Variant report

Variant	nsv1018930
Chromosome Location	chr4:172836503-172865509
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:172844152..172846953-chr4:172848968..172851507,2	K562	blood:
2	chr4:172844152..172846953-chr4:172848968..172851507,2	K562	blood:
3	chr4:172853787..172856208-chr4:172863065..172865371,2	K562	blood:
4	chr4:172853787..172856208-chr4:172863065..172865371,2	K562	blood:
5	chr4:172790840..172792742-chr4:172835981..172838118,2	K562	blood:

Extended variants
information (count: 847 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:847 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78284080	chr4:172838625-172838626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs6849872	chr4:172838762-172838763	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs369348501	chr4:172838824-172838825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187992884	chr4:172838834-172838835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143095379	chr4:172838889-172838890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs59670286	chr4:172838895-172838896	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs545539990	chr4:172838905-172838906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558945913	chr4:172838920-172838921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs57114629	chr4:172838962-172838963	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs532823990	chr4:172838995-172838996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549740154	chr4:172839011-172839012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541348967	chr4:172839060-172839061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs193023246	chr4:172839064-172839065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569696080	chr4:172839100-172839101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185217810	chr4:172839105-172839106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75261578	chr4:172839106-172839107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544029598	chr4:172839120-172839121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6832294	chr4:172839141-172839142	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs531278098	chr4:172839149-172839150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370251365	chr4:172839154-172839155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189815728	chr4:172839213-172839214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570871969	chr4:172839269-172839270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527325672	chr4:172839271-172839272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547374008	chr4:172839295-172839296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375589817	chr4:172839326-172839327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs6851131	chr4:172839330-172839331	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs140315353	chr4:172839391-172839392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs58087716	chr4:172839420-172839421	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs569866566	chr4:172839438-172839439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375629442	chr4:172839475-172839476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115925104	chr4:172839529-172839530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559134440	chr4:172839532-172839533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200833395	chr4:172839571-172839572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114464647	chr4:172839642-172839643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75426394	chr4:172839663-172839664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192794593	chr4:172839680-172839681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370992252	chr4:172839695-172839696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183546005	chr4:172839700-172839701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540226881	chr4:172839712-172839713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560150617	chr4:172839722-172839723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563494811	chr4:172839737-172839738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs578184268	chr4:172839775-172839776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114220124	chr4:172839779-172839780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188278524	chr4:172839830-172839831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564686841	chr4:172839869-172839870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527272736	chr4:172839877-172839878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs55834722	chr4:172839946-172839947	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs74956945	chr4:172839977-172839978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs180887407	chr4:172840033-172840034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10866351	chr4:172840057-172840058	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:172838600-172839400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr4:172838800-172839600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr4:172839000-172839200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr4:172839000-172839400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr4:172839200-172844400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr4:172839400-172845800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:172840400-172840800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:172844400-172846400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr4:172844600-172844800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:172845000-172846000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:172845600-172846400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr4:172845600-172846600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr4:172845800-172846400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:172845800-172846400	Enhancers	H9 Cell Line	embryonic stem cell
15	chr4:172845800-172846600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr4:172845800-172848000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr4:172845800-172848400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr4:172846000-172846200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:172846000-172846400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr4:172846000-172846800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr4:172846000-172846800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:172846200-172846600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr4:172846200-172846800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr4:172846200-172850600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr4:172846400-172846600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:172846400-172847400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr4:172846400-172849600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:172846600-172847200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:172846600-172847600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr4:172846600-172847600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr4:172846800-172847200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr4:172846800-172847400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr4:172847200-172848200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr4:172847200-172849000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:172847400-172847600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr4:172847400-172848200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr4:172847600-172847800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr4:172847600-172847800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr4:172848200-172851400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr4:172850600-172851000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr4:172850600-172851600	ZNF genes & repeats	Spleen	Spleen
42	chr4:172851000-172851400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr4:172851400-172851600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr4:172851600-172859200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr4:172851800-172852000	Weak transcription	Spleen	Spleen
46	chr4:172855000-172858000	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr4:172858000-172858200	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr4:172858600-172860000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr4:172859000-172859400	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr4:172859000-172859800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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