Variant report

Variant	nsv948194
Chromosome Location	chr10:116659750-116662339
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:116660854-116661040	HepG2	liver:	n/a	n/a
2	CTCF	chr10:116660949-116661024	MCF-7	breast:	n/a	n/a
3	CTCF	chr10:116660953-116661044	MCF-7	breast:	n/a	n/a
4	CTCF	chr10:116660939-116660983	K562	blood:	n/a	n/a
5	POLR2A	chr10:116660955-116661045	A549	lung:	n/a	n/a
6	POLR2A	chr10:116660591-116660662	Gliobla	brain:	n/a	n/a
7	TCF7L2	chr10:116661949-116662305	PANC-1	pancreas:	n/a	n/a

Variant related genes	Relation type
ENSG00000226428	TF binding region

Extended variants
information (count: 118 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551307338	chr10:116659753-116659754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138290541	chr10:116659760-116659761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12219102	chr10:116659766-116659767	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs577107337	chr10:116659782-116659783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540964256	chr10:116659794-116659795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7090096	chr10:116659818-116659819	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs11196972	chr10:116659832-116659833	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs536051640	chr10:116659879-116659880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557628233	chr10:116659904-116659905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149592725	chr10:116659917-116659918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547895836	chr10:116660001-116660002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546183463	chr10:116660030-116660031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558104561	chr10:116660038-116660039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184971283	chr10:116660041-116660042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540265983	chr10:116660043-116660044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35673313	chr10:116660070-116660071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563016764	chr10:116660085-116660086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190165418	chr10:116660131-116660132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561827475	chr10:116660133-116660134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529396253	chr10:116660170-116660171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143530175	chr10:116660199-116660200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562553287	chr10:116660328-116660329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533224163	chr10:116660337-116660338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11370750	chr10:116660394-116660395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs397718453	chr10:116660400-116660401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs397831027	chr10:116660401-116660402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199608283	chr10:116660402-116660403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566790154	chr10:116660414-116660415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552112785	chr10:116660422-116660423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527254393	chr10:116660429-116660430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549045789	chr10:116660439-116660440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567359047	chr10:116660443-116660444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537949417	chr10:116660522-116660523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551148073	chr10:116660584-116660585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569374320	chr10:116660589-116660590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540090916	chr10:116660596-116660597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558153051	chr10:116660630-116660631	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573511990	chr10:116660633-116660634	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115532030	chr10:116660643-116660644	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555385032	chr10:116660651-116660652	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182393689	chr10:116660657-116660658	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570345297	chr10:116660658-116660659	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544319600	chr10:116660683-116660684	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562665734	chr10:116660688-116660689	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371137050	chr10:116660691-116660692	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535378705	chr10:116660692-116660693	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546957642	chr10:116660707-116660708	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114613012	chr10:116660731-116660732	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527623519	chr10:116660737-116660738	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187372440	chr10:116660750-116660751	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116656600-116660400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:116658200-116661400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr10:116660400-116660800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:116660600-116660800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr10:116660800-116666200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:116660800-116666400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr10:116660800-116676400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr10:116661400-116661800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr10:116661400-116662000	Enhancers	A549	lung
10	chr10:116661400-116662400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr10:116661400-116662400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr10:116661600-116662400	Enhancers	HSMMtube	muscle
13	chr10:116661600-116662400	Enhancers	Osteobl	bone
14	chr10:116661600-116662600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr10:116661800-116662000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr10:116661800-116662200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr10:116661800-116662400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:116661800-116662400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr10:116661800-116662400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr10:116661800-116662400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr10:116661800-116662400	Enhancers	HSMM	muscle
22	chr10:116661800-116662400	Enhancers	NH-A	brain
23	chr10:116662000-116662200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr10:116662000-116664200	Weak transcription	A549	lung
25	chr10:116662200-116662400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr10:116662200-116666200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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