Variant report

Variant	esv3461641
Chromosome Location	chr11:58253695-58254027
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540274128	chr11:58253717-58253718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562111144	chr11:58253739-58253740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4287352	chr11:58253765-58253766	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs544874723	chr11:58253767-58253768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76528942	chr11:58253769-58253770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375519989	chr11:58253779-58253780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551956278	chr11:58253803-58253804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560298631	chr11:58253892-58253893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527371569	chr11:58253914-58253915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147912649	chr11:58253931-58253932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117252428	chr11:58253999-58254000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116582924	chr11:58254015-58254016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550064186	chr11:58254026-58254027	Enhancers Weak transcription	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
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
Melanoma	17363583	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58252400-58265200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:58253200-58254400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:58253400-58254000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr11:58253400-58254000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:58253600-58253800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:58253600-58254000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr11:58253600-58254200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr11:58253600-58254200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr11:58253600-58254800	Enhancers	H9 Cell Line	embryonic stem cell
10	chr11:58253800-58254000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr11:58253800-58254200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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