Variant report

Variant	nsv520625
Chromosome Location	chr4:79002655-79071788
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:79068664..79070445-chr4:79070622..79072179,2	MCF-7	breast:
2	chr4:78980938..78982697-chr4:79002374..79004588,2	MCF-7	breast:
3	chr4:79068664..79070445-chr4:79070622..79072179,2	MCF-7	breast:
4	chr4:79001875..79002684-chr8:136579848..136580618,2	MCF-7	breast:

Extended variants
information (count: 2841 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:2841 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4437284	chr4:79002655-79002656	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140305805	chr4:79002676-79002677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541801781	chr4:79002692-79002693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78953987	chr4:79002701-79002702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145214113	chr4:79002779-79002780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs137907903	chr4:79002853-79002854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570929847	chr4:79002890-79002891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532170030	chr4:79002907-79002908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573851899	chr4:79002921-79002922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78337198	chr4:79002966-79002967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569168648	chr4:79002968-79002969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542251190	chr4:79002996-79002997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192977579	chr4:79003018-79003019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185078824	chr4:79003034-79003035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145140457	chr4:79003035-79003036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190127441	chr4:79003053-79003054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553539107	chr4:79003063-79003064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs17002924	chr4:79003111-79003112	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs192933113	chr4:79003129-79003130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556368899	chr4:79003134-79003135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576312967	chr4:79003157-79003158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542084127	chr4:79003163-79003164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562068486	chr4:79003192-79003193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572238077	chr4:79003203-79003204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185500531	chr4:79003226-79003227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113311463	chr4:79003327-79003328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541427299	chr4:79003392-79003393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138956699	chr4:79003462-79003463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149395128	chr4:79003516-79003517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571905795	chr4:79003539-79003540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199712709	chr4:79003569-79003570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs36049189	chr4:79003634-79003635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569104596	chr4:79003665-79003666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189640251	chr4:79003686-79003687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539318832	chr4:79003858-79003859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568367146	chr4:79003903-79003904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533513019	chr4:79003910-79003911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371177526	chr4:79003947-79003948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs398083216	chr4:79003949-79003950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs180849003	chr4:79003967-79003968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144804799	chr4:79003979-79003980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564197993	chr4:79003983-79003984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148528635	chr4:79004023-79004024	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185454088	chr4:79004034-79004035	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188600305	chr4:79004053-79004054	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535658840	chr4:79004064-79004065	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181188067	chr4:79004072-79004073	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143940977	chr4:79004094-79004095	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147243807	chr4:79004137-79004138	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140673002	chr4:79004138-79004139	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:471 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78981200-79016600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:78988800-79003000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:78992200-79006800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:78995800-79015800	Weak transcription	HepG2	liver
5	chr4:78997000-79004000	Weak transcription	Fetal Heart	heart
6	chr4:78997200-79005800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr4:78997400-79011200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:78997600-79011000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr4:78998400-79002800	Weak transcription	Pancreas	Pancrea
10	chr4:78998400-79006600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:78999600-79002800	Weak transcription	Aorta	Aorta
12	chr4:79000800-79002800	Enhancers	H9 Cell Line	embryonic stem cell
13	chr4:79001400-79003000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:79001600-79014200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:79002000-79002800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr4:79002000-79003000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:79002200-79002800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr4:79002200-79003000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr4:79002200-79004000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:79002200-79013600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:79002400-79011600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr4:79002600-79002800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:79002800-79003000	Enhancers	Aorta	Aorta
24	chr4:79002800-79003000	Enhancers	Pancreas	Pancrea
25	chr4:79002800-79004800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr4:79002800-79013600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:79003000-79005000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:79003000-79013600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr4:79003000-79016800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:79004000-79005000	Enhancers	Fetal Heart	heart
31	chr4:79004000-79006800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:79004800-79005800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr4:79005000-79007000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:79005800-79006600	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr4:79005800-79012000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr4:79006600-79006800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
37	chr4:79006600-79011400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr4:79006800-79011000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr4:79006800-79011200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr4:79007000-79015800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:79011000-79012000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:79011000-79013800	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr4:79011000-79014200	Enhancers	H9 Cell Line	embryonic stem cell
44	chr4:79011200-79011800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr4:79011200-79013600	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr4:79011200-79013800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr4:79011400-79013600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr4:79011400-79016600	Weak transcription	Fetal Intestine Small	intestine
49	chr4:79011600-79011800	Enhancers	H1 Cell Line	embryonic stem cell
50	chr4:79011800-79013200	Weak transcription	H1 Cell Line	embryonic stem cell

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