Variant report

Variant	nsv968057
Chromosome Location	chr4:171921670-171936643
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:171928561..171931104-chr4:171934815..171936372,2	K562	blood:
2	chr4:171928561..171931104-chr4:171934815..171936372,2	K562	blood:
3	chr4:171929252..171929804-chr4:172107612..172108208,2	MCF-7	breast:

Extended variants
information (count: 282 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:282 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75222747	chr4:171928854-171928855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374026081	chr4:171928856-171928857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562199772	chr4:171928892-171928893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575901094	chr4:171928899-171928900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549725685	chr4:171928920-171928921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4692626	chr4:171928989-171928990	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs141700532	chr4:171929012-171929013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536252895	chr4:171929038-171929039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188735032	chr4:171929058-171929059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4692627	chr4:171929062-171929063	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs147064725	chr4:171929089-171929090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs180809028	chr4:171929171-171929172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185110894	chr4:171929173-171929174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190703369	chr4:171929250-171929251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148110966	chr4:171929256-171929257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529550319	chr4:171929311-171929312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550757987	chr4:171929359-171929360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570618620	chr4:171929387-171929388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181950833	chr4:171929423-171929424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186834540	chr4:171929455-171929456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141854783	chr4:171929482-171929483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs4692859	chr4:171929485-171929486	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs533695803	chr4:171929550-171929551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191506756	chr4:171929616-171929617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547558742	chr4:171929622-171929623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548113550	chr4:171929718-171929719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544394814	chr4:171929726-171929727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544439386	chr4:171929763-171929764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs149873843	chr4:171929768-171929769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs62346228	chr4:171929779-171929780	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs578130005	chr4:171929783-171929784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7340908	chr4:171929808-171929809	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs183768230	chr4:171929828-171929829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566092023	chr4:171929872-171929873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370150794	chr4:171929900-171929901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs35481247	chr4:171929986-171929987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150611288	chr4:171929997-171929998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541426701	chr4:171930128-171930129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533572962	chr4:171930130-171930131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561404238	chr4:171930131-171930132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10011354	chr4:171930132-171930133	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs367802054	chr4:171930142-171930143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187960701	chr4:171930246-171930247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112502959	chr4:171930247-171930248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533015977	chr4:171930260-171930261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546865239	chr4:171930281-171930282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112032071	chr4:171930310-171930311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546991403	chr4:171930383-171930384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546612351	chr4:171930398-171930399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs75266210	chr4:171930403-171930404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
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
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
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
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Developmental delay	22127048	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:171928800-171929000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:171928800-171929200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr4:171928800-171930200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr4:171929000-171929200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:171929000-171929200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:171929000-171929400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr4:171929000-171929400	Enhancers	H1 Cell Line	embryonic stem cell
8	chr4:171929000-171929400	Enhancers	H9 Cell Line	embryonic stem cell
9	chr4:171929000-171929400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr4:171929000-171929800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr4:171929000-171930000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr4:171929000-171930400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr4:171929000-171944400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:171929400-171932000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr4:171929400-171932000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr4:171932000-171932200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
17	chr4:171932000-171932600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
18	chr4:171935800-171937000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:171936200-171936800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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