Variant report

Variant	nsv983043
Chromosome Location	chr11:73386105-73389105
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:11)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73385994..73387956-chr11:73388947..73391693,2	K562	blood:
2	chr11:73385994..73387956-chr11:73388947..73391693,2	K562	blood:

No data

(count:11 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	RAB6A	hsa-miR-186-5p	chr11:73386852-73386873
2	RAB6A	hsa-miR-186-5p	chr11:73387560-73387581
3	RAB6A	hsa-miR-324-5p	chr11:73387045-73387070
4	RAB6A	hsa-miR-21-5p	chr11:73387380-73387400
5	RAB6A	hsa-miR-21-5p	chr11:73387580-73387601
6	RAB6A	hsa-miR-186-5p	chr11:73386926-73386919
7	RAB6A	hsa-miR-186-5p	chr11:73386920-73386943
8	RAB6A	hsa-miR-155-5p	chr11:73387288-73387309
9	RAB6A	hsa-miR-155-5p	chr11:73387294-73387288
10	RAB6A	hsa-miR-186-5p	chr11:73387542-73387563
11	RAB6A	hsa-miR-21-5p	chr11:73387585-73387579

Extended variants
information (count: 103 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569395519	chr11:73386125-73386126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149046003	chr11:73386156-73386157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116579100	chr11:73386230-73386231	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568723897	chr11:73386234-73386235	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536272484	chr11:73386423-73386424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371369054	chr11:73386432-73386433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377032206	chr11:73386508-73386509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569732240	chr11:73386514-73386515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370397517	chr11:73386569-73386570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566458592	chr11:73386571-73386572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73538626	chr11:73386641-73386642	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs147186852	chr11:73386737-73386738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558612740	chr11:73386772-73386773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116351590	chr11:73386935-73386936	Weak transcription Strong transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
15	rs544349102	chr11:73386953-73386954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138734935	chr11:73387058-73387059	Weak transcription Strong transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
17	rs398115500	chr11:73387063-73387064	Weak transcription Strong transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
18	rs142057143	chr11:73387080-73387081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574359665	chr11:73387104-73387105	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370361213	chr11:73387123-73387124	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537108711	chr11:73387126-73387127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540123281	chr11:73387348-73387349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186974157	chr11:73387357-73387358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191441354	chr11:73387411-73387412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546019396	chr11:73387432-73387433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562957151	chr11:73387462-73387463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs61901458	chr11:73387498-73387499	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531812882	chr11:73387506-73387507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548731847	chr11:73387517-73387518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71469460	chr11:73387539-73387540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575468751	chr11:73387577-73387578	Weak transcription Strong transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
32	rs201633357	chr11:73387608-73387609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12273956	chr11:73387627-73387628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375302903	chr11:73387657-73387658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11539613	chr11:73387701-73387702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs151335581	chr11:73387704-73387705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183634343	chr11:73387790-73387791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566515871	chr11:73387796-73387797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538588563	chr11:73387839-73387840	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551989492	chr11:73387876-73387877	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376022497	chr11:73387948-73387949	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114076437	chr11:73387981-73387982	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537663074	chr11:73387982-73387983	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374100093	chr11:73387987-73387988	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557110475	chr11:73388009-73388010	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554380337	chr11:73388015-73388016	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574273483	chr11:73388033-73388034	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200137762	chr11:73388063-73388064	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533882584	chr11:73388084-73388085	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553639037	chr11:73388106-73388107	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
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
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
Hodgkin''s lymphoma	17606441	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
Lung cancer	18438408	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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17142309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:221 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73372400-73388200	Weak transcription	HSMMtube	muscle
2	chr11:73372400-73395400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr11:73372600-73388200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:73372600-73388200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr11:73372600-73388400	Weak transcription	Dnd41	blood
6	chr11:73372600-73394800	Weak transcription	Brain Germinal Matrix	brain
7	chr11:73372800-73388400	Weak transcription	NHLF	lung
8	chr11:73372800-73390600	Weak transcription	HUVEC	blood vessel
9	chr11:73373400-73388200	Weak transcription	Fetal Thymus	thymus
10	chr11:73374200-73391800	Weak transcription	Hela-S3	cervix
11	chr11:73374400-73427200	Weak transcription	A549	lung
12	chr11:73374800-73388800	Weak transcription	GM12878-XiMat	blood
13	chr11:73375200-73387800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr11:73375200-73388400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr11:73375200-73388400	Weak transcription	Fetal Lung	lung
16	chr11:73375200-73388800	Weak transcription	Brain Hippocampus Middle	brain
17	chr11:73375200-73404400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr11:73375400-73387600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr11:73375400-73387800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr11:73375400-73387800	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr11:73375400-73387800	Weak transcription	Fetal Muscle Leg	muscle
22	chr11:73375400-73388200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr11:73375400-73388200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr11:73375400-73388200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:73375400-73388400	Weak transcription	Brain Angular Gyrus	brain
26	chr11:73375800-73387400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:73375800-73388200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr11:73375800-73388400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr11:73375800-73400000	Weak transcription	Lung	lung
30	chr11:73375800-73416200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:73376000-73388200	Weak transcription	Brain Substantia Nigra	brain
32	chr11:73376000-73388400	Weak transcription	HepG2	liver
33	chr11:73376200-73388400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr11:73376200-73390400	Weak transcription	Brain Anterior Caudate	brain
35	chr11:73376200-73395600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:73376200-73398400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr11:73376400-73388200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:73376600-73399200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr11:73376600-73400000	Weak transcription	Spleen	Spleen
40	chr11:73376800-73388800	Weak transcription	Fetal Kidney	kidney
41	chr11:73377000-73400000	Weak transcription	Psoas Muscle	Psoas
42	chr11:73377200-73388200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr11:73377200-73388600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr11:73379400-73388600	Weak transcription	K562	blood
45	chr11:73381400-73389000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr11:73381800-73400000	Weak transcription	Rectal Smooth Muscle	rectum
47	chr11:73382200-73399000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr11:73382200-73436000	Weak transcription	Small Intestine	intestine
49	chr11:73382200-73441200	Weak transcription	Stomach Mucosa	stomach
50	chr11:73382400-73388800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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