Variant report

Variant	esv3389100
Chromosome Location	chr10:25297446-25301744
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	CEBPB	chr10:25300646-25300803	HepG2	liver:	n/a	chr10:25300717-25300728
2	CEBPB	chr10:25300659-25300795	K562	blood:	n/a	chr10:25300717-25300728
3	CEBPB	chr10:25298224-25298376	K562	blood:	n/a	chr10:25298286-25298299
4	CEBPB	chr10:25300602-25300802	IMR90	lung:	n/a	chr10:25300717-25300728
5	POLR2A	chr10:25300848-25300882	MCF-7	breast:	n/a	n/a
6	POLR2A	chr10:25298493-25298635	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr10:25300929-25300941	MCF-7	breast:	n/a	n/a
8	POLR2A	chr10:25301187-25301214	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:25290895..25292994-chr10:25295667..25297503,2	K562	blood:
2	chr10:25295989..25298315-chr10:25301513..25303764,2	K562	blood:
3	chr10:25294669..25297454-chr10:25303766..25306903,4	K562	blood:
4	chr10:25241117..25243872-chr10:25301053..25303469,2	K562	blood:
5	chr10:25295989..25298315-chr10:25301513..25303764,2	K562	blood:
6	chr10:25295102..25297454-chr10:25303766..25306352,3	K562	blood:

Variant related genes	Relation type
THNSL1	TF binding region
ENSG00000099256	chromatin interactions
ENSG00000151023	chromatin interactions
ENSG00000185875	chromatin interactions
ENSG00000273107	chromatin interactions

Extended variants
information (count: 174 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:174 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575074168	chr10:25297458-25297459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559532782	chr10:25297507-25297508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12785191	chr10:25297513-25297514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73608217	chr10:25297554-25297555	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs560102063	chr10:25297556-25297557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73608218	chr10:25297561-25297562	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs950609	chr10:25297598-25297599	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs112987699	chr10:25297612-25297613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183705031	chr10:25297616-25297617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541118603	chr10:25297656-25297657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561011978	chr10:25297692-25297693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372977200	chr10:25297694-25297695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs386741981	chr10:25297701-25297702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369377040	chr10:25297702-25297703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555652398	chr10:25297720-25297721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376895506	chr10:25297721-25297722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376544949	chr10:25297735-25297736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371700951	chr10:25297736-25297737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113423112	chr10:25297750-25297751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186198724	chr10:25297760-25297761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532327281	chr10:25297799-25297800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532339816	chr10:25297800-25297801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552288099	chr10:25297810-25297811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552108271	chr10:25297812-25297813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111526568	chr10:25297874-25297875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112673821	chr10:25297891-25297892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113342297	chr10:25297907-25297908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538101065	chr10:25297913-25297914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370902896	chr10:25297920-25297921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375423157	chr10:25297924-25297925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565747519	chr10:25297927-25297928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112138220	chr10:25297929-25297930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568520206	chr10:25297936-25297937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534509432	chr10:25297952-25297953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191071529	chr10:25297980-25297981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576926678	chr10:25297991-25297992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545797663	chr10:25298021-25298022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556320370	chr10:25298023-25298024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576198758	chr10:25298024-25298025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548275525	chr10:25298039-25298040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182855055	chr10:25298056-25298057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547899949	chr10:25298131-25298132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187401073	chr10:25298133-25298134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527467520	chr10:25298164-25298165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575822789	chr10:25298184-25298185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372524385	chr10:25298185-25298186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541334764	chr10:25298241-25298242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568245985	chr10:25298255-25298256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561277841	chr10:25298286-25298287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564025023	chr10:25298350-25298351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Autism	21439084	CNVD
Maculopathy	20981449	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:25295200-25300800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr10:25300200-25304800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr10:25300800-25301400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr10:25301200-25301400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
5	chr10:25301400-25301600	Enhancers	Brain Anterior Caudate	brain
6	chr10:25301400-25303000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr10:25301400-25303000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr10:25301600-25304200	Weak transcription	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links