Variant report

Variant	nsv976477
Chromosome Location	chr11:9929222-9945590
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9928185..9930607-chr11:9931281..9933826,2	MCF-7	breast:
2	chr11:9926975..9929844-chr11:10324322..10328573,4	MCF-7	breast:
3	chr11:9928185..9930607-chr11:9931281..9933826,2	MCF-7	breast:
4	chr11:9918384..9921801-chr11:9925480..9929741,5	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SWAP70-2	chr11:9937153-9937230	ENSG00000255476.1

Variant related genes	Relation type
ENSG00000254554	chromatin interactions
ENSG00000148926	chromatin interactions

Extended variants
information (count: 719 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:719 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532277125	chr11:9929223-9929224	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs12419564	chr11:9929305-9929306	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs143084674	chr11:9929372-9929373	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs146146791	chr11:9929404-9929405	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs74553374	chr11:9929470-9929471	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs11042541	chr11:9929477-9929478	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs1398499	chr11:9929524-9929525	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs556941337	chr11:9929525-9929526	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs570248583	chr11:9929535-9929536	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs12362504	chr11:9929542-9929543	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs559320757	chr11:9929587-9929588	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs189337158	chr11:9929652-9929653	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs180914744	chr11:9929658-9929659	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs551841116	chr11:9929689-9929690	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs571728941	chr11:9929693-9929694	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs185538904	chr11:9929749-9929750	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs543524746	chr11:9929750-9929751	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs372293983	chr11:9929755-9929756	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs190255744	chr11:9929774-9929775	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs17356069	chr11:9929836-9929837	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs545668182	chr11:9929856-9929857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370999148	chr11:9929881-9929882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575331701	chr11:9929886-9929887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527666884	chr11:9929900-9929901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540985204	chr11:9929913-9929914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs367731921	chr11:9929914-9929915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113128408	chr11:9929922-9929923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530105817	chr11:9930014-9930015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113875428	chr11:9930031-9930032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111464270	chr11:9930034-9930035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575978726	chr11:9930037-9930038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532800939	chr11:9930043-9930044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113167272	chr11:9930067-9930068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190973911	chr11:9930088-9930089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10840323	chr11:9930099-9930100	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs554238604	chr11:9930123-9930124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568063658	chr11:9930132-9930133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542669796	chr11:9930133-9930134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs71463738	chr11:9930140-9930141	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs56165961	chr11:9930149-9930150	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs576622498	chr11:9930165-9930166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545631560	chr11:9930168-9930169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536864299	chr11:9930174-9930175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs55813311	chr11:9930177-9930178	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs56138865	chr11:9930181-9930182	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs71453938	chr11:9930184-9930185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541738850	chr11:9930220-9930221	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs77403152	chr11:9930233-9930234	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372207720	chr11:9930234-9930235	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs76933706	chr11:9930239-9930240	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:217 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9878800-9952200	Weak transcription	Aorta	Aorta
2	chr11:9882400-9929600	Weak transcription	Primary T cells from cord blood	blood
3	chr11:9894400-9978600	Weak transcription	Left Ventricle	heart
4	chr11:9904000-9937000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:9910000-9954600	Weak transcription	Pancreas	Pancrea
6	chr11:9915000-9937200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr11:9916600-9932600	Weak transcription	Fetal Intestine Small	intestine
8	chr11:9916800-9944400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:9916800-9944400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr11:9917000-9937200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr11:9917600-9933200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:9917600-9934200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr11:9917600-9951800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr11:9917600-9952400	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr11:9917800-9933200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr11:9917800-9952600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr11:9920000-9933200	Weak transcription	Fetal Stomach	stomach
18	chr11:9921400-9934400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr11:9923400-9943600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:9923400-9952200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:9924000-9944400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr11:9925200-9930000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:9925200-9944400	Weak transcription	Ovary	ovary
24	chr11:9925400-9929600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr11:9925400-9951000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr11:9925400-9952200	Weak transcription	Lung	lung
27	chr11:9926200-9929400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:9926200-9929600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr11:9926200-9929600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr11:9926200-9929600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:9926200-9929600	Enhancers	Osteobl	bone
32	chr11:9926400-9929400	Enhancers	NHEK	skin
33	chr11:9926400-9929600	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr11:9926400-9929600	Enhancers	HSMMtube	muscle
35	chr11:9926400-9929600	Enhancers	NH-A	brain
36	chr11:9926400-9929600	Enhancers	NHLF	lung
37	chr11:9926400-9929800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:9926600-9929400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:9926800-9929400	Enhancers	Hela-S3	cervix
40	chr11:9927000-9929600	Enhancers	HSMM	muscle
41	chr11:9927600-9929400	Enhancers	HUVEC	blood vessel
42	chr11:9927800-9929600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr11:9927800-9929600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr11:9927800-9944400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr11:9928000-9929400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:9928000-9929600	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr11:9928000-9929600	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr11:9928000-9944200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr11:9928000-9944400	Weak transcription	Brain Anterior Caudate	brain
50	chr11:9928200-9929800	Enhancers	NHDF-Ad	bronchial

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