Variant report

Variant	nsv1006957
Chromosome Location	chr4:93389054-93511561
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:7)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:93434886..93436541-chr4:93486388..93487907,2	MCF-7	breast:
2	chr4:93404272..93404961-chr4:93422474..93423086,2	MCF-7	breast:
3	chr4:93384358..93386319-chr4:93419609..93421147,2	K562	blood:
4	chr4:93404272..93405260-chr4:93422586..93423310,3	MCF-7	breast:
5	chr4:93434886..93436541-chr4:93486388..93487907,2	MCF-7	breast:
6	chr4:93404272..93405260-chr4:93422586..93423310,3	MCF-7	breast:
7	chr4:93404272..93404961-chr4:93422474..93423086,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-9B6.1.1-4	chr4:93402672-93403529	ucscGeneNc_uc010ikw_1
2	lnc-RP11-9B6.1.1-4	chr4:93417224-93417476	ucscGeneNc_uc010ikw_1
3	lnc-RP11-9B6.1.1-4	chr4:93409417-93409530	ucscGeneNc_uc010ikw_1

No data

Extended variants
information (count: 4758 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:4758 , 50 per page) page: 1 2 3 4 5 6 7 ... 96

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563273674	chr4:93389077-93389078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147337021	chr4:93389120-93389121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562901068	chr4:93389159-93389160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146548380	chr4:93389203-93389204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75213447	chr4:93389206-93389207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531937672	chr4:93389209-93389210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192290390	chr4:93389217-93389218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565053024	chr4:93389234-93389235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141020237	chr4:93389345-93389346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184718041	chr4:93389358-93389359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6532370	chr4:93389386-93389387	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs529162913	chr4:93389425-93389426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549266330	chr4:93389440-93389441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572756101	chr4:93389449-93389450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142432420	chr4:93389473-93389474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558019326	chr4:93389493-93389494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6532371	chr4:93389553-93389554	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs533924366	chr4:93389578-93389579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562615578	chr4:93389609-93389610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539877156	chr4:93389624-93389625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368506187	chr4:93389677-93389678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550989189	chr4:93389679-93389680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573590949	chr4:93389694-93389695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs151302909	chr4:93389716-93389717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73837303	chr4:93389718-93389719	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs188295202	chr4:93389729-93389730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368493203	chr4:93389739-93389740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576527622	chr4:93389754-93389755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192144306	chr4:93389790-93389791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184566501	chr4:93389795-93389796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189331238	chr4:93389942-93389943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565164685	chr4:93389984-93389985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527776921	chr4:93389987-93389988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139340604	chr4:93390041-93390042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192462618	chr4:93390060-93390061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185013781	chr4:93390108-93390109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189051440	chr4:93390143-93390144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548976135	chr4:93390170-93390171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149910535	chr4:93390225-93390226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531667300	chr4:93390280-93390281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182137817	chr4:93390338-93390339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571510530	chr4:93390349-93390350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533831525	chr4:93390351-93390352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146446679	chr4:93390378-93390379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567124088	chr4:93390403-93390404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375497340	chr4:93390432-93390433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555918932	chr4:93390443-93390444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576651574	chr4:93390456-93390457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140833984	chr4:93390467-93390468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558717447	chr4:93390569-93390570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Cancer	20164919	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Williams Syndrome	20824207	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Bipolar disorder	19114987	CNVD
Autism	20841430	CNVD

Chromatin state (count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93376800-93396600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:93377000-93403400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:93384800-93392400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:93385600-93393600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr4:93386400-93389600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr4:93386400-93392200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr4:93388000-93395400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:93388600-93389200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr4:93388600-93394600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:93388800-93390600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr4:93389200-93396600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr4:93389600-93390600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr4:93390600-93391800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr4:93390600-93392600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr4:93391800-93396800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr4:93392200-93392600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:93392200-93393000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr4:93392400-93393000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr4:93392600-93393200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr4:93392600-93398400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr4:93392600-93399600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr4:93393000-93393800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr4:93393000-93397400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr4:93393200-93393600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr4:93393600-93394400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr4:93393600-93394400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr4:93393600-93394600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr4:93393800-93394600	Enhancers	H1 Cell Line	embryonic stem cell
29	chr4:93394400-93396800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr4:93394400-93399400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr4:93394600-93395600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr4:93394600-93398000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr4:93394600-93398400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr4:93395400-93399800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:93395600-93395800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr4:93395800-93396200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr4:93396200-93402200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr4:93396600-93397400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr4:93396600-93400200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr4:93396800-93397000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr4:93396800-93398600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr4:93397000-93397400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr4:93397400-93398800	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr4:93397400-93401400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr4:93397400-93402200	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr4:93398000-93398800	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr4:93398400-93398800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr4:93398400-93398800	Enhancers	H1 Cell Line	embryonic stem cell
49	chr4:93398600-93402000	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr4:93398800-93399200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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