Variant report

Variant	esv6146
Chromosome Location	chr11:71861440-71862195
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	chr11:71849346..71852118-chr11:71862000..71864280,2	K562	blood:

Variant related genes	Relation type
ENSG00000110203	chromatin interactions

Extended variants
information (count: 27 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59684857	chr11:71861451-71861452	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs556738613	chr11:71861452-71861453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34914877	chr11:71861454-71861455	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs541921855	chr11:71861484-71861485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189329644	chr11:71861485-71861486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572121697	chr11:71861569-71861570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369370415	chr11:71861610-71861611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373176715	chr11:71861611-71861612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376299448	chr11:71861612-71861613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369470391	chr11:71861613-71861614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373583999	chr11:71861614-71861615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11235452	chr11:71861751-71861752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11235453	chr11:71861768-71861769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11235454	chr11:71861771-71861772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181796813	chr11:71861902-71861903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546095753	chr11:71861903-71861904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185147534	chr11:71861905-71861906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564210111	chr11:71861908-71861909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377486909	chr11:71861909-71861910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113845195	chr11:71861910-71861911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370242046	chr11:71861911-71861912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377131350	chr11:71861912-71861913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547147524	chr11:71862064-71862065	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs560752717	chr11:71862100-71862101	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs111513534	chr11:71862118-71862119	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs188298783	chr11:71862122-71862123	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs571155712	chr11:71862128-71862129	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71857000-71863600	Weak transcription	Placenta	Placenta
2	chr11:71857800-71862200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:71861000-71862000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:71861000-71862000	Weak transcription	NHEK	skin
5	chr11:71862000-71862600	Enhancers	K562	blood
6	chr11:71862000-71862600	Flanking Active TSS	NHEK	skin
7	chr11:71862000-71863600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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