancers	K562	blood
10	chr7:145493000-145494400	Weak transcription	K562	blood
11	chr7:145494400-145495400	Genic enhancers	K562	blood
12	chr7:145495400-145511400	Weak transcription	K562	blood
13	chr7:145514200-145514600	ZNF genes & repeats	K562	blood
14	chr7:145514600-145539800	Weak transcription	K562	blood
15	chr7:145539800-145540400	Strong transcription	K562	blood
16	chr7:145540000-145540200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:145540200-145540400	Enhancers	H9 Cell Line	embryonic stem cell
18	chr7:145540400-145542200	Weak transcription	K562	blood
19	chr7:145542200-145542800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr7:145542200-145542800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr7:145542200-145542800	Strong transcription	K562	blood
22	chr7:145542400-145542800	Enhancers	H9 Cell Line	embryonic stem cell
23	chr7:145542400-145542800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:145542400-145542800	Active TSS	Primary B cells from peripheral blood	blood
25	chr7:145542400-145543000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr7:145542400-145543200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr7:145542600-145543000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr7:145542800-145544200	Weak transcription	K562	blood
29	chr7:145544200-145554600	Strong transcription	K562	blood
30	chr7:145554600-145556200	Weak transcription	K562	blood
31	chr7:145556200-145559000	Strong transcription	K562	blood
32	chr7:145559000-145565200	Weak transcription	K562	blood
33	chr7:145559200-145559800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr7:145565200-145566000	Strong transcription	K562	blood
35	chr7:145565800-145566200	ZNF genes & repeats	Colonic Mucosa	Colon
36	chr7:145566000-145566400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:145566000-145583800	Weak transcription	K562	blood
38	chr7:145583800-145584000	ZNF genes & repeats	K562	blood
39	chr7:145584000-145590400	Weak transcription	K562	blood
40	chr7:145590400-145590800	Enhancers	K562	blood
41	chr7:145590800-145591200	Flanking Active TSS	K562	blood
42	chr7:145591200-145591600	Enhancers	K562	blood
43	chr7:145591600-145597600	Weak transcription	K562	blood
44	chr7:145597600-145598000	ZNF genes & repeats	K562	blood
45	chr7:145598000-145614000	Weak transcription	K562	blood
46	chr7:145599200-145600400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr7:145599400-145600400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr7:145599800-145600400	Enhancers	H1 Cell Line	embryonic stem cell
49	chr7:145600000-145600400	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr7:145600200-145600400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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