Variant report

Variant	nsv526434
Chromosome Location	chr11:36320195-36320992
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	chr11:36319061..36322401-chr11:36325495..36327520,3	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10836529	chr11:36320195-36320196	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539155773	chr11:36320218-36320219	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs114436688	chr11:36320249-36320250	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs4756306	chr11:36320261-36320262	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs541644511	chr11:36320266-36320267	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs145183989	chr11:36320332-36320333	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs575249522	chr11:36320356-36320357	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs543759523	chr11:36320381-36320382	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs190607855	chr11:36320383-36320384	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs531998613	chr11:36320399-36320400	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs76584375	chr11:36320401-36320402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10836530	chr11:36320468-36320469	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs192925503	chr11:36320470-36320471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546203097	chr11:36320497-36320498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547991307	chr11:36320517-36320518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185107156	chr11:36320548-36320549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10836531	chr11:36320554-36320555	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs539744845	chr11:36320569-36320570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113735088	chr11:36320590-36320591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189681100	chr11:36320606-36320607	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs558474192	chr11:36320619-36320620	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs369636802	chr11:36320649-36320650	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs570690072	chr11:36320665-36320666	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs35619663	chr11:36320693-36320694	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs3081328	chr11:36320741-36320742	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs537683765	chr11:36320742-36320743	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs376866586	chr11:36320774-36320775	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs11033540	chr11:36320780-36320781	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs566469354	chr11:36320880-36320881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566185537	chr11:36320925-36320926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143299842	chr11:36320951-36320952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79369022	chr11:36320965-36320966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574199659	chr11:36320970-36320971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552944036	chr11:36320974-36320975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1562327	chr11:36320992-36320993	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36311400-36322600	Weak transcription	Spleen	Spleen
2	chr11:36311400-36331400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:36311600-36325800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr11:36311800-36321800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr11:36314200-36321200	Weak transcription	Fetal Muscle Leg	muscle
6	chr11:36316400-36320400	Enhancers	Adipose Nuclei	Adipose
7	chr11:36317600-36320600	Enhancers	Fetal Intestine Small	intestine
8	chr11:36317600-36320800	Enhancers	Fetal Intestine Large	intestine
9	chr11:36318000-36321800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:36318200-36322400	Weak transcription	Placenta	Placenta
11	chr11:36318800-36321800	Weak transcription	Fetal Lung	lung
12	chr11:36319000-36321000	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr11:36319200-36331800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:36319400-36321000	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr11:36319400-36321600	Weak transcription	Colonic Mucosa	Colon
16	chr11:36319600-36320600	Enhancers	Brain Cingulate Gyrus	brain
17	chr11:36319600-36321800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:36319600-36321800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr11:36319600-36322000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr11:36319600-36323400	Enhancers	Brain Angular Gyrus	brain
21	chr11:36319800-36320200	Enhancers	Brain Hippocampus Middle	brain
22	chr11:36319800-36320800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr11:36319800-36321800	Weak transcription	Brain Anterior Caudate	brain
24	chr11:36319800-36321800	Weak transcription	Small Intestine	intestine
25	chr11:36319800-36321800	Weak transcription	Hela-S3	cervix
26	chr11:36320000-36323200	Enhancers	Brain Substantia Nigra	brain
27	chr11:36320200-36320400	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr11:36320400-36321600	Weak transcription	Adipose Nuclei	Adipose
29	chr11:36320400-36322000	Enhancers	Brain Hippocampus Middle	brain
30	chr11:36320600-36320800	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr11:36320600-36322200	Weak transcription	Fetal Intestine Small	intestine
32	chr11:36320800-36321000	Enhancers	Brain Cingulate Gyrus	brain
33	chr11:36320800-36321800	Weak transcription	Fetal Intestine Large	intestine
34	chr11:36320800-36323000	Enhancers	Brain Inferior Temporal Lobe	brain

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