Variant report

Variant	nsv974009
Chromosome Location	chr13:40212255-40222785
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	CEBPB	chr13:40212686-40213077	MCF-7	breast:	n/a	chr13:40212864-40212877 chr13:40212864-40212877 chr13:40212866-40212875 chr13:40212866-40212875 chr13:40212864-40212875 chr13:40212866-40212875 chr13:40212866-40212877 chr13:40212866-40212875 chr13:40212864-40212877 chr13:40212866-40212877
2	CEBPB	chr13:40221562-40221889	K562	blood:	n/a	chr13:40221745-40221756
3	CEBPB	chr13:40212649-40213049	MCF-7	breast:	n/a	chr13:40212864-40212877 chr13:40212864-40212877 chr13:40212866-40212875 chr13:40212866-40212875 chr13:40212864-40212875 chr13:40212866-40212875 chr13:40212866-40212877 chr13:40212866-40212875 chr13:40212864-40212877 chr13:40212866-40212877
4	CEBPB	chr13:40212804-40212981	H1-hESC	embryonic stem cell:	n/a	chr13:40212864-40212877 chr13:40212864-40212877 chr13:40212866-40212875 chr13:40212866-40212875 chr13:40212864-40212875 chr13:40212866-40212875 chr13:40212866-40212877 chr13:40212866-40212875 chr13:40212864-40212877 chr13:40212866-40212877
5	CEBPB	chr13:40212705-40213024	IMR90	lung:	n/a	chr13:40212864-40212877 chr13:40212864-40212877 chr13:40212866-40212875 chr13:40212866-40212875 chr13:40212864-40212875 chr13:40212866-40212875 chr13:40212866-40212877 chr13:40212866-40212875 chr13:40212864-40212877 chr13:40212866-40212877
6	CEBPB	chr13:40221651-40221814	H1-hESC	embryonic stem cell:	n/a	chr13:40221745-40221756
7	CEBPB	chr13:40221620-40221882	IMR90	lung:	n/a	chr13:40221745-40221756
8	CEBPB	chr13:40212778-40213023	K562	blood:	n/a	chr13:40212864-40212877 chr13:40212864-40212877 chr13:40212866-40212875 chr13:40212866-40212875 chr13:40212864-40212875 chr13:40212866-40212875 chr13:40212866-40212877 chr13:40212866-40212875 chr13:40212864-40212877 chr13:40212866-40212877
9	CEBPB	chr13:40221586-40221931	HepG2	liver:	n/a	chr13:40221745-40221756
10	CEBPB	chr13:40221606-40221852	A549	lung:	n/a	chr13:40221745-40221756
11	CEBPB	chr13:40212700-40213033	HepG2	liver:	n/a	chr13:40212864-40212877 chr13:40212864-40212877 chr13:40212866-40212875 chr13:40212866-40212875 chr13:40212864-40212875 chr13:40212866-40212875 chr13:40212866-40212877 chr13:40212866-40212875 chr13:40212864-40212877 chr13:40212866-40212877
12	JUND	chr13:40222615-40222793	HepG2	liver:	n/a	chr13:40222773-40222782 chr13:40222773-40222780
13	MAFF	chr13:40212110-40212376	K562	blood:	n/a	n/a
14	MAFK	chr13:40212239-40212372	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAFK	chr13:40212156-40212356	K562	blood:	n/a	n/a
16	MAFK	chr13:40212114-40212319	HepG2	liver:	n/a	n/a
17	MAX	chr13:40211968-40212287	K562	blood:	n/a	n/a
18	MAX	chr13:40212004-40212310	K562	blood:	n/a	n/a
19	MAX	chr13:40211969-40212313	H1-hESC	embryonic stem cell:	n/a	n/a
20	MYC	chr13:40220717-40220817	HUVEC	blood vessel:	n/a	n/a
21	MYC	chr13:40212040-40212288	K562	blood:	n/a	n/a
22	MYC	chr13:40212027-40212340	K562	blood:	n/a	n/a
23	MYC	chr13:40215823-40216155	NB4	blood:	n/a	n/a
24	POLR2A	chr13:40211942-40212279	H1-neurons	neurons:	n/a	n/a
25	POLR2A	chr13:40211909-40212277	H1-neurons	neurons:	n/a	n/a
26	RCOR1	chr13:40212003-40212342	K562	blood:	n/a	n/a
27	REST	chr13:40215822-40216137	HL-60	blood:	n/a	n/a
28	REST	chr13:40215676-40216298	HL-60	blood:	n/a	n/a
29	SETDB1	chr13:40211759-40212317	U2OS	brain:	n/a	n/a
30	SPI1	chr13:40215830-40216214	HL-60	blood:	n/a	n/a
31	SPI1	chr13:40222724-40222920	GM12878	blood:	n/a	chr13:40222845-40222858 chr13:40222846-40222855 chr13:40222844-40222857 chr13:40222847-40222854
32	SPI1	chr13:40221265-40221559	HL-60	blood:	n/a	n/a
33	SPI1	chr13:40215715-40216135	HL-60	blood:	n/a	n/a
34	SPI1	chr13:40222665-40223035	HL-60	blood:	n/a	chr13:40222845-40222858 chr13:40222846-40222855 chr13:40222844-40222857 chr13:40222847-40222854
35	SPI1	chr13:40222665-40223036	HL-60	blood:	n/a	chr13:40222845-40222858 chr13:40222846-40222855 chr13:40222844-40222857 chr13:40222847-40222854

