Variant report

Variant	nsv819975
Chromosome Location	chr4:172844359-172847833
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	chr4:172844152..172846953-chr4:172848968..172851507,2	K562	blood:

Extended variants
information (count: 132 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558933770	chr4:172844360-172844361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs180851339	chr4:172844380-172844381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571551619	chr4:172844384-172844385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533861632	chr4:172844468-172844469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553906677	chr4:172844487-172844488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6553602	chr4:172844528-172844529	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs62326311	chr4:172844547-172844548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565298275	chr4:172844549-172844550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34368837	chr4:172844550-172844551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75769190	chr4:172844567-172844568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147507065	chr4:172844572-172844573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185503433	chr4:172844580-172844581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556738797	chr4:172844649-172844650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576481988	chr4:172844650-172844651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539054857	chr4:172844657-172844658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558694411	chr4:172844673-172844674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572670639	chr4:172844691-172844692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10009436	chr4:172844693-172844694	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs367903886	chr4:172844715-172844716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs33929033	chr4:172844730-172844731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561492702	chr4:172844743-172844744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535184832	chr4:172844751-172844752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542312032	chr4:172844764-172844765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192189304	chr4:172844778-172844779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531193626	chr4:172844779-172844780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551323509	chr4:172844830-172844831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116182260	chr4:172844861-172844862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115075765	chr4:172844864-172844865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368447325	chr4:172844874-172844875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184033142	chr4:172844900-172844901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567461471	chr4:172844915-172844916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563244976	chr4:172844938-172844939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112803590	chr4:172844985-172844986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs72985392	chr4:172845033-172845034	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs189104491	chr4:172845039-172845040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144399785	chr4:172845081-172845082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572356432	chr4:172845168-172845169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547273115	chr4:172845226-172845227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148601537	chr4:172845242-172845243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142063142	chr4:172845262-172845263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75808605	chr4:172845270-172845271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552667112	chr4:172845299-172845300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191458109	chr4:172845312-172845313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201101346	chr4:172845313-172845314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371649848	chr4:172845334-172845335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372803852	chr4:172845335-172845336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530587876	chr4:172845364-172845365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76009259	chr4:172845365-172845366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201789002	chr4:172845366-172845367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182893618	chr4:172845410-172845411	Enhancers 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
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
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
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:172839200-172844400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:172839400-172845800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr4:172844400-172846400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr4:172844600-172844800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:172845000-172846000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:172845600-172846400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr4:172845600-172846600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr4:172845800-172846400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:172845800-172846400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr4:172845800-172846600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr4:172845800-172848000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr4:172845800-172848400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr4:172846000-172846200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:172846000-172846400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:172846000-172846800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr4:172846000-172846800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:172846200-172846600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr4:172846200-172846800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr4:172846200-172850600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr4:172846400-172846600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:172846400-172847400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr4:172846400-172849600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:172846600-172847200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:172846600-172847600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr4:172846600-172847600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr4:172846800-172847200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr4:172846800-172847400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr4:172847200-172848200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr4:172847200-172849000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:172847400-172847600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr4:172847400-172848200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr4:172847600-172847800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr4:172847600-172847800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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