Variant report

Variant	esv3445269
Chromosome Location	chr11:16011562-16012077
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	chr11:16006435..16009165-chr11:16010685..16012252,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552162654	chr11:16011565-16011566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs117786000	chr11:16011574-16011575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183089185	chr11:16011592-16011593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147074596	chr11:16011637-16011638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79194366	chr11:16011647-16011648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10766291	chr11:16011729-16011730	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs547864010	chr11:16011732-16011733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556381800	chr11:16011734-16011735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187368223	chr11:16011763-16011764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138273746	chr11:16011843-16011844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10741687	chr11:16012057-16012058	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs58520714	chr11:16012069-16012070	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Cancer	24489367	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Neuroblastoma	19435921	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21785460	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:15990400-16011600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:15993000-16012800	Weak transcription	Right Ventricle	heart
3	chr11:15998200-16011600	Weak transcription	Aorta	Aorta
4	chr11:15999400-16022800	Weak transcription	K562	blood
5	chr11:16004800-16024600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:16007800-16023000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr11:16008000-16022800	Weak transcription	Fetal Intestine Small	intestine
8	chr11:16008800-16013800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:16010200-16011600	Enhancers	Ovary	ovary
10	chr11:16010200-16012000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr11:16010600-16015000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr11:16010800-16012800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr11:16010800-16015000	Weak transcription	Psoas Muscle	Psoas
14	chr11:16010800-16021600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:16010800-16022800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:16010800-16022800	Weak transcription	Fetal Intestine Large	intestine
17	chr11:16011000-16015000	Weak transcription	Fetal Muscle Leg	muscle
18	chr11:16011000-16019200	Weak transcription	Right Atrium	heart
19	chr11:16011000-16033800	Weak transcription	Left Ventricle	heart
20	chr11:16011200-16011800	Enhancers	Fetal Lung	lung
21	chr11:16011200-16021400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:16011400-16023000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr11:16011800-16013800	Enhancers	Stomach Mucosa	stomach
24	chr11:16012000-16013600	Enhancers	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links