Variant report

Variant	esv3410346
Chromosome Location	chr11:86906976-86907530
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	chr11:86900182..86903492-chr11:86905711..86910083,4	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76207912	chr11:86907001-86907002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548418205	chr11:86907051-86907052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568273543	chr11:86907063-86907064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537241406	chr11:86907087-86907088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144996113	chr11:86907092-86907093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575604844	chr11:86907107-86907108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556786365	chr11:86907137-86907138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576905343	chr11:86907223-86907224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537033276	chr11:86907231-86907232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539581199	chr11:86907234-86907235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187613955	chr11:86907258-86907259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141467742	chr11:86907318-86907319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554341440	chr11:86907359-86907360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558407891	chr11:86907382-86907383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562393487	chr11:86907422-86907423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs67109296	chr11:86907429-86907430	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs539900671	chr11:86907473-86907474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150862323	chr11:86907503-86907504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86882000-86928000	Weak transcription	Left Ventricle	heart
2	chr11:86887600-86909400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:86890200-86919000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:86891000-86914200	Weak transcription	HepG2	liver
5	chr11:86891800-86929400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:86892800-86915000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr11:86900000-86914200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:86905600-86912400	Weak transcription	K562	blood
9	chr11:86906000-86931000	Weak transcription	Fetal Lung	lung
10	chr11:86906800-86910200	Weak transcription	Ovary	ovary

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