Variant report

Variant	esv3395301
Chromosome Location	chr11:86940838-86941257
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	chr11:86936889..86939702-chr11:86940206..86942335,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 74 )

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	rs140869965	chr11:86940838-86940839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs74613102	chr11:86940863-86940864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182761053	chr11:86940877-86940878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185507500	chr11:86940907-86940908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139267727	chr11:86940918-86940919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576162794	chr11:86940969-86940970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79576760	chr11:86941004-86941005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558500833	chr11:86941016-86941017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150178671	chr11:86941027-86941028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146663475	chr11:86941058-86941059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4547121	chr11:86941102-86941103	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs529836977	chr11:86941156-86941157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs301579	chr11:86941170-86941171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs577276967	chr11:86941218-86941219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563152075	chr11:86941225-86941226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140214444	chr11:86941247-86941248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	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
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Breast cancer	17133270	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86915400-86942000	Weak transcription	HepG2	liver
2	chr11:86929600-86942000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:86933000-86942800	Weak transcription	Primary B cells from cord blood	blood
4	chr11:86934000-86943600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:86935800-86943000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:86936800-86949000	Weak transcription	Small Intestine	intestine

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