Variant report

Variant	esv3447331
Chromosome Location	chr11:121632407-121632980
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	chr11:121632571..121635461-chr11:121638427..121640406,2	K562	blood:
2	chr11:121632571..121635609-chr11:121638427..121640448,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534767502	chr11:121632429-121632430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185105408	chr11:121632432-121632433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7106615	chr11:121632466-121632467	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs536314068	chr11:121632507-121632508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554656152	chr11:121632523-121632524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573056459	chr11:121632586-121632587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190411932	chr11:121632696-121632697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146100930	chr11:121632697-121632698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs193216893	chr11:121632704-121632705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184425865	chr11:121632708-121632709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7106767	chr11:121632740-121632741	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs574495035	chr11:121632750-121632751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541899122	chr11:121632786-121632787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7107004	chr11:121632810-121632811	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs11218398	chr11:121632854-121632855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140066189	chr11:121632867-121632868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529347462	chr11:121632897-121632898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534584035	chr11:121632928-121632929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114789999	chr11:121632935-121632936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531480732	chr11:121632937-121632938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550066583	chr11:121632967-121632968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	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
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian cancer	21720365	CNVD
Neuroblastoma	17327916	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Renal cell carcinoma	21668985	CNVD
Developmental delay	21147756	CNVD
Squamous cell cancer	20885788	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Hepatocellular carcinoma	16750200	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Barrett''s syndrome	19417022	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21385341	CNVD
Multiple myeloma	16461302	CNVD
Burkitt''s lymphoma	18698080	CNVD
Prostate cancer	23792589	CNVD
Effusion lymphoma	18079361	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Oral squamous cell carcinoma	17134496	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121625600-121633600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:121625800-121632800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:121626200-121633800	Weak transcription	Fetal Kidney	kidney
4	chr11:121626400-121633200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr11:121627000-121633200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:121627200-121633200	Weak transcription	Brain Hippocampus Middle	brain
7	chr11:121627200-121633400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr11:121628800-121633200	Weak transcription	Brain Substantia Nigra	brain
9	chr11:121628800-121636200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:121629200-121633400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr11:121632000-121633400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:121632000-121633600	Enhancers	Brain Anterior Caudate	brain
13	chr11:121632000-121634800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr11:121632000-121634800	Enhancers	Fetal Stomach	stomach
15	chr11:121632200-121633400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:121632200-121633400	Enhancers	Fetal Brain Female	brain
17	chr11:121632600-121633400	Enhancers	Brain Germinal Matrix	brain
18	chr11:121632600-121634000	Enhancers	Fetal Muscle Trunk	muscle
19	chr11:121632600-121634000	Enhancers	Fetal Muscle Leg	muscle
20	chr11:121632800-121633400	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr11:121632800-121634200	Enhancers	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links