Variant report

Variant	esv3394548
Chromosome Location	chr4:91500980-91508514
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 160 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:160 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556937793	chr4:91501002-91501003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553675391	chr4:91501020-91501021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187020224	chr4:91501027-91501028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs80005124	chr4:91501028-91501029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575195130	chr4:91501034-91501035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542621272	chr4:91501114-91501115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190702724	chr4:91501251-91501252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550368584	chr4:91501273-91501274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557804333	chr4:91501309-91501310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545475765	chr4:91501398-91501399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182940367	chr4:91501459-91501460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527907669	chr4:91501487-91501488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547975388	chr4:91501495-91501496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74428887	chr4:91501515-91501516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141665242	chr4:91501530-91501531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10003689	chr4:91501578-91501579	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs568824107	chr4:91501581-91501582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540506795	chr4:91501607-91501608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1510795	chr4:91501614-91501615	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs150515992	chr4:91501619-91501620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541664546	chr4:91501687-91501688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138607261	chr4:91501735-91501736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534010568	chr4:91501761-91501762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6842528	chr4:91501821-91501822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs405468	chr4:91501825-91501826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529606419	chr4:91501911-91501912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115856833	chr4:91501933-91501934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs17017207	chr4:91501957-91501958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs115415438	chr4:91502063-91502064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576361623	chr4:91502066-91502067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs78846742	chr4:91502079-91502080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542930198	chr4:91502081-91502082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs28537257	chr4:91502188-91502189	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs188580316	chr4:91502190-91502191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76381740	chr4:91502337-91502338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs193137473	chr4:91502344-91502345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561461176	chr4:91502414-91502415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370324202	chr4:91502452-91502453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530456173	chr4:91502495-91502496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562273834	chr4:91502576-91502577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544844177	chr4:91502577-91502578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs17017210	chr4:91502602-91502603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563282634	chr4:91502615-91502616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562373426	chr4:91502627-91502628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185661115	chr4:91502636-91502637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112175765	chr4:91502708-91502709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs74719409	chr4:91502714-91502715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571332506	chr4:91502752-91502753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34001124	chr4:91502753-91502754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs187784250	chr4:91502758-91502759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Multiple myeloma	17550852	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
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91494400-91501600	Weak transcription	Left Ventricle	heart
2	chr4:91500600-91501600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr4:91500600-91501800	Enhancers	Fetal Kidney	kidney
4	chr4:91501200-91501800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr4:91501200-91502200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr4:91501400-91501800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr4:91501400-91501800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:91501400-91501800	Enhancers	Fetal Lung	lung
9	chr4:91501400-91502000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr4:91501400-91502000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr4:91501400-91502000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr4:91501400-91502400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr4:91501400-91503800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr4:91501600-91501800	Enhancers	Left Ventricle	heart
15	chr4:91501600-91504000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr4:91501800-91502800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr4:91501800-91503000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:91501800-91503400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr4:91502000-91503000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr4:91502000-91503200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr4:91502000-91505200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr4:91502200-91502600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr4:91502400-91502800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr4:91502600-91504000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr4:91502800-91503800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr4:91502800-91504000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr4:91503000-91503600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr4:91503200-91503400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:91503400-91503600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr4:91503400-91503800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr4:91503800-91505000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr4:91503800-91505200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr4:91504000-91505000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr4:91504000-91505200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr4:91505000-91505400	Enhancers	Adipose Nuclei	Adipose
36	chr4:91505200-91505400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr4:91505200-91505400	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr4:91505200-91505400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr4:91505200-91505800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr4:91505400-91505600	Enhancers	H1 Cell Line	embryonic stem cell

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