Variant report

Variant	nsv537187
Chromosome Location	chr4:94867639-95030074
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:14)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:94902454..94905004-chr4:94999275..95001827,2	K562	blood:
2	chr4:94983452..94985612-chr4:94998782..95000432,2	K562	blood:
3	chr4:94979077..94981724-chr4:94984973..94987094,2	K562	blood:
4	chr4:94984924..94988531-chr4:94994080..94995912,3	K562	blood:
5	chr4:94931645..94934547-chr4:94969547..94971822,2	K562	blood:
6	chr4:94984924..94987149-chr4:94994387..94995912,2	K562	blood:
7	chr4:94900894..94903042-chr4:94911254..94913971,2	K562	blood:
8	chr4:94902454..94905004-chr4:94999275..95001827,2	K562	blood:
9	chr4:94983452..94985612-chr4:94998782..95000432,2	K562	blood:
10	chr4:94931645..94934547-chr4:94969547..94971822,2	K562	blood:
11	chr4:94984924..94988531-chr4:94994080..94995912,3	K562	blood:
12	chr4:94900894..94903042-chr4:94911254..94913971,2	K562	blood:
13	chr4:94979077..94981724-chr4:94984973..94987094,2	K562	blood:
14	chr4:94984924..94987149-chr4:94994387..94995912,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SMARCAD1-2	chr4:95010890-95010920	NONHSAT097440
2	lnc-SMARCAD1-2	chr4:95008196-95008609	NONHSAT097440
3	lnc-SMARCAD1-2	chr4:95007501-95007629	NONHSAT097440

No data

Extended variants
information (count: 2713 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:2713 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573946659	chr4:94867762-94867763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114739256	chr4:94867769-94867770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540034373	chr4:94867811-94867812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373598980	chr4:94867859-94867860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553742161	chr4:94867865-94867866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573488998	chr4:94867944-94867945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375659949	chr4:94867985-94867986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542110001	chr4:94867998-94867999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376975113	chr4:94868020-94868021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544916179	chr4:94868043-94868044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192158677	chr4:94868158-94868159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2578133	chr4:94868191-94868192	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs2618760	chr4:94868241-94868242	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs2618761	chr4:94868270-94868271	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs540031416	chr4:94868319-94868320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs59451398	chr4:94868353-94868354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544211383	chr4:94868354-94868355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529701476	chr4:94868355-94868356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs397732985	chr4:94868369-94868370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375122614	chr4:94868370-94868371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183479421	chr4:94868482-94868483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs80318997	chr4:94868590-94868591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548978193	chr4:94868609-94868610	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs187451592	chr4:94868616-94868617	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs35574338	chr4:94868682-94868683	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs530788652	chr4:94868708-94868709	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs551141995	chr4:94868737-94868738	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs115767249	chr4:94868747-94868748	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs528213122	chr4:94868750-94868751	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs372267906	chr4:94868765-94868766	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs553606010	chr4:94868791-94868792	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs12651552	chr4:94868792-94868793	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs184559996	chr4:94868807-94868808	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs74947878	chr4:94868829-94868830	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs539938370	chr4:94868833-94868834	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs192302116	chr4:94868837-94868838	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs11097397	chr4:94868852-94868853	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs151331185	chr4:94868880-94868881	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs575226463	chr4:94868881-94868882	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs537448248	chr4:94868901-94868902	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs182631694	chr4:94868912-94868913	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs538489726	chr4:94868923-94868924	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs144092355	chr4:94868942-94868943	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs577330330	chr4:94868961-94868962	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs144393303	chr4:94869052-94869053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188443897	chr4:94869068-94869069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192705989	chr4:94869085-94869086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1583660	chr4:94869114-94869115	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs372035916	chr4:94869119-94869120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114752025	chr4:94869242-94869243	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioma	20126413	CNVD
Cancer	20164919	CNVD
Sinonasal adenocarcinoma	21360264	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:94867000-94867800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr4:94867600-94867800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr4:94867600-94867800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:94867600-94869000	Enhancers	Brain Germinal Matrix	brain
5	chr4:94867800-94868000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr4:94867800-94869400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr4:94867800-94870600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:94868000-94868400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr4:94868000-94869000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:94868000-94869400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr4:94868400-94868600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr4:94868400-94868800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr4:94868400-94869400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:94868400-94869400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr4:94868600-94868800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr4:94868600-94869000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr4:94868800-94869000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr4:94869000-94869600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr4:94869000-94870200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr4:94869000-94870600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr4:94869400-94870400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:94869600-94870600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr4:94870400-94870600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:94870600-94870800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr4:94876400-94881800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr4:94880400-94882400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr4:94880600-94880800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:94880800-94882000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:94880800-94882400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr4:94881000-94882400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr4:94881000-94882400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr4:94881200-94882400	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr4:94881400-94882400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr4:94881800-94882000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr4:94882000-94882400	Enhancers	H9 Cell Line	embryonic stem cell
36	chr4:94882000-94882400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr4:94882000-94882400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:94898200-94924000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:94901600-94905800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:94902200-94903000	Enhancers	HUVEC	blood vessel
41	chr4:94902600-94902800	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr4:94902600-94902800	Enhancers	Spleen	Spleen
43	chr4:94902600-94903000	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr4:94903000-94904000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr4:94903000-94908000	Weak transcription	HUVEC	blood vessel
46	chr4:94903600-94904000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr4:94904000-94904600	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr4:94904200-94904600	Enhancers	GM12878-XiMat	blood
49	chr4:94905800-94906200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:94906200-94906400	Enhancers	GM12878-XiMat	blood

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