Variant report

Variant	nsv516803
Chromosome Location	chr10:116528294-116556846
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:14)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:116546305..116546864-chr10:116581188..116581980,2	MCF-7	breast:
2	chr10:116528299..116531150-chr10:116536234..116538726,2	MCF-7	breast:
3	chr10:116520053..116522860-chr10:116528096..116531529,3	K562	blood:
4	chr10:116284639..116286631-chr10:116544810..116546439,2	MCF-7	breast:
5	chr10:116528299..116531150-chr10:116536234..116538726,2	MCF-7	breast:
6	chr10:116310327..116310900-chr10:116545935..116546455,2	MCF-7	breast:
7	chr10:116469822..116472730-chr10:116527178..116529089,2	MCF-7	breast:
8	chr10:116512788..116514605-chr10:116528016..116530958,2	MCF-7	breast:
9	chr10:116526447..116528712-chr10:116580718..116582885,3	MCF-7	breast:
10	chr10:116531753..116534346-chr10:116628137..116630750,2	K562	blood:
11	chr10:116484261..116485769-chr10:116537705..116539311,2	MCF-7	breast:
12	chr10:116529761..116532511-chr10:116581268..116583823,3	MCF-7	breast:
13	chr10:116510537..116513350-chr10:116526093..116528633,2	MCF-7	breast:
14	chr10:116463343..116464122-chr10:116545816..116546627,2	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM160B1-1	chr10:116537710-116538327	NONHSAT016463
2	lnc-FAM160B1-1	chr10:116538334-116539662	NONHSAT016463
3	lnc-FAM160B1-4	chr10:116527700-116528317	ucscGeneNc_uc001lca_1
4	lnc-ABLIM1-1	chr10:116552407-116552431	NONHSAT016464
5	lnc-FAM160B1-1	chr10:116535701-116535920	NONHSAT016463
6	lnc-FAM160B1-1	chr10:116535701-116535920	ENSG00000228484
7	lnc-FAM160B1-1	chr10:116537710-116539662	ENSG00000228484

No data

Variant related genes	Relation type
ENSG00000151553	chromatin interactions
ENSG00000099204	chromatin interactions

Extended variants
information (count: 1088 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1088 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11196905	chr10:116528294-116528295	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564785000	chr10:116528302-116528303	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs576872500	chr10:116528354-116528355	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs369995008	chr10:116528400-116528401	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs560730925	chr10:116528406-116528407	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs370493409	chr10:116528422-116528423	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs542893231	chr10:116528449-116528450	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs187006235	chr10:116528450-116528451	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs534992286	chr10:116528462-116528463	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs374546967	chr10:116528474-116528475	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs531566007	chr10:116528483-116528484	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs550160200	chr10:116528538-116528539	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs11196906	chr10:116528561-116528562	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs571604938	chr10:116528611-116528612	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs532636172	chr10:116528623-116528624	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs12247563	chr10:116528637-116528638	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs199987730	chr10:116528639-116528640	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs12262298	chr10:116528657-116528658	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs191852065	chr10:116528680-116528681	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs12262363	chr10:116528735-116528736	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs144250509	chr10:116528738-116528739	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs184132441	chr10:116528753-116528754	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs115374841	chr10:116528777-116528778	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs569973180	chr10:116528815-116528816	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs536995758	chr10:116528832-116528833	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs113652729	chr10:116528844-116528845	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs558518877	chr10:116528845-116528846	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs576801086	chr10:116528863-116528864	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs541107282	chr10:116528886-116528887	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs12262476	chr10:116528924-116528925	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs535038022	chr10:116528932-116528933	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs35691537	chr10:116528954-116528955	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs67402998	chr10:116528960-116528961	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs808347	chr10:116528986-116528987	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs114226155	chr10:116529027-116529028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377486133	chr10:116529035-116529036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531886714	chr10:116529050-116529051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143716898	chr10:116529059-116529060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565267103	chr10:116529070-116529071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532428741	chr10:116529100-116529101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186605067	chr10:116529104-116529105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201462629	chr10:116529118-116529119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201079444	chr10:116529138-116529139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189870224	chr10:116529148-116529149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529873546	chr10:116529152-116529153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201117267	chr10:116529175-116529176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529195284	chr10:116529181-116529182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371338932	chr10:116529182-116529183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs66968292	chr10:116529198-116529199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150027424	chr10:116529199-116529200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cornelia de Lange syndrome	24599119	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	16397240	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hepatocellular carcinoma	16750200	CNVD
Barrett''s syndrome	19417022	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neuroticism	17667963	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	17133270	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:310 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116525600-116528400	Active TSS	Right Atrium	heart
2	chr10:116526200-116528600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr10:116526200-116528600	Active TSS	Right Ventricle	heart
4	chr10:116526600-116528400	Active TSS	Left Ventricle	heart
5	chr10:116526600-116528600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr10:116526600-116528800	Bivalent/Poised TSS	Fetal Brain Female	brain
7	chr10:116526800-116528400	Active TSS	Aorta	Aorta
8	chr10:116526800-116528400	Active TSS	Brain Angular Gyrus	brain
9	chr10:116526800-116528400	Active TSS	Brain Anterior Caudate	brain
10	chr10:116526800-116528600	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr10:116526800-116528600	Active TSS	Rectal Smooth Muscle	rectum
12	chr10:116526800-116528800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr10:116527000-116528400	Active TSS	Ovary	ovary
14	chr10:116527000-116528600	Active TSS	H9 Cell Line	embryonic stem cell
15	chr10:116527000-116528600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr10:116527000-116528600	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr10:116527200-116528400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr10:116527200-116528400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr10:116527200-116528400	Active TSS	HSMMtube	muscle
20	chr10:116527200-116528400	Bivalent/Poised TSS	NHLF	lung
21	chr10:116527200-116528600	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr10:116527200-116528600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr10:116527200-116528600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr10:116527200-116528600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr10:116527200-116528800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
26	chr10:116527400-116528400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr10:116527400-116528400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr10:116527400-116528400	Active TSS	Esophagus	oesophagus
29	chr10:116527400-116528400	Active TSS	Gastric	stomach
30	chr10:116527400-116528400	Active TSS	A549	lung
31	chr10:116527400-116528400	Active TSS	Hela-S3	cervix
32	chr10:116527400-116528600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr10:116527400-116528600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
34	chr10:116527400-116528600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
35	chr10:116527400-116528600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr10:116527400-116528600	Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr10:116527600-116528400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr10:116527600-116528400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr10:116527600-116528400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr10:116527600-116528400	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
41	chr10:116527600-116528400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
42	chr10:116527600-116528400	Bivalent/Poised TSS	Colonic Mucosa	Colon
43	chr10:116527600-116528400	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr10:116527600-116528400	Weak transcription	Fetal Heart	heart
45	chr10:116527600-116528400	Active TSS	Fetal Lung	lung
46	chr10:116527600-116528400	Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr10:116527600-116528400	Active TSS	HMEC	breast
48	chr10:116527600-116528400	Active TSS	HUVEC	blood vessel
49	chr10:116527600-116528400	Active TSS	NH-A	brain
50	chr10:116527600-116528400	Active TSS	NHEK	skin

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