Variant report

Variant	esv3347454
Chromosome Location	chr11:57143569-57144275
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	chr11:57135662..57138224-chr11:57141484..57143706,3	K562	blood:
2	chr11:57143729..57146654-chr11:57150520..57152214,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185149680	chr11:57143582-57143583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189567734	chr11:57143585-57143586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148539989	chr11:57143639-57143640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184897084	chr11:57143660-57143661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs72923935	chr11:57143665-57143666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532678189	chr11:57143670-57143671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541160874	chr11:57143681-57143682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189177193	chr11:57143700-57143701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs111542395	chr11:57143703-57143704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs201917187	chr11:57143743-57143744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181544589	chr11:57143770-57143771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184231582	chr11:57143774-57143775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189669372	chr11:57143787-57143788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111218750	chr11:57143807-57143808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183906936	chr11:57143819-57143820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200901154	chr11:57143827-57143828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs62638917	chr11:57143835-57143836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201902945	chr11:57143842-57143843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111218886	chr11:57143853-57143854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111627911	chr11:57143878-57143879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201113876	chr11:57143894-57143895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12362538	chr11:57143897-57143898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186252814	chr11:57143899-57143900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113939101	chr11:57143907-57143908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200498222	chr11:57143946-57143947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191753508	chr11:57143953-57143954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190774129	chr11:57143966-57143967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376133908	chr11:57143975-57143976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs367944920	chr11:57143979-57143980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371495711	chr11:57143980-57143981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555598250	chr11:57143997-57143998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201811726	chr11:57143998-57143999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369954721	chr11:57144025-57144026	Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs183605871	chr11:57144036-57144037	Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs201066847	chr11:57144049-57144050	Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs530533195	chr11:57144072-57144073	Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs552244460	chr11:57144081-57144082	Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs570351535	chr11:57144097-57144098	Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs534745475	chr11:57144112-57144113	Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs552778269	chr11:57144115-57144116	Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs568875341	chr11:57144119-57144120	Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs568260759	chr11:57144136-57144137	Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs1867126	chr11:57144152-57144153	Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs556839649	chr11:57144195-57144196	Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	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
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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	17142309	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57138800-57144200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr11:57142600-57143600	Enhancers	A549	lung
3	chr11:57142800-57143600	Enhancers	Fetal Muscle Leg	muscle
4	chr11:57142800-57143800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr11:57142800-57144400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:57143000-57143600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr11:57143200-57144200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:57143600-57144000	Weak transcription	Fetal Muscle Leg	muscle
9	chr11:57143600-57144600	Weak transcription	A549	lung
10	chr11:57144000-57144400	Active TSS	H9 Cell Line	embryonic stem cell
11	chr11:57144000-57144400	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr11:57144000-57144400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:57144200-57144400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr11:57144200-57144400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:57144200-57144400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr11:57144200-57144400	Enhancers	Fetal Muscle Leg	muscle
17	chr11:57144200-57144400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
18	chr11:57144200-57144600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr11:57144200-57144800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:57144200-57145200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:57144200-57146200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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