Variant report

Variant	nsv1054691
Chromosome Location	chr13:85078280-85100978
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr13:85094343-85094407	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr13:85088886-85089161	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr13:85088849-85089208	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr13:85088896-85089183	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr13:85088863-85089225	MCF10A-Er-Src	breast:	n/a	n/a
6	JUN	chr13:85080403-85080772	K562	blood:	n/a	n/a
7	MAFK	chr13:85085603-85085853	HepG2	liver:	n/a	n/a
8	MAFK	chr13:85087454-85087662	HepG2	liver:	n/a	n/a
9	NFYA	chr13:85100795-85100888	GM12878	blood:	n/a	n/a
10	POLR2A	chr13:85091356-85091409	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr13:85078434-85078634	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr13:85093032-85093066	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr13:85080522-85080709	MCF10A-Er-Src	breast:	n/a	n/a
14	STAT3	chr13:85088809-85089180	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT3	chr13:85088773-85089212	MCF10A-Er-Src	breast:	n/a	chr13:85089193-85089201 chr13:85089190-85089204
16	STAT3	chr13:85099155-85099175	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr13:85088586-85089044	MCF10A-Er-Src	breast:	n/a	n/a
18	STAT3	chr13:85088797-85089134	MCF10A-Er-Src	breast:	n/a	n/a
19	USF2	chr13:85090704-85090865	H1-hESC	embryonic stem cell:	n/a	n/a
20	ZNF143	chr13:85090645-85090845	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK5-31	chr13:85095860-85096300	NONHSAT034552
2	lnc-SLITRK5-31	chr13:85096692-85098050	NONHSAT034552
3	lnc-SLITRK5-32	chr13:85094238-85095703	NONHSAT034551

Variant related genes	Relation type
MTND4P1	TF binding region
MTND5P3	TF binding region

Extended variants
information (count: 152 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:152 , 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	rs556231015	chr13:85089619-85089620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575966246	chr13:85089622-85089623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372466051	chr13:85089655-85089656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544963083	chr13:85089672-85089673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564631218	chr13:85089700-85089701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs578168939	chr13:85089719-85089720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540462773	chr13:85089740-85089741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560307931	chr13:85089851-85089852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529372121	chr13:85089882-85089883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549048545	chr13:85089941-85089942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562607494	chr13:85089952-85089953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531629915	chr13:85089993-85089994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181130976	chr13:85090648-85090649	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs565261137	chr13:85090649-85090650	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs547731530	chr13:85090657-85090658	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs567541405	chr13:85090660-85090661	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs143354596	chr13:85090692-85090693	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs373544780	chr13:85090709-85090710	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs549963785	chr13:85090730-85090731	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs569693962	chr13:85090741-85090742	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs138922077	chr13:85090744-85090745	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs186946615	chr13:85090794-85090795	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs191840584	chr13:85090799-85090800	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs9546736	chr13:85090859-85090860	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs17078297	chr13:85093039-85093040	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs11616451	chr13:85094266-85094267	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs181461513	chr13:85094282-85094283	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs186427358	chr13:85094285-85094286	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs535422484	chr13:85094304-85094305	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs549031384	chr13:85094306-85094307	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs569089140	chr13:85094343-85094344	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs537656575	chr13:85094345-85094346	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs17078302	chr13:85094381-85094382	Inactive region	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs577861524	chr13:85094446-85094447	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs17078303	chr13:85094479-85094480	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs553838101	chr13:85094502-85094503	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs190126828	chr13:85094510-85094511	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs542561946	chr13:85094513-85094514	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs373371857	chr13:85094515-85094516	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs77214268	chr13:85094516-85094517	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs74102907	chr13:85094557-85094558	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs575884061	chr13:85094562-85094563	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs5020766	chr13:85094603-85094604	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs185908428	chr13:85094635-85094636	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs533282778	chr13:85094660-85094661	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs74102908	chr13:85094688-85094689	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs560182776	chr13:85094703-85094704	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs573522269	chr13:85094711-85094712	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs529140810	chr13:85094716-85094717	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs529255876	chr13:85094717-85094718	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21858162	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Epilepsy	20502679	CNVD
Non-small cell lung cancer	16651412	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:85089600-85090000	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr13:85089600-85090000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr13:85096200-85096400	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr13:85097000-85097200	Enhancers	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links