Variant report

Variant	esv2533745
Chromosome Location	chr11:55726295-55727796
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	KAP1	chr11:55726829-55727287	K562	blood:	n/a	chr11:55727124-55727132
2	POLR2A	chr11:55726363-55726563	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:55726290..55727933-chr11:55735253..55737882,2	K562	blood:

Variant related genes	Relation type
OR10AK1P	TF binding region
ENSG00000174970	chromatin interactions

Extended variants
information (count: 69 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114514820	chr11:55726311-55726312	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs538940419	chr11:55726320-55726321	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs553816137	chr11:55726325-55726326	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs149260644	chr11:55726326-55726327	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs542308672	chr11:55726339-55726340	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs17599457	chr11:55726397-55726398	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs117605747	chr11:55726402-55726403	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs184793235	chr11:55726517-55726518	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs147522694	chr11:55726529-55726530	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs368734499	chr11:55726536-55726537	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs61895181	chr11:55726563-55726564	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs547949108	chr11:55726577-55726578	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs574686678	chr11:55726593-55726594	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs556616685	chr11:55726604-55726605	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs559842662	chr11:55726608-55726609	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs17599471	chr11:55726609-55726610	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs189302279	chr11:55726614-55726615	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs560394132	chr11:55726663-55726664	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs75473254	chr11:55726738-55726739	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs180937978	chr11:55726790-55726791	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs17527401	chr11:55726804-55726805	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs570942870	chr11:55726826-55726827	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs75430659	chr11:55726917-55726918	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs553932551	chr11:55726953-55726954	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs565878106	chr11:55726973-55726974	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs186150638	chr11:55727023-55727024	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs554163504	chr11:55727024-55727025	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs575596832	chr11:55727036-55727037	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs542995396	chr11:55727066-55727067	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs558256654	chr11:55727083-55727084	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs576868343	chr11:55727093-55727094	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs78048424	chr11:55727167-55727168	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs189439842	chr11:55727192-55727193	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs530330389	chr11:55727198-55727199	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs542513899	chr11:55727219-55727220	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs568296099	chr11:55727238-55727239	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs181486544	chr11:55727282-55727283	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs563690467	chr11:55727309-55727310	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs201340697	chr11:55727314-55727315	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs61895182	chr11:55727348-55727349	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs61895183	chr11:55727351-55727352	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs570775926	chr11:55727363-55727364	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs186028008	chr11:55727371-55727372	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs191168159	chr11:55727385-55727386	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs367809898	chr11:55727394-55727395	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs536154670	chr11:55727395-55727396	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs183073935	chr11:55727412-55727413	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs146961582	chr11:55727436-55727437	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs536694233	chr11:55727456-55727457	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs569231578	chr11:55727513-55727514	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:48)

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
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
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
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

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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