Variant report

Variant	nsv599142
Chromosome Location	chr5:98919157-99005777
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:229)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:229 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr5:98927320-98927465	K562	blood:	n/a	n/a
2	CEBPB	chr5:98922470-98923076	MCF-7	breast:	n/a	n/a
3	CEBPB	chr5:98926512-98927045	MCF-7	breast:	n/a	n/a
4	CEBPB	chr5:98942379-98942440	HepG2	liver:	n/a	chr5:98942416-98942427
5	CEBPB	chr5:98922755-98922860	HepG2	liver:	n/a	n/a
6	CEBPB	chr5:98949448-98949665	A549	lung:	n/a	chr5:98949503-98949516
7	CEBPB	chr5:98930693-98930960	HepG2	liver:	n/a	chr5:98930825-98930836
8	CEBPB	chr5:98949487-98949659	IMR90	lung:	n/a	chr5:98949503-98949516
9	CEBPB	chr5:98986963-98987222	K562	blood:	n/a	chr5:98987138-98987149
10	CEBPB	chr5:98949483-98949681	HepG2	liver:	n/a	chr5:98949503-98949516
11	CEBPB	chr5:98986986-98987320	HepG2	liver:	n/a	chr5:98987138-98987149
12	CEBPB	chr5:98922562-98922967	MCF-7	breast:	n/a	n/a
13	CEBPB	chr5:98986993-98987297	IMR90	lung:	n/a	chr5:98987138-98987149
14	CEBPB	chr5:98922716-98922875	A549	lung:	n/a	n/a
15	CTCF	chr5:98982114-98982210	MCF-7	breast:	n/a	n/a
16	CTCF	chr5:98982120-98982200	MCF-7	breast:	n/a	n/a
17	CTCF	chr5:98982113-98982189	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr5:98920060-98920133	GM13976	blood:	n/a	n/a
19	CTCF	chr5:98949600-98949750	HRE	kidney:	n/a	n/a
20	CTCF	chr5:98956324-98956358	Gliobla	brain:	n/a	n/a
21	CTCF	chr5:98982000-98982150	HPF	lung:	n/a	n/a
22	CTCF	chr5:98982114-98982207	MCF-7	breast:	n/a	n/a
23	CTCF	chr5:98920317-98920334	GM13976	blood:	n/a	n/a
24	CTCF	chr5:98982144-98982187	MCF-7	breast:	n/a	n/a
25	CTCF	chr5:98920061-98920068	Kidney_OC	kidney:	n/a	n/a
26	CTCF	chr5:98952074-98952106	Lung_OC	lung:	n/a	n/a
27	CTCF	chr5:98973060-98973153	GM20000	blood:	n/a	n/a
28	CTCF	chr5:98994680-98994830	BE2_C	brain:	n/a	n/a
29	CTCF	chr5:98963782-98963860	ProgFib	skin:	n/a	n/a
30	CTCF	chr5:98978840-98978990	GM12878	blood:	n/a	n/a
31	CTCF	chr5:98977834-98977855	GM10266	blood:	n/a	n/a
32	CTCF	chr5:98934969-98935013	GM13976	blood:	n/a	n/a
33	CTCF	chr5:98982090-98982213	Gliobla	brain:	n/a	n/a
34	CTCF	chr5:98982067-98982246	NHEK	skin:	n/a	n/a
35	CTCF	chr5:98982105-98982175	GM19239	blood:	n/a	n/a
36	CTCF	chr5:98982020-98982170	HCT-116	colon:	n/a	n/a
37	CTCF	chr5:98982118-98982215	A549	lung:	n/a	n/a
38	CTCF	chr5:98973041-98973105	GM10248	blood:	n/a	n/a
39	CTCF	chr5:98919778-98919812	Medullo	brain:	n/a	n/a
40	CTCF	chr5:98982097-98982220	MCF-7	breast:	n/a	n/a
41	CTCF	chr5:98982154-98982204	GM12891	blood:	n/a	n/a
42	CTCF	chr5:98920719-98920846	GM20000	blood:	n/a	n/a
43	E2F4	chr5:98925692-98925865	MCF10A-Er-Src	breast:	n/a	n/a
44	E2F4	chr5:99004875-99005153	MCF10A-Er-Src	breast:	n/a	chr5:99005139-99005148
45	EP300	chr5:98975571-98976027	HepG2	liver:	n/a	chr5:98975885-98975895
46	EP300	chr5:98923774-98923830	GM12878	blood:	n/a	n/a
47	EP300	chr5:98936638-98937043	MCF-7	breast:	n/a	n/a
48	EP300	chr5:98967080-98967203	GM12878	blood:	n/a	n/a
49	EP300	chr5:98936711-98937117	T-47D	breast:	n/a	n/a
50	EP300	chr5:98942736-98943290	T-47D	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:98983247..98985665-chr5:98986689..98988477,2	K562	blood:
2	chr5:98936687..98938908-chr5:98939757..98941511,2	MCF-7	breast:
3	chr5:98983247..98985665-chr5:98986689..98988477,2	K562	blood:
4	chr5:98936687..98938908-chr5:98939757..98941511,2	MCF-7	breast:
5	chr5:99005599..99009743-chr5:99010276..99013460,3	MCF-7	breast:
6	chr5:98973640..98976479-chr5:98981401..98983390,2	MCF-7	breast:
7	chr5:98973640..98976479-chr5:98981401..98983390,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGMB-9	chr5:98930584-98931001	NONHSAT102983
2	lnc-CHD1-8	chr5:98930033-98930444	NONHSAT102982

