Variant report

Variant	esv34075
Chromosome Location	chr10:118959363-118967604
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	chr10:118962660-118962810	GM12873	blood:	n/a	n/a
2	CTCF	chr10:118965180-118965330	GM12866	blood:	n/a	n/a
3	CTCF	chr10:118967084-118967129	NHEK	skin:	n/a	n/a
4	GTF2F1	chr10:118961096-118961159	K562	blood:	n/a	n/a
5	MAZ	chr10:118964852-118965009	HepG2	liver:	n/a	n/a
6	SETDB1	chr10:118965679-118966021	U2OS	brain:	n/a	n/a
7	SPI1	chr10:118966787-118966964	GM12891	blood:	n/a	n/a
8	ZNF143	chr10:118967150-118967442	H1-hESC	embryonic stem cell:	n/a	n/a
9	ZNF143	chr10:118959216-118959558	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000236171	TF binding region

Extended variants
information (count: 370 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:370 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17095821	chr10:118959363-118959364	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191607205	chr10:118959382-118959383	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs182314707	chr10:118959407-118959408	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs60088429	chr10:118959411-118959412	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs530879143	chr10:118959422-118959423	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs186637343	chr10:118959439-118959440	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs570687247	chr10:118959466-118959467	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs17095824	chr10:118959488-118959489	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs34582090	chr10:118959495-118959496	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs573304258	chr10:118959522-118959523	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs547261912	chr10:118959563-118959564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567008505	chr10:118959579-118959580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs60085909	chr10:118959586-118959587	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs151110855	chr10:118959596-118959597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372074205	chr10:118959641-118959642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs61332182	chr10:118959696-118959697	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs56830166	chr10:118959742-118959743	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs192942433	chr10:118959749-118959750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562978830	chr10:118959765-118959766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs59833995	chr10:118959783-118959784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs545405983	chr10:118959832-118959833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184631509	chr10:118959842-118959843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542224375	chr10:118959860-118959861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190349115	chr10:118959869-118959870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148930465	chr10:118959901-118959902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374851561	chr10:118959909-118959910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376595066	chr10:118959937-118959938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147877179	chr10:118959947-118959948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372606554	chr10:118959955-118959956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200898830	chr10:118959956-118959957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544295118	chr10:118959976-118959977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115823129	chr10:118960038-118960039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113025952	chr10:118960047-118960048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112409773	chr10:118960072-118960073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560859079	chr10:118960079-118960080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112004616	chr10:118960111-118960112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548196253	chr10:118960124-118960125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114296208	chr10:118960127-118960128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111761399	chr10:118960131-118960132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111486939	chr10:118960145-118960146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112630964	chr10:118960151-118960152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1678042	chr10:118960186-118960187	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs192871558	chr10:118960193-118960194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535362017	chr10:118960197-118960198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547349000	chr10:118960227-118960228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555775851	chr10:118960241-118960242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575222839	chr10:118960247-118960248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565986336	chr10:118960266-118960267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552649905	chr10:118960325-118960326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs36101740	chr10:118960326-118960327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Breast cancer	21509527	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Migraine	22355750	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:118958000-118969400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:118961600-118962000	Enhancers	Spleen	Spleen
3	chr10:118962000-118970000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr10:118963400-118964400	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr10:118963800-118964200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr10:118964400-118964800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr10:118967400-118967800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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