Variant report

Variant	nsv830407
Chromosome Location	chr5:94447530-94495329
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	chr22:43032238..43033039-chr5:94475529..94476265,2	MCF-7	breast:
2	chr5:94473158..94475610-chr5:94477996..94480194,2	MCF-7	breast:
3	chr5:94465786..94467413-chr5:94468405..94470890,2	K562	blood:
4	chr5:94445112..94447022-chr5:94447198..94449772,2	MCF-7	breast:
5	chr5:94465786..94467413-chr5:94468405..94470890,2	K562	blood:
6	chr5:94457518..94459847-chr5:94460973..94464173,3	K562	blood:
7	chr5:94473158..94475610-chr5:94477996..94480194,2	MCF-7	breast:
8	chr5:94490981..94492982-chr5:94495878..94497661,2	K562	blood:
9	chr5:94457518..94459847-chr5:94460973..94464173,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100243	chromatin interactions

Extended variants
information (count: 818 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:818 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4869235	chr5:94447552-94447553	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs115521967	chr5:94447562-94447563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189870088	chr5:94447570-94447571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568939846	chr5:94447591-94447592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537498694	chr5:94447629-94447630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557177117	chr5:94447639-94447640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376563736	chr5:94447696-94447697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577011111	chr5:94447721-94447722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78570003	chr5:94447755-94447756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553607222	chr5:94447759-94447760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145248883	chr5:94447772-94447773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142340174	chr5:94447777-94447778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561888254	chr5:94447786-94447787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146446936	chr5:94447859-94447860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147952577	chr5:94447899-94447900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181150517	chr5:94447927-94447928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184566571	chr5:94447959-94447960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11953279	chr5:94448042-94448043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546790845	chr5:94448044-94448045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141828420	chr5:94448045-94448046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188193495	chr5:94448047-94448048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369177704	chr5:94448061-94448062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568755021	chr5:94448090-94448091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541193200	chr5:94448109-94448110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537588385	chr5:94448126-94448127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373933812	chr5:94448130-94448131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551043680	chr5:94448172-94448173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143827561	chr5:94448236-94448237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539665143	chr5:94448296-94448297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73776192	chr5:94448314-94448315	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs182026598	chr5:94448334-94448335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148129808	chr5:94448394-94448395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141046331	chr5:94448421-94448422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575695894	chr5:94448425-94448426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150323365	chr5:94448469-94448470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186413835	chr5:94448474-94448475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs578120147	chr5:94448617-94448618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540434260	chr5:94448623-94448624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560045360	chr5:94448625-94448626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529231037	chr5:94448778-94448779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548996191	chr5:94448838-94448839	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs543570162	chr5:94448845-94448846	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs562176658	chr5:94448862-94448863	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs553552116	chr5:94448867-94448868	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs72779444	chr5:94448886-94448887	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs138004251	chr5:94448950-94448951	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs190824762	chr5:94448951-94448952	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs181935563	chr5:94448956-94448957	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs1159514	chr5:94448959-94448960	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs566943194	chr5:94449009-94449010	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94443600-94448800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr5:94446800-94447800	Enhancers	HUVEC	blood vessel
3	chr5:94447200-94448600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr5:94448400-94449600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:94448600-94448800	Enhancers	Osteobl	bone
6	chr5:94448600-94449200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:94448600-94450400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:94448800-94449000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:94448800-94449200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:94448800-94449200	Flanking Active TSS	Osteobl	bone
11	chr5:94448800-94449400	Enhancers	Fetal Heart	heart
12	chr5:94448800-94449600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr5:94448800-94449600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr5:94448800-94449600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:94448800-94449600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr5:94448800-94449600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr5:94448800-94449600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:94448800-94449800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr5:94448800-94449800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr5:94448800-94449800	Enhancers	HSMM	muscle
21	chr5:94448800-94449800	Enhancers	HSMMtube	muscle
22	chr5:94448800-94449800	Enhancers	NH-A	brain
23	chr5:94448800-94450000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr5:94448800-94450200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:94449000-94449400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:94449000-94449600	Enhancers	H1 Cell Line	embryonic stem cell
27	chr5:94449000-94449600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:94449000-94449600	Enhancers	H9 Cell Line	embryonic stem cell
29	chr5:94449000-94449600	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr5:94449000-94449600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr5:94449000-94449600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr5:94449000-94449800	Enhancers	Fetal Intestine Large	intestine
33	chr5:94449000-94449800	Enhancers	Stomach Mucosa	stomach
34	chr5:94449000-94450600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:94449200-94450000	Enhancers	Osteobl	bone
36	chr5:94449600-94449800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:94459600-94460000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr5:94459800-94460400	Enhancers	Fetal Intestine Large	intestine
39	chr5:94468200-94468400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:94468400-94468600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr5:94470200-94470400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr5:94470200-94470400	Enhancers	H9 Cell Line	embryonic stem cell
43	chr5:94470200-94470600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:94472400-94473000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr5:94473400-94473800	Enhancers	HepG2	liver
46	chr5:94473400-94474000	Enhancers	HUVEC	blood vessel
47	chr5:94473800-94474200	Weak transcription	HepG2	liver
48	chr5:94474000-94474600	Flanking Active TSS	HUVEC	blood vessel
49	chr5:94474000-94475000	Enhancers	Fetal Intestine Large	intestine
50	chr5:94474200-94474600	Active TSS	Adipose Nuclei	Adipose

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