Variant report

Variant	nsv8829
Chromosome Location	chr11:55675378-55678413
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:55675526-55675708	A549	lung:	n/a	n/a
2	CTCF	chr11:55675625-55675722	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr11:55675511-55675702	A549	lung:	n/a	n/a
4	CTCF	chr11:55675441-55675789	A549	lung:	n/a	n/a
5	CTCF	chr11:55675625-55675716	NHEK	skin:	n/a	n/a
6	CTCF	chr11:55675628-55675751	MCF-7	breast:	n/a	n/a
7	CTCF	chr11:55675539-55675697	K562	blood:	n/a	n/a
8	CTCF	chr11:55675661-55675683	GM19239	blood:	n/a	n/a
9	CTCF	chr11:55675538-55675738	K562	blood:	n/a	n/a
10	CTCF	chr11:55675622-55675738	MCF-7	breast:	n/a	n/a
11	CTCF	chr11:55675545-55675701	K562	blood:	n/a	n/a
12	CTCF	chr11:55675564-55675788	A549	lung:	n/a	n/a
13	CTCF	chr11:55675628-55675696	Gliobla	brain:	n/a	n/a
14	CTCF	chr11:55675628-55675753	K562	blood:	n/a	n/a
15	CTCF	chr11:55675625-55675741	HUVEC	blood vessel:	n/a	n/a
16	FOSL2	chr11:55675520-55675794	HepG2	liver:	n/a	n/a
17	GATA2	chr11:55675504-55675784	K562	blood:	n/a	n/a
18	JUND	chr11:55675552-55675673	HepG2	liver:	n/a	n/a
19	JUND	chr11:55675507-55675696	HepG2	liver:	n/a	n/a
20	JUND	chr11:55677099-55677432	HepG2	liver:	n/a	chr11:55677259-55677270
21	NR2F2	chr11:55675492-55675698	K562	blood:	n/a	n/a
22	NR3C1	chr11:55675550-55675653	A549	lung:	n/a	n/a
23	POLR2A	chr11:55675557-55675664	A549	lung:	n/a	n/a
24	POLR2A	chr11:55675585-55675662	HepG2	liver:	n/a	n/a
25	POLR2A	chr11:55675576-55675656	A549	lung:	n/a	n/a
26	SIN3AK20	chr11:55675562-55675672	HepG2	liver:	n/a	n/a
27	TCF12	chr11:55675533-55675693	GM12878	blood:	n/a	n/a

No data

Variant related genes	Relation type
OR5W1P	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151272005	chr11:55675458-55675459	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs1876748	chr11:55675470-55675471	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs2512735	chr11:55675474-55675475	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs540547527	chr11:55675483-55675484	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs527674619	chr11:55675514-55675515	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs564818140	chr11:55675518-55675519	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs17595801	chr11:55675548-55675549	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs567742638	chr11:55675560-55675561	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs112243350	chr11:55675595-55675596	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs372395012	chr11:55675601-55675602	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs56116804	chr11:55675629-55675630	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs569081156	chr11:55675677-55675678	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs372964912	chr11:55675684-55675685	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs539674500	chr11:55675686-55675687	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs191141390	chr11:55675691-55675692	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs370423321	chr11:55675694-55675695	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs117317311	chr11:55675702-55675703	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs17511051	chr11:55675728-55675729	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs555077567	chr11:55675756-55675757	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs573645676	chr11:55675761-55675762	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs544500380	chr11:55675772-55675773	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs556670476	chr11:55675777-55675778	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:45)

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

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

No data

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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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