Variant report

Variant	nsv880813
Chromosome Location	chr4:172251593-172363179
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:172215180..172217206-chr4:172338805..172340584,2	K562	blood:
2	chr4:172358064..172360029-chr4:172362493..172364651,2	MCF-7	breast:
3	chr4:172358064..172360029-chr4:172362493..172364651,2	MCF-7	breast:
4	chr4:172251016..172251858-chr8:105627743..105628264,2	MCF-7	breast:
5	chr4:172212656..172215279-chr4:172273980..172275669,2	K562	blood:

Extended variants
information (count: 544 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:544 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531914315	chr4:172260821-172260822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551635256	chr4:172260822-172260823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113995692	chr4:172260938-172260939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530032392	chr4:172261016-172261017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs34220329	chr4:172261022-172261023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188851944	chr4:172261031-172261032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs199907169	chr4:172261071-172261072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566395067	chr4:172261082-172261083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535665696	chr4:172261089-172261090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549236107	chr4:172261092-172261093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2657540	chr4:172261121-172261122	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs538191354	chr4:172261122-172261123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs377020092	chr4:172261144-172261145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557758694	chr4:172261159-172261160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144736553	chr4:172261187-172261188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533894340	chr4:172261190-172261191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192529279	chr4:172261191-172261192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148521631	chr4:172261192-172261193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184913973	chr4:172261213-172261214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556365161	chr4:172261255-172261256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs75536366	chr4:172261265-172261266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369819932	chr4:172261268-172261269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565396285	chr4:172261269-172261270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186652178	chr4:172261290-172261291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564205475	chr4:172261310-172261311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2637791	chr4:172261339-172261340	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs560081920	chr4:172261375-172261376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371372534	chr4:172261397-172261398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529028907	chr4:172261447-172261448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142785906	chr4:172261490-172261491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569114911	chr4:172261541-172261542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2637792	chr4:172261553-172261554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550383254	chr4:172261558-172261559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10014122	chr4:172261589-172261590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571423765	chr4:172261591-172261592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534213233	chr4:172261605-172261606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs34944260	chr4:172261615-172261616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553913066	chr4:172261656-172261657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2646657	chr4:172261658-172261659	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs557524367	chr4:172261677-172261678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556227956	chr4:172261695-172261696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577333681	chr4:172261744-172261745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536738666	chr4:172261754-172261755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs72692775	chr4:172261766-172261767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550562539	chr4:172261784-172261785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559221618	chr4:172261788-172261789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572687152	chr4:172261857-172261858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191502151	chr4:172261865-172261866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560238096	chr4:172261881-172261882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114325043	chr4:172261915-172261916	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:172260800-172262200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:172261400-172261800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:172261400-172261800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:172263600-172263800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:172263600-172263800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:172263800-172264000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr4:172263800-172264200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr4:172263800-172264200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr4:172263800-172264200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:172263800-172264200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr4:172263800-172264200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:172263800-172264200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:172263800-172264400	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr4:172263800-172264400	Enhancers	Primary hematopoietic stem cells	blood
15	chr4:172264000-172264200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr4:172264200-172264400	Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr4:172264200-172264800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:172264200-172265200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:172269000-172269400	Enhancers	Adipose Nuclei	Adipose
20	chr4:172274200-172275400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:172296200-172296600	Enhancers	Fetal Brain Male	brain
22	chr4:172296600-172298400	Weak transcription	Fetal Brain Male	brain
23	chr4:172298400-172299000	Enhancers	Fetal Brain Male	brain
24	chr4:172311400-172312400	Enhancers	Fetal Lung	lung
25	chr4:172317800-172318200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr4:172321000-172321200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr4:172321200-172322000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr4:172322000-172322400	Enhancers	H1 Cell Line	embryonic stem cell
29	chr4:172322000-172322400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr4:172322000-172322400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr4:172322000-172322400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr4:172322400-172326400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr4:172326000-172326600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr4:172326400-172326600	Enhancers	H1 Cell Line	embryonic stem cell
35	chr4:172326600-172327400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr4:172327400-172327600	Enhancers	H1 Cell Line	embryonic stem cell

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