Variant report

Variant	nsv983025
Chromosome Location	chr11:57341720-57344530
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	chr11:57340284..57342621-chr11:57408042..57409998,2	K562	blood:

Variant related genes	Relation type
ENSG00000208009	chromatin interactions

Extended variants
information (count: 85 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370441743	chr11:57341783-57341784	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs369140138	chr11:57341857-57341858	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs79417015	chr11:57341859-57341860	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs555963164	chr11:57341862-57341863	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs544023168	chr11:57341869-57341870	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs563753490	chr11:57341883-57341884	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs567872633	chr11:57341965-57341966	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs183703968	chr11:57341981-57341982	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs7943095	chr11:57342060-57342061	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs191877520	chr11:57342090-57342091	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs368382449	chr11:57342253-57342254	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs547990460	chr11:57342254-57342255	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs34739987	chr11:57342260-57342261	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs183960616	chr11:57342264-57342265	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs117502998	chr11:57342351-57342352	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs111362531	chr11:57342401-57342402	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs2729361	chr11:57342402-57342403	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs145048630	chr11:57342447-57342448	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs7103079	chr11:57342514-57342515	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs529644551	chr11:57342538-57342539	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs543699236	chr11:57342596-57342597	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs372274306	chr11:57342629-57342630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146857470	chr11:57342666-57342667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533344994	chr11:57342670-57342671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541798342	chr11:57342673-57342674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561481214	chr11:57342675-57342676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11339568	chr11:57342715-57342716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148974744	chr11:57342731-57342732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527313928	chr11:57342776-57342777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115403761	chr11:57342780-57342781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527745436	chr11:57342809-57342810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549600802	chr11:57342861-57342862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200071455	chr11:57342868-57342869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567844458	chr11:57342899-57342900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2467330	chr11:57342952-57342953	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs188298320	chr11:57343116-57343117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571180828	chr11:57343146-57343147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538267199	chr11:57343153-57343154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553319599	chr11:57343202-57343203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71484455	chr11:57343219-57343220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571819239	chr11:57343221-57343222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549033344	chr11:57343227-57343228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191197425	chr11:57343271-57343272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532941032	chr11:57343339-57343340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554390682	chr11:57343365-57343366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10792107	chr11:57343403-57343404	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs543386673	chr11:57343461-57343462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565166236	chr11:57343463-57343464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577028035	chr11:57343512-57343513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35433974	chr11:57343534-57343535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Breast cancer	17142309	CNVD
Breast cancer	21509527	CNVD
Angio-oedema	21790735	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57340800-57341800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:57341000-57342000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:57341000-57342200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr11:57341200-57342000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:57341200-57342400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr11:57341400-57341800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:57341400-57342000	Enhancers	H9 Cell Line	embryonic stem cell
8	chr11:57341400-57342000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr11:57341400-57342200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr11:57341400-57342200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:57341400-57342200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr11:57341400-57342400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr11:57341400-57342400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr11:57341400-57342400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr11:57341600-57342200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr11:57341800-57344200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:57341800-57351800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:57344200-57344600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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