Variant report

Variant	nsv8830
Chromosome Location	chr11:56624702-56627905
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 133 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575585890	chr11:56624735-56624736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574563029	chr11:56624748-56624749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11228820	chr11:56624766-56624767	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs138356841	chr11:56624825-56624826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181636835	chr11:56624878-56624879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539957623	chr11:56624885-56624886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554574	chr11:56624910-56624911	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs546452622	chr11:56624915-56624916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185487922	chr11:56624950-56624951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576487	chr11:56624971-56624972	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs573296658	chr11:56624974-56624975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189999470	chr11:56625042-56625043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565283586	chr11:56625047-56625048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182256927	chr11:56625058-56625059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370500538	chr11:56625174-56625175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551616873	chr11:56625234-56625235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566955327	chr11:56625318-56625319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534374414	chr11:56625369-56625370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142557992	chr11:56625375-56625376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186783506	chr11:56625393-56625394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531195033	chr11:56625398-56625399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551279385	chr11:56625405-56625406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139228048	chr11:56625410-56625411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575647313	chr11:56625429-56625430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546131108	chr11:56625479-56625480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561595722	chr11:56625618-56625619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149438329	chr11:56625625-56625626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572977032	chr11:56625666-56625667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143815616	chr11:56625669-56625670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73480469	chr11:56625728-56625729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530312962	chr11:56625729-56625730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546916507	chr11:56625757-56625758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78437428	chr11:56625760-56625761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2096581	chr11:56625775-56625776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538357670	chr11:56625786-56625787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562135282	chr11:56625787-56625788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372013796	chr11:56625800-56625801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190959754	chr11:56625828-56625829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568530823	chr11:56625843-56625844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184091206	chr11:56625857-56625858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527913511	chr11:56625872-56625873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537484968	chr11:56625892-56625893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554425131	chr11:56625894-56625895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549531685	chr11:56625921-56625922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567699524	chr11:56625996-56625997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538330344	chr11:56625997-56625998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189026257	chr11:56626011-56626012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11228821	chr11:56626017-56626018	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs539008693	chr11:56626038-56626039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192917568	chr11:56626039-56626040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Renal cell carcinoma	18194544	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Breast cancer	17142309	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56618800-56626600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:56623000-56629400	Weak transcription	Stomach Mucosa	stomach
3	chr11:56624600-56624800	Enhancers	HMEC	breast
4	chr11:56624600-56625200	Enhancers	A549	lung
5	chr11:56624600-56625400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:56625600-56626000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:56626600-56626800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:56626800-56634200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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