Variant report

Variant	nsv881252
Chromosome Location	chr4:165733052-165788605
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	chr4:165772859..165774381-chr4:165791100..165793270,2	MCF-7	breast:
2	chr4:165786297..165787799-chr4:165799445..165800981,2	MCF-7	breast:

Extended variants
information (count: 2021 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:2021 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17486554	chr4:165733052-165733053	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564372865	chr4:165733054-165733055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188564387	chr4:165733099-165733100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368111290	chr4:165733131-165733132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552789533	chr4:165733154-165733155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574289948	chr4:165733163-165733164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541766794	chr4:165733178-165733179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563563610	chr4:165733182-165733183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575569981	chr4:165733221-165733222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142526205	chr4:165733222-165733223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150930964	chr4:165733223-165733224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528636001	chr4:165733243-165733244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547109788	chr4:165733247-165733248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569913031	chr4:165733257-165733258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs180921448	chr4:165733277-165733278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs56154116	chr4:165733306-165733307	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs144255039	chr4:165733307-165733308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539725260	chr4:165733343-165733344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34412748	chr4:165733376-165733377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12507308	chr4:165733382-165733383	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs570105302	chr4:165733386-165733387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534459271	chr4:165733391-165733392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185880018	chr4:165733429-165733430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574307623	chr4:165733437-165733438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28371073	chr4:165733463-165733464	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs147935544	chr4:165733572-165733573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551542964	chr4:165733588-165733589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549124357	chr4:165733594-165733595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79506920	chr4:165733598-165733599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11731397	chr4:165733647-165733648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141712178	chr4:165733698-165733699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147083583	chr4:165733710-165733711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145422177	chr4:165733713-165733714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72994287	chr4:165733738-165733739	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs576814599	chr4:165733752-165733753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562927697	chr4:165733755-165733756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190740797	chr4:165733760-165733761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115105012	chr4:165733821-165733822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368998261	chr4:165733825-165733826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs17045598	chr4:165733829-165733830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528042472	chr4:165733836-165733837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546310514	chr4:165733861-165733862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373932298	chr4:165733862-165733863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182084585	chr4:165733913-165733914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149217498	chr4:165733982-165733983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557158179	chr4:165734104-165734105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs17583703	chr4:165734133-165734134	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs539720931	chr4:165734145-165734146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs74590015	chr4:165734182-165734183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573291943	chr4:165734243-165734244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Glioblastoma multiforme	22286061	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16774939	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
intellectual deficit	22127048	CNVD
abnormal development	18461090	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:185 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:165722200-165736200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:165729000-165733600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr4:165729000-165735200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:165729400-165734400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr4:165729400-165734800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr4:165729400-165734800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr4:165729400-165735800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:165729400-165736000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr4:165729400-165736200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:165729400-165736600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr4:165729400-165736800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:165729400-165743800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr4:165729600-165734600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr4:165733600-165734200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr4:165734200-165736400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr4:165734400-165734800	Enhancers	Ovary	ovary
17	chr4:165734400-165735000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr4:165734600-165735600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr4:165734800-165735200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr4:165734800-165735200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr4:165734800-165736000	Weak transcription	Ovary	ovary
22	chr4:165735000-165736600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr4:165735200-165735400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:165735200-165736200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr4:165735200-165736600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr4:165735400-165736200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:165735600-165736000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr4:165735800-165737400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:165736000-165736200	Enhancers	Ovary	ovary
30	chr4:165736000-165737200	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr4:165736000-165737600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr4:165736200-165736400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr4:165736200-165736800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:165736200-165737000	Enhancers	H9 Cell Line	embryonic stem cell
35	chr4:165736200-165737200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr4:165736400-165736800	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr4:165736400-165737400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr4:165736600-165737200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr4:165736600-165737200	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr4:165736600-165737400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr4:165736800-165737000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr4:165736800-165737000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:165736800-165737400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr4:165737000-165737600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:165737000-165741200	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr4:165737000-165749000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr4:165737200-165740800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr4:165737200-165741000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr4:165737200-165741000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr4:165737200-165745800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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