Variant report

Variant	nsv975847
Chromosome Location	chr11:55628501-55633005
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	chr11:55628715-55628808	Pancreas_OC	pancreas:	n/a	n/a
2	CTCF	chr11:55628810-55628818	Pancreas_OC	pancreas:	n/a	n/a
3	CTCF	chr11:55631531-55631534	GM10266	blood:	n/a	n/a
4	CTCF	chr11:55630679-55630739	Kidney_OC	kidney:	n/a	n/a
5	CTCF	chr11:55631536-55631570	GM10266	blood:	n/a	n/a
6	MAFF	chr11:55630332-55630469	HepG2	liver:	n/a	chr11:55630420-55630438
7	MAFK	chr11:55630343-55630543	HepG2	liver:	n/a	chr11:55630418-55630434 chr11:55630416-55630436 chr11:55630425-55630436
8	MAFK	chr11:55630298-55630463	IMR90	lung:	n/a	chr11:55630418-55630434 chr11:55630416-55630436 chr11:55630425-55630436

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPRYD5-1	chr11:55631408-55631812	NONHSAT021372

Variant related genes	Relation type
ENSG00000255204	TF binding region
ENSG00000255499	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546924632	chr11:55628761-55628762	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs182025925	chr11:55628768-55628769	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs373199022	chr11:55630298-55630299	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs527459133	chr11:55630321-55630322	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs566782454	chr11:55630341-55630342	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs185083356	chr11:55630364-55630365	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs189102341	chr11:55630399-55630400	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs547676086	chr11:55630400-55630401	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs112553089	chr11:55630415-55630416	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs185372139	chr11:55630422-55630423	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs556778210	chr11:55630425-55630426	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs112481829	chr11:55630442-55630443	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs113368551	chr11:55630464-55630465	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs111507977	chr11:55630480-55630481	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs11231350	chr11:55630487-55630488	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs558003578	chr11:55630506-55630507	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs572763500	chr11:55630537-55630538	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs113813558	chr11:55630694-55630695	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs562976767	chr11:55630725-55630726	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs2869023	chr11:55630737-55630738	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs528025886	chr11:55631434-55631435	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs549249032	chr11:55631436-55631437	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs376586653	chr11:55631477-55631478	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs188308371	chr11:55631489-55631490	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs576186283	chr11:55631491-55631492	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs534086395	chr11:55631496-55631497	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs550021849	chr11:55631522-55631523	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs554495502	chr11:55631546-55631547	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs180867003	chr11:55631561-55631562	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs577457258	chr11:55631575-55631576	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs371063885	chr11:55631598-55631599	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs566658842	chr11:55631630-55631631	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs534118282	chr11:55631631-55631632	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs11231356	chr11:55631659-55631660	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs61897477	chr11:55631701-55631702	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs112776923	chr11:55631716-55631717	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs562120915	chr11:55631722-55631723	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs577620924	chr11:55631723-55631724	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs544774159	chr11:55631742-55631743	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21990379	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	17142309	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Multiple myeloma	16616336	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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