Variant report

Variant	nsv968004
Chromosome Location	chr4:93440631-93455675
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 611 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs968034	chr4:93440660-93440661	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs377028606	chr4:93440665-93440666	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs140257210	chr4:93440671-93440672	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs370150013	chr4:93440732-93440733	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs538824033	chr4:93440733-93440734	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs559218968	chr4:93440745-93440746	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs141787614	chr4:93440752-93440753	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs540380739	chr4:93440753-93440754	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs577188437	chr4:93440758-93440759	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs398107650	chr4:93440765-93440766	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs189590374	chr4:93440768-93440769	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs112443210	chr4:93440783-93440784	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs145241112	chr4:93440835-93440836	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs574738720	chr4:93440864-93440865	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs193057730	chr4:93440873-93440874	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs968035	chr4:93440881-93440882	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs373731329	chr4:93440912-93440913	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs146408663	chr4:93440989-93440990	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs113089192	chr4:93441009-93441010	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs185095078	chr4:93441021-93441022	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs571016801	chr4:93441034-93441035	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs567399508	chr4:93441036-93441037	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs535834481	chr4:93441051-93441052	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs189030711	chr4:93441086-93441087	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs570228396	chr4:93441096-93441097	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs141122980	chr4:93441132-93441133	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs181610724	chr4:93441147-93441148	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs572667433	chr4:93441238-93441239	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs9992334	chr4:93441298-93441299	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs554720393	chr4:93441348-93441349	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs574885030	chr4:93441389-93441390	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs543417476	chr4:93441420-93441421	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs563722519	chr4:93441427-93441428	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs201779774	chr4:93441468-93441469	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs113870350	chr4:93441488-93441489	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs35833244	chr4:93441526-93441527	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs398107651	chr4:93441535-93441536	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs577194345	chr4:93441654-93441655	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs79079531	chr4:93441657-93441658	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs148252309	chr4:93441686-93441687	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs564874335	chr4:93441695-93441696	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs185599280	chr4:93441713-93441714	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs111744940	chr4:93441739-93441740	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs539456572	chr4:93441766-93441767	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs529821205	chr4:93441789-93441790	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs549641320	chr4:93441794-93441795	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs558118338	chr4:93441807-93441808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189643735	chr4:93441862-93441863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201990229	chr4:93441874-93441875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534096685	chr4:93441901-93441902	Enhancers Weak transcription	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
Chronic lymphocytic leukemia	18922857	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
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	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
Cancer	20164920	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Williams Syndrome	20824207	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93433800-93441200	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr4:93435600-93440800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr4:93436000-93441600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:93436200-93440800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:93437000-93440800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr4:93438000-93441200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr4:93438000-93441600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:93438000-93443200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:93438000-93443400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:93438400-93444200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr4:93438600-93447000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr4:93439000-93440800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr4:93439200-93441600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:93440000-93440800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr4:93440000-93441600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr4:93440200-93441200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:93440800-93441200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr4:93440800-93441600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr4:93440800-93441800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr4:93440800-93441800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr4:93440800-93443800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:93441200-93441600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr4:93441200-93441600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:93441200-93441600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr4:93441200-93441800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:93441200-93441800	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr4:93441400-93442200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:93441600-93442000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:93441600-93442000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:93441600-93442000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:93441600-93442000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr4:93441600-93442200	Enhancers	Fetal Intestine Small	intestine
33	chr4:93441600-93442600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr4:93441600-93443000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:93441600-93445600	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr4:93441600-93447000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr4:93441600-93447000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr4:93441800-93442200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:93441800-93442200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:93441800-93442600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:93441800-93442600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr4:93441800-93442800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr4:93441800-93447400	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr4:93442000-93443400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:93442000-93443400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr4:93442200-93442600	Weak transcription	Fetal Intestine Small	intestine
47	chr4:93442200-93443200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr4:93442200-93443400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr4:93442600-93442800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:93442600-93443600	Enhancers	ES-WA7 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links