Variant report

Variant	nsv1033608
Chromosome Location	chr5:93741558-93812885
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:93807677..93810311-chr5:93813307..93815784,2	MCF-7	breast:
2	chr5:93797694..93800436-chr5:93809133..93812008,2	MCF-7	breast:
3	chr5:93797694..93800436-chr5:93809133..93812008,2	MCF-7	breast:
4	chr5:93767882..93769641-chr5:93772903..93774904,2	MCF-7	breast:
5	chr5:93767882..93769641-chr5:93772903..93774904,2	MCF-7	breast:
6	chr5:93781108..93783534-chr5:93793352..93795915,2	K562	blood:
7	chr5:93803592..93805289-chr5:93807331..93808943,2	K562	blood:
8	chr5:93803592..93805289-chr5:93807331..93808943,2	K562	blood:
9	chr5:93781108..93783534-chr5:93793352..93795915,2	K562	blood:

No data

Extended variants
information (count: 2225 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:2225 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553624461	chr5:93741578-93741579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573542330	chr5:93741633-93741634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542548053	chr5:93741641-93741642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562015260	chr5:93741705-93741706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184202039	chr5:93741709-93741710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531807112	chr5:93741713-93741714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192509812	chr5:93741717-93741718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544314797	chr5:93741718-93741719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564582912	chr5:93741780-93741781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148503177	chr5:93741788-93741789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182743221	chr5:93741789-93741790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141853602	chr5:93741797-93741798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7717728	chr5:93741801-93741802	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147324458	chr5:93741808-93741809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569099765	chr5:93741869-93741870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377362122	chr5:93741910-93741911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112386006	chr5:93741933-93741934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370471080	chr5:93741956-93741957	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141060310	chr5:93742037-93742038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192562994	chr5:93742059-93742060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144780912	chr5:93742103-93742104	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575380014	chr5:93742174-93742175	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532406514	chr5:93742230-93742231	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147930776	chr5:93742248-93742249	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547583667	chr5:93742311-93742312	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138341851	chr5:93742314-93742315	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376205090	chr5:93742338-93742339	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140370816	chr5:93742354-93742355	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184802697	chr5:93742371-93742372	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528299347	chr5:93742378-93742379	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544568406	chr5:93742381-93742382	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149696890	chr5:93742399-93742400	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs578017138	chr5:93742402-93742403	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs308203	chr5:93742412-93742413	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs187528337	chr5:93742438-93742439	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560264200	chr5:93742541-93742542	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529046675	chr5:93742586-93742587	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548796764	chr5:93742660-93742661	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562777083	chr5:93742666-93742667	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145527819	chr5:93742679-93742680	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551321226	chr5:93742731-93742732	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368866847	chr5:93742822-93742823	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571164434	chr5:93742823-93742824	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527332752	chr5:93742827-93742828	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148823294	chr5:93742902-93742903	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567408458	chr5:93742912-93742913	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536037253	chr5:93742919-93742920	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375939559	chr5:93742956-93742957	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570635946	chr5:93743067-93743068	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555704914	chr5:93743097-93743098	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	22522925	CNVD
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:312 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93682200-93775800	Weak transcription	Ovary	ovary
2	chr5:93696400-93765400	Weak transcription	Aorta	Aorta
3	chr5:93713000-93758600	Weak transcription	Pancreas	Pancrea
4	chr5:93728000-93742600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:93739600-93743800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:93740800-93742400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr5:93740800-93742400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:93740800-93742400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:93741400-93741800	Weak transcription	Hela-S3	cervix
10	chr5:93741400-93742400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr5:93741800-93742800	Strong transcription	Hela-S3	cervix
12	chr5:93742200-93743000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr5:93742400-93742600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr5:93742400-93742800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr5:93742400-93742800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr5:93742400-93743000	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr5:93742400-93743200	Enhancers	NHEK	skin
18	chr5:93742600-93742800	Enhancers	H9 Cell Line	embryonic stem cell
19	chr5:93742600-93742800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr5:93742600-93743000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:93742600-93743200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:93742800-93743000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr5:93742800-93743000	Enhancers	Lung	lung
24	chr5:93742800-93743400	Genic enhancers	Hela-S3	cervix
25	chr5:93742800-93750400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr5:93743400-93745600	Strong transcription	Hela-S3	cervix
27	chr5:93745600-93755000	Weak transcription	Hela-S3	cervix
28	chr5:93750400-93750600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr5:93750400-93750800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:93750600-93758600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr5:93755000-93757600	Strong transcription	Hela-S3	cervix
32	chr5:93755400-93755600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr5:93756600-93757200	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr5:93756600-93757400	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr5:93756600-93757400	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr5:93757200-93758400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr5:93757400-93757800	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr5:93757400-93758800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr5:93757600-93758000	Genic enhancers	Hela-S3	cervix
40	chr5:93757600-93759400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:93757800-93758600	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr5:93757800-93759000	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr5:93758000-93758600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:93758000-93758600	Enhancers	Hela-S3	cervix
45	chr5:93758000-93759000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:93758200-93759000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr5:93758200-93759000	Enhancers	NHEK	skin
48	chr5:93758200-93759600	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr5:93758200-93759600	Enhancers	HUVEC	blood vessel
50	chr5:93758400-93758800	Enhancers	H9 Cell Line	embryonic stem cell

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