Variant report

Variant	esv2528872
Chromosome Location	chr11:58457527-58462806
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	NRF1	chr11:58459077-58459080	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:58459138-58459632	HL-60	blood:	n/a	n/a
3	POLR2A	chr11:58461923-58462057	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:58459202-58459555	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:58455564..58457856-chr11:58460321..58462093,2	K562	blood:
2	chr11:58455564..58457856-chr11:58460321..58462093,2	K562	blood:

Variant related genes	Relation type
ENSG00000197254	TF binding region

Extended variants
information (count: 174 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:174 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141624759	chr11:58457532-58457533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528269194	chr11:58457563-58457564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574040493	chr11:58457587-58457588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546433236	chr11:58457595-58457596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147179044	chr11:58457599-58457600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543356937	chr11:58457632-58457633	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560058815	chr11:58457638-58457639	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535379853	chr11:58457662-58457663	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550269913	chr11:58457684-58457685	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369444324	chr11:58457730-58457731	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376099922	chr11:58457752-58457753	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs72925717	chr11:58457753-58457754	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557829775	chr11:58457772-58457773	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545306794	chr11:58457783-58457784	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117864087	chr11:58457789-58457790	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs17152811	chr11:58457808-58457809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181450643	chr11:58457824-58457825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372817855	chr11:58457825-58457826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575158179	chr11:58457843-58457844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542525298	chr11:58457862-58457863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185820671	chr11:58457970-58457971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74979140	chr11:58458142-58458143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575599392	chr11:58458183-58458184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112474030	chr11:58458223-58458224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558385971	chr11:58458326-58458327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566939674	chr11:58458354-58458355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190622285	chr11:58458382-58458383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112039560	chr11:58458426-58458427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116062340	chr11:58458498-58458499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370383945	chr11:58458524-58458525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529108435	chr11:58458525-58458526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544184716	chr11:58458569-58458570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550854137	chr11:58458586-58458587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569101724	chr11:58458598-58458599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs74319416	chr11:58458630-58458631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551122753	chr11:58458715-58458716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566550780	chr11:58458719-58458720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533895399	chr11:58458727-58458728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553571186	chr11:58458776-58458777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140406238	chr11:58458780-58458781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530158437	chr11:58458813-58458814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369814501	chr11:58458832-58458833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535728494	chr11:58458850-58458851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376244474	chr11:58458891-58458892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557633603	chr11:58458933-58458934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116499686	chr11:58458936-58458937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546168499	chr11:58458990-58458991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs59956190	chr11:58458998-58458999	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs116330748	chr11:58459001-58459002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185498344	chr11:58459006-58459007	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58455200-58458400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr11:58455800-58457600	Enhancers	HMEC	breast
3	chr11:58456000-58457600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:58456000-58457600	Enhancers	NHEK	skin
5	chr11:58456200-58457800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:58456400-58459400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:58457200-58461600	Enhancers	Primary hematopoietic stem cells	blood
8	chr11:58457400-58457600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr11:58457600-58457800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr11:58457800-58461200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr11:58458400-58459600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:58459200-58459800	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr11:58459400-58460000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:58459600-58460000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:58460000-58460400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:58460000-58462000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:58460400-58460800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:58460800-58462200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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