Variant report

Variant	esv1804940
Chromosome Location	chr11:58459236-58461014
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 61 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs484872	chr11:58459236-58459237	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs147410418	chr11:58459239-58459240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549103336	chr11:58459269-58459270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567416464	chr11:58459286-58459287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111438288	chr11:58459295-58459296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs117709460	chr11:58459298-58459299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200942627	chr11:58459302-58459303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557309130	chr11:58459311-58459312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371077460	chr11:58459319-58459320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368734316	chr11:58459325-58459326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569515083	chr11:58459370-58459371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539768761	chr11:58459371-58459372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114127617	chr11:58459412-58459413	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs187828376	chr11:58459457-58459458	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs540276052	chr11:58459478-58459479	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs139135363	chr11:58459528-58459529	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs149966257	chr11:58459542-58459543	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs590157	chr11:58459548-58459549	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs544372288	chr11:58459551-58459552	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs562563416	chr11:58459570-58459571	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs533220088	chr11:58459658-58459659	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs545331692	chr11:58459711-58459712	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs560143411	chr11:58459719-58459720	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs527280947	chr11:58459807-58459808	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs553387227	chr11:58459849-58459850	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs190631139	chr11:58459859-58459860	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs531337685	chr11:58459860-58459861	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs573498019	chr11:58459870-58459871	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs569358216	chr11:58459903-58459904	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs591628	chr11:58459924-58459925	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs572893874	chr11:58459945-58459946	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs145079490	chr11:58459974-58459975	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs547654	chr11:58459989-58459990	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs533916251	chr11:58460006-58460007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs367555987	chr11:58460018-58460019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555368485	chr11:58460034-58460035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566084	chr11:58460073-58460074	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs182873575	chr11:58460074-58460075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187778271	chr11:58460108-58460109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566349834	chr11:58460147-58460148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs79878290	chr11:58460182-58460183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192895958	chr11:58460185-58460186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77913936	chr11:58460187-58460188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184295138	chr11:58460248-58460249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572406689	chr11:58460251-58460252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542624781	chr11:58460303-58460304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536673185	chr11:58460310-58460311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs17152835	chr11:58460388-58460389	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs551749432	chr11:58460409-58460410	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs375902401	chr11:58460457-58460458	Enhancers Flanking Active TSS	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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58456400-58459400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:58457200-58461600	Enhancers	Primary hematopoietic stem cells	blood
3	chr11:58457800-58461200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr11:58458400-58459600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr11:58459200-58459800	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr11:58459400-58460000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:58459600-58460000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:58460000-58460400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:58460000-58462000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:58460400-58460800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:58460800-58462200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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