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:40213625..40215126-chr7:30609921..30612815,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COG6-1	chr13:40214443-40215175	XLOC_010354

Variant related genes	Relation type
ENSG00000216014	TF binding region
ENSG00000196295	chromatin interactions

Extended variants
information (count: 83 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116726165	chr13:40212396-40212397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4254189	chr13:40212417-40212418	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs546976527	chr13:40212419-40212420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570159406	chr13:40212433-40212434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201555698	chr13:40212443-40212444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533424505	chr13:40212447-40212448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550241116	chr13:40212502-40212503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187695964	chr13:40212518-40212519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535675336	chr13:40212550-40212551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555792079	chr13:40212656-40212657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139948698	chr13:40212663-40212664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10467467	chr13:40212671-40212672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200040730	chr13:40212683-40212684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs5803001	chr13:40212717-40212718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71080319	chr13:40212721-40212722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570881189	chr13:40212748-40212749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535172695	chr13:40212770-40212771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34797894	chr13:40213650-40213651	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs191883412	chr13:40213675-40213676	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs537821496	chr13:40213726-40213727	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs141314025	chr13:40213727-40213728	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs542151885	chr13:40213752-40213753	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs555249816	chr13:40213766-40213767	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs571943492	chr13:40213802-40213803	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs540688771	chr13:40213805-40213806	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs543371946	chr13:40213844-40213845	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs143231240	chr13:40213850-40213851	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs563147584	chr13:40213877-40213878	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs184495209	chr13:40213897-40213898	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs35009757	chr13:40213900-40213901	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs397703373	chr13:40213910-40213911	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs200345694	chr13:40213965-40213966	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs554285854	chr13:40214038-40214039	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs559115077	chr13:40214067-40214068	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs543043115	chr13:40214107-40214108	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs189251527	chr13:40214164-40214165	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs148303239	chr13:40214222-40214223	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs77645347	chr13:40214248-40214249	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs368426250	chr13:40214263-40214264	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs559954614	chr13:40214312-40214313	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs181769806	chr13:40214343-40214344	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs186469339	chr13:40214422-40214423	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs79144946	chr13:40214466-40214467	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs11618279	chr13:40214520-40214521	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs142318710	chr13:40214563-40214564	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs537589786	chr13:40214582-40214583	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs548062130	chr13:40214589-40214590	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs550693979	chr13:40214641-40214642	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs370679409	chr13:40214642-40214643	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs141320578	chr13:40214697-40214698	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:110)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Ovarian cancer	22355333	CNVD
Glioma	17146433	CNVD
Malignant glioma	17146433	CNVD
Sudden cardiac death	19188705	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40209200-40212800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr13:40215000-40215200	Enhancers	Brain Angular Gyrus	brain

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