Variant report

Variant	nsv975204
Chromosome Location	chr11:76060911-76065114
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:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:76064413..76068190-chr11:76071048..76073540,4	MCF-7	breast:
2	chr11:76063904..76066072-chr11:76155439..76156956,2	MCF-7	breast:
3	chr11:76063211..76065578-chr11:76066978..76069387,2	K562	blood:
4	chr11:76063211..76065578-chr11:76066828..76069387,3	K562	blood:
5	chr11:76054270..76056421-chr11:76059241..76061034,2	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PRKRIR	hsa-miR-34a-5p	chr11:76061153-76061174

Variant related genes	Relation type
ENSG00000158636	chromatin interactions
ENSG00000255135	chromatin interactions
ENSG00000137492	chromatin interactions

Extended variants
information (count: 162 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:162 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527507267	chr11:76060926-76060927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146937192	chr11:76060929-76060930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546425900	chr11:76060993-76060994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564212275	chr11:76061016-76061017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183488201	chr11:76061077-76061078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567698991	chr11:76061082-76061083	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569594571	chr11:76061150-76061151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555608617	chr11:76061187-76061188	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535790453	chr11:76061220-76061221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188213775	chr11:76061236-76061237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566221325	chr11:76061268-76061269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192384495	chr11:76061285-76061286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374516491	chr11:76061299-76061300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577718956	chr11:76061351-76061352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185792716	chr11:76061409-76061410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144930424	chr11:76061412-76061413	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573947989	chr11:76061438-76061439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534846076	chr11:76061439-76061440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542632290	chr11:76061455-76061456	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34973018	chr11:76061517-76061518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78160409	chr11:76061519-76061520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34471894	chr11:76061522-76061523	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34856525	chr11:76061574-76061575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189921609	chr11:76061664-76061665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34275641	chr11:76061668-76061669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572242535	chr11:76061682-76061683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149062060	chr11:76061683-76061684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564229348	chr11:76061709-76061710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535118482	chr11:76061742-76061743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182135907	chr11:76061747-76061748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549867763	chr11:76061761-76061762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563159864	chr11:76061774-76061775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528912095	chr11:76061794-76061795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548688547	chr11:76061812-76061813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566408363	chr11:76061813-76061814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534939566	chr11:76061826-76061827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs55789802	chr11:76061841-76061842	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186331450	chr11:76061891-76061892	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571473617	chr11:76061913-76061914	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374726108	chr11:76061973-76061974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537167687	chr11:76061974-76061975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377469978	chr11:76061977-76061978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370881439	chr11:76062001-76062002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557454403	chr11:76062003-76062004	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574033202	chr11:76062036-76062037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201562376	chr11:76062042-76062043	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375250324	chr11:76062052-76062053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188482403	chr11:76062055-76062056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71469516	chr11:76062068-76062069	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181335359	chr11:76062077-76062078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Melanoma	18172304	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
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21482786	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	16608533	CNVD
Usher syndrome	18421352	CNVD
Breast cancer	21858162	CNVD
Ovarian cancer	21240255	CNVD

Chromatin state (count:249 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76048000-76061400	Weak transcription	Primary B cells from peripheral blood	blood
2	chr11:76048000-76064800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:76048200-76064000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr11:76048400-76061800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr11:76050000-76064600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr11:76050400-76064000	Weak transcription	Fetal Stomach	stomach
7	chr11:76050400-76064200	Weak transcription	Left Ventricle	heart
8	chr11:76050400-76064200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr11:76050400-76064200	Weak transcription	Thymus	Thymus
10	chr11:76050400-76064200	Weak transcription	NHLF	lung
11	chr11:76050400-76065000	Weak transcription	Colonic Mucosa	Colon
12	chr11:76050600-76064200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr11:76050600-76064600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:76050800-76063800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr11:76050800-76063800	Weak transcription	Osteobl	bone
16	chr11:76050800-76064200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr11:76051000-76063800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr11:76051000-76064200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr11:76051000-76064400	Weak transcription	Aorta	Aorta
20	chr11:76051200-76061600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr11:76051200-76065000	Weak transcription	Gastric	stomach
22	chr11:76051200-76065200	Weak transcription	Right Ventricle	heart
23	chr11:76051200-76066200	Weak transcription	NHDF-Ad	bronchial
24	chr11:76051400-76063800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:76052600-76065200	Weak transcription	HSMM	muscle
26	chr11:76052800-76063800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr11:76053200-76064200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:76054000-76063800	Weak transcription	Hela-S3	cervix
29	chr11:76054200-76064200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:76054600-76065600	Weak transcription	Fetal Kidney	kidney
31	chr11:76054600-76080600	Weak transcription	Psoas Muscle	Psoas
32	chr11:76055200-76064600	Weak transcription	Fetal Brain Female	brain
33	chr11:76055400-76063800	Weak transcription	A549	lung
34	chr11:76055400-76064200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:76055400-76064400	Weak transcription	Fetal Intestine Small	intestine
36	chr11:76055400-76065200	Weak transcription	HepG2	liver
37	chr11:76056800-76065000	Weak transcription	Esophagus	oesophagus
38	chr11:76056800-76080600	Weak transcription	Small Intestine	intestine
39	chr11:76057000-76063800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr11:76057200-76063800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr11:76057400-76065000	Weak transcription	Lung	lung
42	chr11:76057800-76064000	Weak transcription	NHEK	skin
43	chr11:76058200-76064000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr11:76058200-76064800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr11:76058400-76064600	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr11:76058600-76061600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr11:76058600-76064000	Weak transcription	Fetal Intestine Large	intestine
48	chr11:76058600-76065800	Weak transcription	Brain Germinal Matrix	brain
49	chr11:76058800-76064400	Weak transcription	HUVEC	blood vessel
50	chr11:76058800-76071400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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