Variant report

Variant	nsv882792
Chromosome Location	chr5:120183146-120296787
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:120193977..120195872-chr5:120199617..120202112,2	K562	blood:
2	chr5:120211985..120214324-chr5:120217571..120220442,2	K562	blood:
3	chr5:120250931..120253908-chr5:120254077..120258114,3	K562	blood:
4	chr5:120250931..120253908-chr5:120254077..120258114,3	K562	blood:
5	chr5:120211985..120214324-chr5:120217571..120220442,2	K562	blood:
6	chr5:120182804..120185937-chr5:120188813..120191326,3	K562	blood:
7	chr5:120250931..120253908-chr5:120255261..120258114,2	K562	blood:
8	chr5:120182804..120185937-chr5:120188813..120191326,3	K562	blood:
9	chr5:120250931..120253908-chr5:120255261..120258114,2	K562	blood:
10	chr5:120193977..120195872-chr5:120199617..120202112,2	K562	blood:

No data

Extended variants
information (count: 2744 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:2744 , 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	rs6895392	chr5:120183146-120183147	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs181845419	chr5:120183148-120183149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531926673	chr5:120183168-120183169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10077777	chr5:120183177-120183178	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs547182968	chr5:120183222-120183223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371983981	chr5:120183226-120183227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113232165	chr5:120183239-120183240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555359222	chr5:120183256-120183257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536322812	chr5:120183259-120183260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140338618	chr5:120183296-120183297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10054920	chr5:120183320-120183321	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs533707054	chr5:120183321-120183322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567819995	chr5:120183376-120183377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370012467	chr5:120183377-120183378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558787407	chr5:120183390-120183391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577209467	chr5:120183451-120183452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538185312	chr5:120183473-120183474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551060516	chr5:120183474-120183475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144301650	chr5:120183475-120183476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569358721	chr5:120183491-120183492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542230559	chr5:120183509-120183510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113792219	chr5:120183578-120183579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560350326	chr5:120183580-120183581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572512195	chr5:120183586-120183587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545946940	chr5:120183651-120183652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577445221	chr5:120183667-120183668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564378536	chr5:120183668-120183669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531866823	chr5:120183787-120183788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550088442	chr5:120183803-120183804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562426117	chr5:120183823-120183824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539871011	chr5:120183884-120183885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529621588	chr5:120183900-120183901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548175539	chr5:120183963-120183964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12523006	chr5:120183966-120183967	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs533919773	chr5:120184000-120184001	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186216594	chr5:120184005-120184006	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139567589	chr5:120184043-120184044	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538118832	chr5:120184049-120184050	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189124373	chr5:120184072-120184073	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181489841	chr5:120184077-120184078	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186607813	chr5:120184078-120184079	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566767828	chr5:120184094-120184095	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191152559	chr5:120184118-120184119	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545926374	chr5:120184150-120184151	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12520867	chr5:120184162-120184163	Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs576201565	chr5:120184178-120184179	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543621623	chr5:120184219-120184220	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12234110	chr5:120184221-120184222	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs183051011	chr5:120184278-120184279	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs117135411	chr5:120184292-120184293	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
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
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
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:178 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120179400-120186800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:120179600-120184200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:120179800-120186600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:120180000-120184200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr5:120180000-120184400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr5:120180000-120186800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr5:120180200-120184400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:120180200-120184400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:120180200-120184400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:120184000-120185000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
11	chr5:120184200-120184400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
12	chr5:120184200-120184600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:120184200-120184800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:120184200-120184800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:120184200-120185400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
16	chr5:120184200-120185600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
17	chr5:120184200-120185600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr5:120184400-120184800	Enhancers	H1 Cell Line	embryonic stem cell
19	chr5:120184400-120184800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr5:120184400-120184800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:120184400-120184800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:120184400-120184800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:120184400-120184800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr5:120184400-120184800	Enhancers	Fetal Muscle Trunk	muscle
25	chr5:120184400-120185200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr5:120184400-120185400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr5:120184600-120184800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:120184600-120188200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr5:120184800-120185600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr5:120184800-120185600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
31	chr5:120184800-120187000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr5:120184800-120187200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:120185400-120185600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
34	chr5:120185600-120185800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
35	chr5:120185600-120185800	Enhancers	H1 Cell Line	embryonic stem cell
36	chr5:120185600-120186800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr5:120186400-120186600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
38	chr5:120186600-120187800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:120186600-120188800	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr5:120186600-120189400	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr5:120186800-120187400	Enhancers	H9 Cell Line	embryonic stem cell
42	chr5:120186800-120188000	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr5:120186800-120188200	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr5:120186800-120188800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr5:120186800-120189000	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr5:120186800-120189400	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr5:120187000-120187200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr5:120187000-120188800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr5:120187000-120188800	Enhancers	H1 Cell Line	embryonic stem cell
50	chr5:120187200-120188000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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