Variant report

Variant	nsv975941
Chromosome Location	chr11:63526220-63527444
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	chr11:63525704..63527853-chr11:63578506..63580593,2	K562	blood:
2	chr11:63526116..63528464-chr11:63528882..63530638,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATL3-1	chr11:63527369-63529844	NONHSAT021901

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	RTN3	hsa-miR-155-5p	chr11:63526406-63526432

Extended variants
information (count: 46 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8343	chr11:63526236-63526237	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576483668	chr11:63526332-63526333	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545504660	chr11:63526338-63526339	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1802332	chr11:63526339-63526340	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs11954	chr11:63526340-63526341	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528247932	chr11:63526350-63526351	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1059619	chr11:63526401-63526402	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192934097	chr11:63526404-63526405	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539169972	chr11:63526409-63526410	Weak transcription Strong transcription Genic enhancers	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
10	rs377748725	chr11:63526417-63526418	Weak transcription Strong transcription Genic enhancers	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
11	rs1065644	chr11:63526422-63526423	Weak transcription Strong transcription Genic enhancers	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
12	rs1802331	chr11:63526425-63526426	Weak transcription Strong transcription Genic enhancers	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
13	rs561825832	chr11:63526444-63526445	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530878772	chr11:63526450-63526451	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375616404	chr11:63526452-63526453	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374981561	chr11:63526479-63526480	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549858247	chr11:63526506-63526507	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1059646	chr11:63526523-63526524	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570072247	chr11:63526530-63526531	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371205618	chr11:63526626-63526627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532616195	chr11:63526628-63526629	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552727787	chr11:63526685-63526686	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11551942	chr11:63526701-63526702	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs534890811	chr11:63526714-63526715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555185214	chr11:63526791-63526792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184729427	chr11:63526827-63526828	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537755684	chr11:63526835-63526836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569269739	chr11:63526913-63526914	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1802333	chr11:63526989-63526990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150406359	chr11:63526991-63526992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545421815	chr11:63527030-63527031	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552632655	chr11:63527091-63527092	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1059708	chr11:63527108-63527109	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189594352	chr11:63527142-63527143	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138134656	chr11:63527160-63527161	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs35324379	chr11:63527192-63527193	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs202157557	chr11:63527206-63527207	Weak transcription Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561923076	chr11:63527251-63527252	Weak transcription Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545308	chr11:63527279-63527280	Weak transcription Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1059763	chr11:63527285-63527286	Weak transcription Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530675046	chr11:63527298-63527299	Weak transcription Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200644841	chr11:63527340-63527341	Weak transcription Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201753132	chr11:63527341-63527342	Weak transcription Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565858210	chr11:63527343-63527344	Weak transcription Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544509356	chr11:63527350-63527351	Weak transcription Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs11551214	chr11:63527401-63527402	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21785460	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	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
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	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
Breast cancer	22522925	CNVD

Chromatin state (count:160 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63473000-63529400	Weak transcription	Right Ventricle	heart
2	chr11:63491000-63529600	Weak transcription	Pancreas	Pancrea
3	chr11:63492800-63528000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:63501800-63530000	Weak transcription	Psoas Muscle	Psoas
5	chr11:63506200-63527600	Weak transcription	Fetal Brain Male	brain
6	chr11:63509000-63534800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr11:63511000-63534800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr11:63511200-63529800	Weak transcription	Stomach Mucosa	stomach
9	chr11:63513600-63528400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:63513800-63529200	Weak transcription	Fetal Heart	heart
11	chr11:63514400-63528400	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr11:63514400-63528800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr11:63515000-63529800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr11:63515400-63527200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr11:63515800-63527600	Weak transcription	Fetal Lung	lung
16	chr11:63515800-63529200	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr11:63516000-63534800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr11:63516400-63527400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:63516400-63528400	Strong transcription	Adipose Nuclei	Adipose
20	chr11:63516400-63533400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:63516400-63534200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr11:63516600-63527400	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr11:63516600-63527400	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr11:63516600-63527400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr11:63516600-63528600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:63516600-63533800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr11:63516800-63530000	Weak transcription	Esophagus	oesophagus
28	chr11:63517000-63527600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:63517200-63527400	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr11:63517400-63530000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr11:63518400-63526600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:63518600-63526800	Strong transcription	Hela-S3	cervix
33	chr11:63518800-63527600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr11:63518800-63530000	Weak transcription	Aorta	Aorta
35	chr11:63519200-63527600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr11:63519400-63528000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:63519400-63534800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr11:63520200-63527400	Weak transcription	Thymus	Thymus
39	chr11:63520400-63527400	Weak transcription	NHLF	lung
40	chr11:63520400-63533400	Weak transcription	GM12878-XiMat	blood
41	chr11:63520600-63528000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr11:63520800-63527400	Weak transcription	Left Ventricle	heart
43	chr11:63520800-63529000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr11:63520800-63529400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:63520800-63529400	Weak transcription	NHEK	skin
46	chr11:63520800-63529600	Weak transcription	Colonic Mucosa	Colon
47	chr11:63521200-63527200	Weak transcription	Fetal Kidney	kidney
48	chr11:63521200-63527400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:63521200-63527400	Weak transcription	Fetal Intestine Large	intestine
50	chr11:63521200-63528000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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