Variant report

Variant	nsv537189
Chromosome Location	chr4:95853357-95886153
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:95877704..95879988-chr4:95889895..95892478,2	K562	blood:
2	chr4:95848217..95850324-chr4:95853544..95856534,2	MCF-7	breast:
3	chr4:95840751..95844269-chr4:95852571..95856189,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UNC5C-3	chr4:95883856-95884268	l_2688_chr4:95883855-95898073_testes

Extended variants
information (count: 1111 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1111 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183368772	chr4:95853505-95853506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563125863	chr4:95853509-95853510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187623876	chr4:95853589-95853590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191904806	chr4:95853590-95853591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373101802	chr4:95853596-95853597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11945215	chr4:95853635-95853636	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs546887169	chr4:95853647-95853648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370006188	chr4:95853651-95853652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs117001026	chr4:95853694-95853695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561976379	chr4:95853725-95853726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183770997	chr4:95853750-95853751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116416686	chr4:95853753-95853754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569539327	chr4:95853789-95853790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73838612	chr4:95853792-95853793	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs558827933	chr4:95853814-95853815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571917628	chr4:95853841-95853842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534622528	chr4:95853851-95853852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554647695	chr4:95853859-95853860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574585010	chr4:95853870-95853871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79773115	chr4:95853877-95853878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563057641	chr4:95853942-95853943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568879334	chr4:95853963-95853964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576727127	chr4:95853987-95853988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs74587111	chr4:95853989-95853990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565577674	chr4:95854002-95854003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527645610	chr4:95854021-95854022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144863535	chr4:95854054-95854055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147535004	chr4:95854107-95854108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530112771	chr4:95854167-95854168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549894586	chr4:95854177-95854178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568411245	chr4:95854182-95854183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569475277	chr4:95854194-95854195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538847314	chr4:95854227-95854228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201248224	chr4:95854256-95854257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552138605	chr4:95854267-95854268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557031195	chr4:95854292-95854293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534659756	chr4:95854407-95854408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192989747	chr4:95854408-95854409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574522036	chr4:95854421-95854422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140218375	chr4:95854422-95854423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184001184	chr4:95854433-95854434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs367872427	chr4:95854440-95854441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576515202	chr4:95854468-95854469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566679105	chr4:95854500-95854501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1295449	chr4:95854522-95854523	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs558925084	chr4:95854545-95854546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186802686	chr4:95854556-95854557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201006928	chr4:95854588-95854589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191314842	chr4:95854594-95854595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs149978757	chr4:95854612-95854613	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:165 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95831000-95855000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:95849200-95854600	Weak transcription	NH-A	brain
3	chr4:95849200-95855200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:95849200-95856400	Weak transcription	Aorta	Aorta
5	chr4:95849200-95861600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:95849600-95855000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:95849600-95856400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:95849800-95855000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:95850200-95855000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:95850400-95855600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:95850800-95861000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr4:95851200-95853400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:95852000-95854600	Enhancers	A549	lung
14	chr4:95852400-95853600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:95852800-95853600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr4:95853200-95853400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr4:95853200-95853600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr4:95853200-95860800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr4:95853400-95855000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:95853400-95858200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr4:95853600-95857800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:95853800-95854400	Weak transcription	NHEK	skin
23	chr4:95854000-95854400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:95854400-95854800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:95854600-95855000	Enhancers	NH-A	brain
26	chr4:95854600-95855400	Flanking Active TSS	A549	lung
27	chr4:95854600-95856800	Enhancers	NHEK	skin
28	chr4:95854800-95855000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr4:95854800-95855400	Enhancers	Osteobl	bone
30	chr4:95854800-95856400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:95854800-95856800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:95855000-95855200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr4:95855000-95855600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:95855000-95855800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr4:95855000-95855800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:95855000-95856000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:95855000-95856000	Enhancers	HUVEC	blood vessel
38	chr4:95855000-95856000	Flanking Active TSS	NH-A	brain
39	chr4:95855000-95856200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr4:95855000-95856400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:95855000-95856800	Enhancers	HMEC	breast
42	chr4:95855200-95855600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr4:95855200-95856000	Enhancers	Placenta Amnion	Placenta Amnion
44	chr4:95855400-95855800	Flanking Active TSS	Osteobl	bone
45	chr4:95855400-95856400	Active TSS	A549	lung
46	chr4:95855400-95857000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:95855600-95856600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr4:95855600-95856800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:95855600-95858000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:95855800-95856200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links