Variant report

Variant	nsv8958
Chromosome Location	chr12:37964189-37983614
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	CTCF	chr12:37975310-37975402	Medullo	brain:	n/a	chr12:37975344-37975360
2	CTCF	chr12:37975299-37975364	MCF-7	breast:	n/a	chr12:37975344-37975360
3	CTCF	chr12:37975200-37975350	HEK293	kidney:	n/a	chr12:37975256-37975263 chr12:37975277-37975285
4	CTCF	chr12:37975200-37975350	BE2_C	brain:	n/a	chr12:37975256-37975263 chr12:37975277-37975285
5	CTCF	chr12:37975294-37975382	MCF-7	breast:	n/a	chr12:37975344-37975360
6	CTCF	chr12:37975293-37975382	MCF-7	breast:	n/a	chr12:37975344-37975360
7	CTCF	chr12:37975289-37975375	MCF-7	breast:	n/a	chr12:37975344-37975360
8	CTCF	chr12:37975271-37975417	LNCaP	prostate:	n/a	chr12:37975344-37975360 chr12:37975277-37975285
9	CTCF	chr12:37975290-37975385	K562	blood:	n/a	chr12:37975344-37975360
10	CTCF	chr12:37975293-37975386	LNCaP	prostate:	n/a	chr12:37975344-37975360
11	MAFK	chr12:37973824-37973892	HepG2	liver:	n/a	n/a
12	MAFK	chr12:37976829-37976985	HepG2	liver:	n/a	n/a
13	SPI1	chr12:37980369-37980531	GM12878	blood:	n/a	chr12:37980518-37980531
14	SPI1	chr12:37980367-37980554	GM12891	blood:	n/a	chr12:37980518-37980531
15	SPI1	chr12:37980373-37980542	GM12878	blood:	n/a	chr12:37980518-37980531
16	SPI1	chr12:37980367-37980534	GM12891	blood:	n/a	chr12:37980518-37980531
17	USF1	chr12:37979077-37979356	HepG2	liver:	n/a	chr12:37979253-37979264
18	USF1	chr12:37979134-37979347	HepG2	liver:	n/a	chr12:37979253-37979264

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALG10B-10	chr12:37969385-37969515	NONHSAT027669
2	lnc-ALG10B-10	chr12:37970091-37970259	NONHSAT027669
3	lnc-ALG10B-10	chr12:37969251-37969555	NONHSAT027668
4	lnc-ALG10B-10	chr12:37970091-37970186	NONHSAT027668

Variant related genes	Relation type
ENSG00000258368	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs58690601	chr12:37969298-37969299	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567371315	chr12:37969300-37969301	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs536202683	chr12:37969304-37969305	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs555902304	chr12:37969313-37969314	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs569904868	chr12:37969321-37969322	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs538542160	chr12:37969322-37969323	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs558464143	chr12:37969375-37969376	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs183993682	chr12:37969406-37969407	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs367882493	chr12:37969554-37969555	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs569734770	chr12:37970131-37970132	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs12322535	chr12:37970164-37970165	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs7968961	chr12:37970165-37970166	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs540153727	chr12:37970169-37970170	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs548495201	chr12:37970182-37970183	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs568156159	chr12:37970194-37970195	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs537301507	chr12:37970200-37970201	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs7957612	chr12:37970217-37970218	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs528881210	chr12:37970221-37970222	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs12426330	chr12:37970228-37970229	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs191644976	chr12:37982240-37982241	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs184152560	chr12:37982272-37982273	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs539787709	chr12:37982295-37982296	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs570275533	chr12:37982332-37982333	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs539349206	chr12:37982341-37982342	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs141756210	chr12:37982352-37982353	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs572347747	chr12:37982359-37982360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs534412719	chr12:37982362-37982363	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs76188630	chr12:37982435-37982436	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs574057392	chr12:37982473-37982474	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs543071603	chr12:37982476-37982477	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs7314829	chr12:37982478-37982479	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs188557443	chr12:37982479-37982480	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs540328859	chr12:37982483-37982484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs546118341	chr12:37982500-37982501	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	20858243	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:37982200-37982600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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