Variant report

Variant	nsv527872
Chromosome Location	chr4:174873969-174908578
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:5)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:174898330..174900881-chr4:174901609..174904271,2	K562	blood:
2	chr4:174873733..174876256-chr4:174880533..174882266,2	K562	blood:
3	chr4:174873733..174876256-chr4:174880533..174882266,2	K562	blood:
4	chr4:174867285..174870306-chr4:174877689..174880210,3	K562	blood:
5	chr4:174898330..174900881-chr4:174901609..174904271,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBXO8-5	chr4:174903770-174903821	XLOC_004169
2	lnc-FBXO8-5	chr4:174907844-174907950	XLOC_004169
3	lnc-CEP44-7	chr4:174893096-174893269	l_2785_chr4:174856882-174860902_heart

No data

Extended variants
information (count: 134 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191856389	chr4:174879510-174879511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs6553737	chr4:174879513-174879514	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs529338222	chr4:174879520-174879521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6822868	chr4:174879541-174879542	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs111428949	chr4:174879548-174879549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6823064	chr4:174879624-174879625	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs35376226	chr4:174879642-174879643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530728810	chr4:174879693-174879694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377081049	chr4:174879721-174879722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183767839	chr4:174879769-174879770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186904310	chr4:174879820-174879821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs4547776	chr4:174879877-174879878	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs566210222	chr4:174879962-174879963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs13144496	chr4:174879989-174879990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533887105	chr4:174893212-174893213	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs189869175	chr4:174893213-174893214	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs567504915	chr4:174893266-174893267	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs546273438	chr4:174893621-174893622	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs185293471	chr4:174893625-174893626	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs545628725	chr4:174893642-174893643	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs375238745	chr4:174893647-174893648	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs556203825	chr4:174893648-174893649	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs4075552	chr4:174893662-174893663	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs76079854	chr4:174893666-174893667	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs547745716	chr4:174893672-174893673	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs113767081	chr4:174893691-174893692	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs188348192	chr4:174893753-174893754	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs111729886	chr4:174893761-174893762	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs144061862	chr4:174893781-174893782	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs538403501	chr4:174893813-174893814	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs558602921	chr4:174893815-174893816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs565567067	chr4:174893918-174893919	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs372111307	chr4:174893923-174893924	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs73008881	chr4:174893925-174893926	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs562389635	chr4:174893930-174893931	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs553668790	chr4:174893951-174893952	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs147329656	chr4:174893952-174893953	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs543658694	chr4:174893961-174893962	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs180815619	chr4:174893979-174893980	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs577357662	chr4:174893990-174893991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs116071956	chr4:174894017-174894018	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs374938659	chr4:174894031-174894032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs6818208	chr4:174894055-174894056	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs6818217	chr4:174894070-174894071	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs542262415	chr4:174894075-174894076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs4257638	chr4:174894076-174894077	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs530020686	chr4:174894099-174894100	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs368674692	chr4:174894109-174894110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs550047835	chr4:174894112-174894113	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs373283957	chr4:174894137-174894138	ZNF genes & repeats	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
Burkitt''s lymphoma	19759907	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:174879400-174879800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:174879400-174880000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:174879600-174880000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr4:174893600-174894400	ZNF genes & repeats	Aorta	Aorta
5	chr4:174894400-174894600	Weak transcription	Aorta	Aorta
6	chr4:174894600-174894800	Enhancers	Aorta	Aorta
7	chr4:174901200-174902000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:174908400-174908600	Enhancers	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links