Variant report

Variant	esv3432079
Chromosome Location	chr11:85916728-85917251
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85914104..85917156-chr11:85928953..85931838,4	K562	blood:
2	chr11:85779315..85781059-chr11:85917229..85919537,2	K562	blood:
3	chr11:85914261..85916846-chr11:85923142..85927107,3	K562	blood:

Variant related genes	Relation type
ENSG00000073921	chromatin interactions

Extended variants
information (count: 31 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146982664	chr11:85916783-85916784	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs148034914	chr11:85916789-85916790	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs141768945	chr11:85916792-85916793	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs150172835	chr11:85916794-85916795	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs540528992	chr11:85916809-85916810	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs560287403	chr11:85916821-85916822	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs529452008	chr11:85916844-85916845	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs188173033	chr11:85916845-85916846	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs569444118	chr11:85916854-85916855	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs532057624	chr11:85916862-85916863	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs550287909	chr11:85916863-85916864	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs575118906	chr11:85916887-85916888	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs367736073	chr11:85916888-85916889	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs78065683	chr11:85916933-85916934	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs192873221	chr11:85916950-85916951	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs138664151	chr11:85916955-85916956	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs149241223	chr11:85916964-85916965	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs35079987	chr11:85916965-85916966	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs116428650	chr11:85916984-85916985	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs555583294	chr11:85916990-85916991	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs562444468	chr11:85917011-85917012	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs571770921	chr11:85917038-85917039	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs146195441	chr11:85917044-85917045	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs139198938	chr11:85917053-85917054	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs557698017	chr11:85917070-85917071	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs577638929	chr11:85917104-85917105	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs142463132	chr11:85917129-85917130	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs560225039	chr11:85917133-85917134	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs10501612	chr11:85917139-85917140	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs77442320	chr11:85917199-85917200	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs563128799	chr11:85917203-85917204	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
Obesity	20622171	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Breast cancer	17133270	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85908600-85920000	Weak transcription	Small Intestine	intestine
2	chr11:85914000-85916800	Weak transcription	Fetal Muscle Leg	muscle
3	chr11:85914000-85918200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr11:85914000-85918600	Enhancers	Placenta	Placenta
5	chr11:85914000-85920800	Weak transcription	Ovary	ovary
6	chr11:85914000-85926200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:85914200-85917400	Weak transcription	Fetal Heart	heart
8	chr11:85914200-85917600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr11:85914400-85917000	Weak transcription	Brain Substantia Nigra	brain
10	chr11:85914400-85917000	Weak transcription	Fetal Lung	lung
11	chr11:85914400-85917600	Enhancers	Primary B cells from cord blood	blood
12	chr11:85914600-85919200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:85914800-85916800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:85914800-85919400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr11:85915000-85919400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:85915000-85920000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr11:85915600-85917600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr11:85916400-85917200	Enhancers	Hela-S3	cervix
19	chr11:85916400-85917800	Enhancers	HepG2	liver
20	chr11:85916600-85917400	Enhancers	Adipose Nuclei	Adipose
21	chr11:85916800-85917600	Enhancers	Fetal Muscle Leg	muscle
22	chr11:85917000-85917200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:85917000-85917200	Enhancers	Brain Substantia Nigra	brain
24	chr11:85917000-85917600	Enhancers	Fetal Lung	lung
25	chr11:85917200-85928800	Weak transcription	Hela-S3	cervix

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