Variant report

Variant	esv3371973
Chromosome Location	chr11:57030181-57030602
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112312550	chr11:57030202-57030203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569056279	chr11:57030235-57030236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11228973	chr11:57030244-57030245	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs551063018	chr11:57030285-57030286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2846042	chr11:57030293-57030294	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs151167586	chr11:57030354-57030355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550951364	chr11:57030364-57030365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140349904	chr11:57030410-57030411	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183411349	chr11:57030497-57030498	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533546204	chr11:57030554-57030555	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189035466	chr11:57030590-57030591	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373292739	chr11:57030598-57030599	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374680035	chr11:57030599-57030600	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77441667	chr11:57030600-57030601	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564120662	chr11:57030602-57030603	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57029000-57030600	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr11:57029200-57030400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr11:57029200-57030800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:57029400-57031600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr11:57029400-57031600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr11:57029800-57030200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:57029800-57030800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr11:57030000-57030200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:57030200-57030400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr11:57030200-57030600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr11:57030400-57030600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr11:57030400-57030800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr11:57030400-57031000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr11:57030400-57031400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr11:57030400-57031600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr11:57030600-57030800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr11:57030600-57031000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:57030600-57031200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr11:57030600-57036800	Weak transcription	H9 Cell Line	embryonic stem cell

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