Variant report

Variant	nsv596055
Chromosome Location	chr4:167082557-167120941
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:167086659..167087619-chr4:167173764..167174746,5	MCF-7	breast:
2	chr4:167086761..167087587-chr4:167515275..167516081,4	MCF-7	breast:
3	chr4:167090069..167090971-chr4:167515205..167515895,2	MCF-7	breast:
4	chr4:167086669..167087587-chr4:167173432..167174252,3	MCF-7	breast:

Extended variants
information (count: 386 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:386 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6834643	chr4:167086802-167086803	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189574258	chr4:167086821-167086822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563923141	chr4:167086831-167086832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575482360	chr4:167086847-167086848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546080005	chr4:167086851-167086852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181271793	chr4:167086875-167086876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78203194	chr4:167086879-167086880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185633429	chr4:167086919-167086920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561957204	chr4:167087000-167087001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574066360	chr4:167087016-167087017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147727443	chr4:167087026-167087027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190342091	chr4:167087027-167087028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530763593	chr4:167087075-167087076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531354897	chr4:167087078-167087079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551447985	chr4:167087084-167087085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182957376	chr4:167087086-167087087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186121846	chr4:167087151-167087152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541423899	chr4:167087164-167087165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564325526	chr4:167087175-167087176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140907354	chr4:167087199-167087200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2874824	chr4:167087220-167087221	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs190825480	chr4:167087223-167087224	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535534109	chr4:167087229-167087230	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550302927	chr4:167087244-167087245	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568621627	chr4:167087252-167087253	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527374356	chr4:167087273-167087274	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184160861	chr4:167087276-167087277	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528336054	chr4:167087336-167087337	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1497940	chr4:167087345-167087346	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs534260412	chr4:167087368-167087369	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10857377	chr4:167087398-167087399	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs73861153	chr4:167092432-167092433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77511107	chr4:167092440-167092441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142404724	chr4:167092468-167092469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573266677	chr4:167092487-167092488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10018884	chr4:167092502-167092503	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs150866348	chr4:167092569-167092570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529877809	chr4:167092613-167092614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548409758	chr4:167092622-167092623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139417677	chr4:167092650-167092651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150054227	chr4:167092654-167092655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552133408	chr4:167092676-167092677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561391861	chr4:167092732-167092733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570378630	chr4:167092781-167092782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185775671	chr4:167092821-167092822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546417937	chr4:167092825-167092826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369903564	chr4:167092903-167092904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374627997	chr4:167092982-167092983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs80102065	chr4:167093007-167093008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6817394	chr4:167093049-167093050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:73)

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
Colorectal cancer	16774939	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
intellectual deficit	22127048	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:167086800-167087000	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr4:167087000-167087200	Enhancers	Osteobl	bone
3	chr4:167087200-167087400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:167087200-167087400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:167092400-167095600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:167095600-167096800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:167096000-167097000	Enhancers	HUVEC	blood vessel
8	chr4:167102000-167102800	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr4:167116600-167116800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:167116800-167118200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:167118200-167119200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:167118600-167119000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:167118800-167120800	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr4:167119000-167120800	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr4:167119000-167121000	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr4:167119000-167121200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr4:167119200-167119400	Enhancers	Placenta	Placenta
18	chr4:167119200-167120600	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr4:167119400-167120000	Flanking Active TSS	Placenta	Placenta
20	chr4:167119400-167120000	Active TSS	HSMM	muscle
21	chr4:167120000-167120400	Enhancers	Placenta	Placenta
22	chr4:167120800-167121200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr4:167120800-167121200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links