Variant report

Variant	esv2459713
Chromosome Location	chr11:58429707-58437992
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	BCL3	chr11:58436143-58436372	GM12878	blood:	n/a	n/a
2	BCL3	chr11:58437259-58437685	GM12878	blood:	n/a	n/a
3	BCL3	chr11:58433922-58434413	GM12878	blood:	n/a	n/a
4	BCL3	chr11:58436076-58436354	GM12878	blood:	n/a	n/a
5	BCL3	chr11:58437317-58437572	GM12878	blood:	n/a	n/a
6	BCL3	chr11:58434941-58435401	GM12878	blood:	n/a	n/a
7	BCL3	chr11:58433838-58434397	GM12878	blood:	n/a	n/a
8	NFATC1	chr11:58434005-58434370	GM12878	blood:	n/a	n/a
9	PBX3	chr11:58433872-58434290	GM12878	blood:	n/a	n/a
10	PBX3	chr11:58437274-58437482	GM12878	blood:	n/a	n/a
11	PBX3	chr11:58436926-58437083	GM12878	blood:	n/a	n/a
12	PBX3	chr11:58435072-58435293	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:58437894-58437951	A549	lung:	n/a	n/a
14	POLR2A	chr11:58432093-58432140	ProgFib	skin:	n/a	n/a
15	POLR2A	chr11:58436689-58436692	MCF10A-Er-Src	breast:	n/a	n/a
16	TCF3	chr11:58437327-58437615	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:58343949..58346815-chr11:58430372..58432698,2	K562	blood:

Variant related genes	Relation type
ENSG00000265783	TF binding region
ENSG00000110031	chromatin interactions
ENSG00000255073	chromatin interactions
ENSG00000186660	chromatin interactions

Extended variants
information (count: 129 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572397982	chr11:58430407-58430408	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs542950123	chr11:58430463-58430464	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs560925729	chr11:58430475-58430476	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs531619090	chr11:58430496-58430497	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs543866918	chr11:58430529-58430530	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs7107509	chr11:58430542-58430543	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs565247238	chr11:58430548-58430549	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs532289222	chr11:58430594-58430595	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs10896814	chr11:58430699-58430700	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs553698334	chr11:58430729-58430730	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs571394328	chr11:58430732-58430733	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs565920716	chr11:58430750-58430751	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs576465742	chr11:58430794-58430795	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs202130171	chr11:58430799-58430800	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs529998524	chr11:58430805-58430806	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs536732308	chr11:58430817-58430818	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs376706059	chr11:58430834-58430835	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs7350490	chr11:58430874-58430875	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs569638864	chr11:58430883-58430884	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs536662436	chr11:58430893-58430894	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs560931493	chr11:58430904-58430905	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs142924668	chr11:58430908-58430909	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs151078355	chr11:58430916-58430917	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs527981981	chr11:58430917-58430918	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs541299441	chr11:58430923-58430924	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs534761846	chr11:58430928-58430929	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs573552093	chr11:58430938-58430939	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs554058715	chr11:58430942-58430943	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs572333362	chr11:58430949-58430950	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs140470995	chr11:58430953-58430954	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs183251137	chr11:58430986-58430987	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs554860745	chr11:58430993-58430994	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs546042579	chr11:58431018-58431019	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs201472203	chr11:58431075-58431076	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs145382532	chr11:58431076-58431077	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs199526241	chr11:58431077-58431078	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs543458028	chr11:58431083-58431084	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs566105770	chr11:58431114-58431115	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs565329856	chr11:58431152-58431153	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs532488871	chr11:58431163-58431164	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs188317680	chr11:58431184-58431185	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs559563947	chr11:58431187-58431188	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs529934822	chr11:58431195-58431196	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs142650957	chr11:58431201-58431202	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs79221940	chr11:58431205-58431206	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs528494756	chr11:58431209-58431210	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs12271331	chr11:58431215-58431216	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs570462586	chr11:58431229-58431230	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs192604209	chr11:58431239-58431240	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs552671643	chr11:58431262-58431263	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	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
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	21293372	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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