Variant report

Variant	nsv522229
Chromosome Location	chr11:15941099-15946803
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	chr11:15944097..15946118-chr11:15948040..15950175,2	K562	blood:
2	chr11:15873733..15874420-chr11:15944016..15945522,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-INSC-3	chr11:15944830-15945453	NONHSAT018165
2	lnc-INSC-3	chr11:15944830-15944928	XLOC_009075
3	lnc-INSC-3	chr11:15944830-15944928	ENSG00000254661

Extended variants
information (count: 230 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:230 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10458877	chr11:15941099-15941100	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563089796	chr11:15941119-15941120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530172830	chr11:15941214-15941215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548257614	chr11:15941217-15941218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112443755	chr11:15941247-15941248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs72070269	chr11:15941248-15941249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562596658	chr11:15941289-15941290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs202185284	chr11:15941293-15941294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201039293	chr11:15941296-15941297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536597331	chr11:15941297-15941298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556417068	chr11:15941298-15941299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566589693	chr11:15941309-15941310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533939515	chr11:15941322-15941323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35005217	chr11:15941331-15941332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552104367	chr11:15941333-15941334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143353293	chr11:15941338-15941339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372750825	chr11:15941348-15941349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556910503	chr11:15941415-15941416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147994891	chr11:15941504-15941505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529766176	chr11:15941578-15941579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548821429	chr11:15941579-15941580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554721170	chr11:15941585-15941586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572935483	chr11:15941599-15941600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540237772	chr11:15941600-15941601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs11820748	chr11:15941601-15941602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371524458	chr11:15941627-15941628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147138160	chr11:15941628-15941629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192567759	chr11:15941666-15941667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544874863	chr11:15941739-15941740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562970862	chr11:15941753-15941754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs16932316	chr11:15941809-15941810	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs143534099	chr11:15941936-15941937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370786247	chr11:15941941-15941942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147177025	chr11:15941966-15941967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78266041	chr11:15941979-15941980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182788172	chr11:15941984-15941985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373094920	chr11:15941999-15942000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550872829	chr11:15942010-15942011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569023867	chr11:15942020-15942021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs16932318	chr11:15942032-15942033	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs187477344	chr11:15942077-15942078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554759800	chr11:15942081-15942082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371086660	chr11:15942137-15942138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560632038	chr11:15942215-15942216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1440701	chr11:15942302-15942303	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs533864894	chr11:15942307-15942308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369132307	chr11:15942321-15942322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558304397	chr11:15942380-15942381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73430984	chr11:15942384-15942385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543836015	chr11:15942452-15942453	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
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
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Cancer	24489367	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Neuroblastoma	19435921	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21785460	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:15928600-15941800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:15935600-15942000	Weak transcription	Left Ventricle	heart
3	chr11:15936000-15942000	Weak transcription	Right Atrium	heart
4	chr11:15940000-15941800	Weak transcription	Fetal Intestine Large	intestine
5	chr11:15940200-15943400	Enhancers	Fetal Heart	heart
6	chr11:15940800-15945400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr11:15941000-15945000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr11:15941200-15943000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:15941800-15942000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:15941800-15942800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:15941800-15943400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:15941800-15943600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:15942000-15942200	Enhancers	Fetal Intestine Large	intestine
14	chr11:15942000-15942800	Enhancers	Brain Germinal Matrix	brain
15	chr11:15942000-15942800	Enhancers	Left Ventricle	heart
16	chr11:15942000-15942800	Enhancers	Right Atrium	heart
17	chr11:15942000-15943400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:15942200-15943400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:15942400-15942800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:15942400-15942800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
21	chr11:15942400-15942800	Enhancers	Fetal Lung	lung
22	chr11:15942400-15942800	Enhancers	Right Ventricle	heart
23	chr11:15942400-15943200	Enhancers	NHEK	skin
24	chr11:15942400-15943400	Enhancers	HMEC	breast
25	chr11:15942600-15942800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:15942600-15943000	Enhancers	Fetal Muscle Leg	muscle
27	chr11:15942600-15943200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
28	chr11:15942600-15943200	Enhancers	Placenta	Placenta
29	chr11:15942600-15943400	Enhancers	Lung	lung
30	chr11:15942800-15946000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:15943000-15944800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:15943400-15944800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:15943400-15947000	Weak transcription	HMEC	breast
34	chr11:15943600-15946200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:15944800-15945200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:15944800-15945200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:15945000-15945400	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr11:15945200-15947000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:15945200-15950000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:15946000-15946400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:15946200-15946400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:15946400-15946800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:15946800-15948400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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