Variant report

Variant	esv3393540
Chromosome Location	chr11:59890029-59890378
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	chr11:59889345..59891976-chr11:59896394..59897980,2	K562	blood:
2	chr11:59880513..59883091-chr11:59889484..59891627,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191803702	chr11:59890065-59890066	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537797051	chr11:59890075-59890076	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558967290	chr11:59890080-59890081	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577404035	chr11:59890101-59890102	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534906094	chr11:59890109-59890110	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1303620	chr11:59890135-59890136	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs184093353	chr11:59890151-59890152	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201576358	chr11:59890155-59890156	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs34745273	chr11:59890167-59890168	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541881782	chr11:59890240-59890241	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138415918	chr11:59890257-59890258	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75153778	chr11:59890268-59890269	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76099876	chr11:59890269-59890270	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74858624	chr11:59890270-59890271	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575545411	chr11:59890289-59890290	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35971767	chr11:59890368-59890369	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
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
Acute lymphoblastic leukemia	21339820	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Lung adenocarcinoma	17086460	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59879400-59897600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:59882400-59892200	Weak transcription	Fetal Intestine Small	intestine
3	chr11:59884800-59892600	Weak transcription	HMEC	breast
4	chr11:59888400-59892000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr11:59888800-59891800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr11:59889000-59891600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr11:59889000-59891800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:59889000-59892800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:59889200-59890800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:59889200-59891600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr11:59889200-59891800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr11:59889200-59891800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr11:59889200-59891800	Weak transcription	Stomach Mucosa	stomach
14	chr11:59889200-59892000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:59889200-59892200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:59889200-59892400	Weak transcription	Ovary	ovary
17	chr11:59889200-59893000	Enhancers	K562	blood
18	chr11:59889200-59893400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr11:59889400-59891000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr11:59889800-59894000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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