No data

Variant related genes	Relation type
ENSG00000248928	TF binding region
ENSG00000248236	TF binding region

Extended variants
information (count: 1056 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1056 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17167077	chr5:98919157-98919158	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537453921	chr5:98919169-98919170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555838852	chr5:98919171-98919172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188309859	chr5:98919184-98919185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539931987	chr5:98919188-98919189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558022403	chr5:98919196-98919197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200806856	chr5:98919252-98919253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201934957	chr5:98919271-98919272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs193280530	chr5:98919280-98919281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9326838	chr5:98919338-98919339	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs2548096	chr5:98919372-98919373	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs556083719	chr5:98919388-98919389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115376880	chr5:98919439-98919440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116703693	chr5:98919441-98919442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560595435	chr5:98919450-98919451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149527536	chr5:98919474-98919475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111778439	chr5:98919476-98919477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546692520	chr5:98919481-98919482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs60363358	chr5:98919484-98919485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147026545	chr5:98919490-98919491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532339548	chr5:98919528-98919529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550563448	chr5:98919645-98919646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569164675	chr5:98919665-98919666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559233964	chr5:98919718-98919719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536597584	chr5:98919805-98919806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555777255	chr5:98919809-98919810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567698016	chr5:98919823-98919824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs202029301	chr5:98920200-98920201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112500362	chr5:98920350-98920351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs3931729	chr5:98920633-98920634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534774130	chr5:98920661-98920662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553453818	chr5:98920666-98920667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs578074655	chr5:98920669-98920670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs3931730	chr5:98920714-98920715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs17164037	chr5:98920720-98920721	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs557170856	chr5:98920759-98920760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575527041	chr5:98920774-98920775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201375389	chr5:98920783-98920784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145943427	chr5:98920860-98920861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201938744	chr5:98920941-98920942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs3870962	chr5:98920979-98920980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560529152	chr5:98921091-98921092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528113457	chr5:98921140-98921141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2682162	chr5:98921173-98921174	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs374306186	chr5:98921227-98921228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140250056	chr5:98921234-98921235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532149983	chr5:98921264-98921265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2249509	chr5:98921277-98921278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs144213815	chr5:98921308-98921309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530000584	chr5:98921317-98921318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98915200-98930800	Weak transcription	Fetal Heart	heart
2	chr5:98919000-98919600	Enhancers	HUVEC	blood vessel
3	chr5:98922200-98923000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:98922800-98923400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:98930800-98931800	Enhancers	Fetal Heart	heart
6	chr5:98931800-98932000	Flanking Active TSS	Fetal Heart	heart
7	chr5:98932000-98932200	Enhancers	Fetal Heart	heart
8	chr5:98932200-98932400	Flanking Active TSS	Fetal Heart	heart
9	chr5:98932400-98932600	Enhancers	Fetal Heart	heart
10	chr5:98936600-98937200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr5:98936600-98937800	Enhancers	HUVEC	blood vessel
12	chr5:98936600-98938200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:98937200-98937600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:98937200-98937600	Enhancers	Dnd41	blood
15	chr5:98937400-98938000	Enhancers	Adipose Nuclei	Adipose
16	chr5:98937600-98938000	Flanking Active TSS	Dnd41	blood
17	chr5:98937800-98938000	Enhancers	Pancreas	Pancrea
18	chr5:98938000-98938200	Enhancers	Dnd41	blood
19	chr5:98939400-98946400	Weak transcription	Pancreas	Pancrea
20	chr5:98950600-98951200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr5:98950800-98951200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:98957600-98958000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:98957800-98958200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr5:98957800-98958200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:98957800-98958400	Enhancers	H1 Cell Line	embryonic stem cell
26	chr5:98958000-98958400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:98958000-98958600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr5:98972000-98972400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:98979000-98979200	Active TSS	H9 Cell Line	embryonic stem cell
30	chr5:98981800-98982200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:98981800-98982200	Enhancers	NHEK	skin
32	chr5:98982000-98982200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:98982200-98983600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:98983600-98983800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:98983800-98984800	Enhancers	Fetal Heart	heart
36	chr5:98984800-98985800	Weak transcription	Fetal Heart	heart
37	chr5:98985800-98986000	Enhancers	Fetal Heart	heart
38	chr5:98993800-98994800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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