Variant report

Variant	esv3476441
Chromosome Location	chr11:57774108-57775087
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527756544	chr11:57774129-57774130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139586390	chr11:57774165-57774166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12361813	chr11:57774170-57774171	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs398115417	chr11:57774172-57774173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540207609	chr11:57774210-57774211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567433423	chr11:57774250-57774251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146199893	chr11:57774319-57774320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75661798	chr11:57774431-57774432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187749531	chr11:57774456-57774457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571840180	chr11:57774462-57774463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12099136	chr11:57774473-57774474	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs11608016	chr11:57774485-57774486	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs7125096	chr11:57774500-57774501	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs138037919	chr11:57774547-57774548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376172941	chr11:57774548-57774549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7105331	chr11:57774549-57774550	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs12099045	chr11:57774557-57774558	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs7125209	chr11:57774576-57774577	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs114156568	chr11:57774579-57774580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577045794	chr11:57774583-57774584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142554846	chr11:57774587-57774588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs80181255	chr11:57774668-57774669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559407170	chr11:57774675-57774676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192710393	chr11:57774722-57774723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529802154	chr11:57774750-57774751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541630095	chr11:57774761-57774762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144195680	chr11:57774826-57774827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4423203	chr11:57774847-57774848	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs61905344	chr11:57774860-57774861	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs571644455	chr11:57774865-57774866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61905345	chr11:57774900-57774901	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs548035836	chr11:57774908-57774909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566385293	chr11:57774962-57774963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185673569	chr11:57775005-57775006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57771000-57774200	Weak transcription	Left Ventricle	heart
2	chr11:57772400-57774200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr11:57772600-57779000	Weak transcription	HepG2	liver
4	chr11:57772800-57774200	Weak transcription	Right Atrium	heart
5	chr11:57773000-57774800	Enhancers	HUVEC	blood vessel
6	chr11:57773200-57774200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr11:57773200-57774400	Weak transcription	Psoas Muscle	Psoas
8	chr11:57773800-57775200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:57774200-57774600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr11:57774200-57774600	Enhancers	Left Ventricle	heart
11	chr11:57774200-57774800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:57774200-57774800	Enhancers	Esophagus	oesophagus
13	chr11:57774200-57774800	Enhancers	Right Atrium	heart
14	chr11:57774200-57774800	Enhancers	Right Ventricle	heart
15	chr11:57774200-57775000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:57774400-57774800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:57774400-57774800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:57774400-57774800	Enhancers	Psoas Muscle	Psoas
19	chr11:57774600-57774800	Enhancers	Adipose Nuclei	Adipose

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