Variant report

Variant	esv3333804
Chromosome Location	chr13:88457951-88461049
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	MAFK	chr13:88460460-88460651	HepG2	liver:	n/a	chr13:88460637-88460648 chr13:88460637-88460648
2	NFYB	chr13:88458386-88458660	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr13:88459047-88459139	MCF10A-Er-Src	breast:	n/a	n/a
4	REST	chr13:88457808-88458497	H1-neurons	neurons:	n/a	n/a
5	RFX5	chr13:88460319-88460652	Hela-S3	cervix:	n/a	chr13:88460474-88460482

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK6-15	chr13:88459889-88463487	ENSG00000272046.1

Variant related genes	Relation type
LINC00397	TF binding region

Extended variants
information (count: 84 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191637322	chr13:88458020-88458021	Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs183463152	chr13:88458098-88458099	Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs186365878	chr13:88458237-88458238	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs542157273	chr13:88458358-88458359	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs144154660	chr13:88458366-88458367	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs371159909	chr13:88458370-88458371	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs146049722	chr13:88458451-88458452	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs190330184	chr13:88458486-88458487	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs372869851	chr13:88458510-88458511	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs182190641	chr13:88458538-88458539	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs569203564	chr13:88458555-88458556	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs73580563	chr13:88458572-88458573	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs555782412	chr13:88458587-88458588	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs564796817	chr13:88458608-88458609	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs79441300	chr13:88458631-88458632	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs566571486	chr13:88458689-88458690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533940291	chr13:88458747-88458748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530642546	chr13:88458748-88458749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139703374	chr13:88458769-88458770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1335389	chr13:88458842-88458843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537492497	chr13:88458853-88458854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560913880	chr13:88458867-88458868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574825461	chr13:88458899-88458900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9518507	chr13:88458913-88458914	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs186927884	chr13:88458929-88458930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535092219	chr13:88458937-88458938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111977805	chr13:88459033-88459034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546371526	chr13:88459047-88459048	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs567174417	chr13:88459079-88459080	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs564470031	chr13:88459133-88459134	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs538822009	chr13:88459135-88459136	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs192492559	chr13:88459160-88459161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184241257	chr13:88459171-88459172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529275445	chr13:88459193-88459194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188794225	chr13:88459205-88459206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544552505	chr13:88459309-88459310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560354794	chr13:88459327-88459328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34410970	chr13:88459366-88459367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113483228	chr13:88459379-88459380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111643624	chr13:88459390-88459391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577956721	chr13:88459404-88459405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35045655	chr13:88459411-88459412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374869272	chr13:88459460-88459461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs60450584	chr13:88459462-88459463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370931000	chr13:88459463-88459464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2039571	chr13:88459464-88459465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9557733	chr13:88459488-88459489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs60193166	chr13:88459489-88459490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537529673	chr13:88459511-88459512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549430103	chr13:88459522-88459523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	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
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
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Breast cancer	17142309	CNVD
Mental retardation	17847001	CNVD
Medulloblastoma	19270706	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:88456800-88458000	Weak transcription	Hela-S3	cervix
2	chr13:88457000-88461000	Weak transcription	A549	lung
3	chr13:88458000-88458200	Flanking Active TSS	Hela-S3	cervix
4	chr13:88458200-88458400	Active TSS	Hela-S3	cervix
5	chr13:88458400-88460800	Weak transcription	Hela-S3	cervix
6	chr13:88460800-88463800	Active TSS	Hela-S3	cervix
7	chr13:88461000-88463800	Active TSS	A549	lung

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