Variant report

Variant	nsv880800
Chromosome Location	chr4:175476462-175513812
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:175478907..175480414-chr4:175480826..175482541,2	K562	blood:
2	chr4:175505435..175507439-chr4:175508073..175510224,2	K562	blood:
3	chr4:175478907..175480414-chr4:175480826..175482541,2	K562	blood:
4	chr4:175478843..175480644-chr4:175480681..175483174,2	MCF-7	breast:
5	chr4:175505435..175507439-chr4:175508073..175510224,2	K562	blood:
6	chr4:175512708..175515065-chr4:175517080..175519452,2	K562	blood:
7	chr4:175478843..175480644-chr4:175480681..175483174,2	MCF-7	breast:
8	chr4:175513163..175515065-chr4:175517080..175519428,2	K562	blood:

No data

Extended variants
information (count: 1458 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1458 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6837393	chr4:175476462-175476463	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs117521365	chr4:175476485-175476486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112770542	chr4:175476487-175476488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188815571	chr4:175476593-175476594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6842619	chr4:175476640-175476641	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs200423667	chr4:175476652-175476653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35138844	chr4:175476676-175476677	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs552813121	chr4:175476723-175476724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192894642	chr4:175476732-175476733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139255970	chr4:175476757-175476758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527804690	chr4:175476764-175476765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6820915	chr4:175476800-175476801	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs575192677	chr4:175476832-175476833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544104268	chr4:175476852-175476853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185000970	chr4:175476887-175476888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576845437	chr4:175476992-175476993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10019035	chr4:175476996-175476997	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs559621173	chr4:175477026-175477027	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528674695	chr4:175477030-175477031	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530212266	chr4:175477031-175477032	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143284159	chr4:175477032-175477033	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147543350	chr4:175477058-175477059	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187923991	chr4:175477060-175477061	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs137890039	chr4:175477076-175477077	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10032848	chr4:175477101-175477102	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs539467156	chr4:175477126-175477127	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs56362241	chr4:175477132-175477133	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546659366	chr4:175477153-175477154	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566487094	chr4:175477206-175477207	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10019203	chr4:175477213-175477214	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs142811658	chr4:175477228-175477229	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532815066	chr4:175477239-175477240	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149468060	chr4:175477242-175477243	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191540860	chr4:175477285-175477286	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537716037	chr4:175477300-175477301	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559747188	chr4:175477329-175477330	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs35794707	chr4:175477338-175477339	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528740690	chr4:175477362-175477363	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551991067	chr4:175477510-175477511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576806220	chr4:175477541-175477542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545915298	chr4:175477548-175477549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9990719	chr4:175477569-175477570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs376656455	chr4:175477574-175477575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143949420	chr4:175477610-175477611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148625975	chr4:175477628-175477629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62332198	chr4:175477629-175477630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531003636	chr4:175477770-175477771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531148825	chr4:175477848-175477849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9998916	chr4:175477873-175477874	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs183700431	chr4:175477892-175477893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:226 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175466600-175484600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:175471600-175476600	Weak transcription	Stomach Mucosa	stomach
3	chr4:175473400-175476800	Weak transcription	Fetal Intestine Small	intestine
4	chr4:175473400-175478400	Weak transcription	Placenta	Placenta
5	chr4:175475600-175477000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr4:175475800-175479000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:175475800-175480800	Weak transcription	Fetal Stomach	stomach
8	chr4:175476000-175480800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:175476000-175481000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:175476600-175477200	Enhancers	Liver	Liver
11	chr4:175476600-175477600	Enhancers	Stomach Mucosa	stomach
12	chr4:175476800-175477400	Enhancers	Fetal Intestine Small	intestine
13	chr4:175477000-175477400	Active TSS	Aorta	Aorta
14	chr4:175477000-175477400	Enhancers	Duodenum Mucosa	Duodenum
15	chr4:175477000-175477400	Enhancers	Fetal Intestine Large	intestine
16	chr4:175477400-175482800	Weak transcription	Fetal Intestine Small	intestine
17	chr4:175477600-175478000	Weak transcription	Stomach Mucosa	stomach
18	chr4:175478000-175479600	Enhancers	Stomach Mucosa	stomach
19	chr4:175478400-175478600	Enhancers	Placenta	Placenta
20	chr4:175478600-175480200	Weak transcription	Placenta	Placenta
21	chr4:175478800-175479800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr4:175479000-175479400	Enhancers	Primary hematopoietic stem cells	blood
23	chr4:175479000-175479600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:175479400-175479600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr4:175479400-175479800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr4:175479600-175479800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr4:175479600-175479800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr4:175479600-175480800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr4:175479600-175480800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:175479600-175481200	Weak transcription	Stomach Mucosa	stomach
31	chr4:175479800-175480800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:175479800-175480800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr4:175479800-175482600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr4:175479800-175484600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr4:175480200-175481600	Enhancers	Placenta	Placenta
36	chr4:175480800-175481000	Enhancers	H9 Cell Line	embryonic stem cell
37	chr4:175480800-175481600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr4:175480800-175481600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr4:175480800-175481600	Enhancers	Fetal Stomach	stomach
40	chr4:175480800-175482200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:175480800-175482800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr4:175480800-175483000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr4:175480800-175483000	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr4:175480800-175483400	Enhancers	H1 Cell Line	embryonic stem cell
45	chr4:175480800-175483800	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr4:175480800-175485000	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr4:175480800-175485400	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr4:175481000-175481400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr4:175481000-175481600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr4:175481000-175482200	Weak transcription	H9 Cell Line	embryonic stem cell

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