Variant report

Variant	nsv512154
Chromosome Location	chr10:27222630-27227307
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	chr10:27226988-27227113	A549	lung:	n/a	n/a
2	CTCF	chr10:27226074-27226177	GM12892	blood:	n/a	n/a
3	CTCF	chr10:27226020-27226170	GM12875	blood:	n/a	n/a
4	CTCF	chr10:27226080-27226230	GM12868	blood:	n/a	n/a
5	CTCF	chr10:27226099-27226179	GM12891	blood:	n/a	n/a
6	CTCF	chr10:27226076-27226183	MCF-7	breast:	n/a	n/a
7	CTCF	chr10:27226098-27226178	GM12878	blood:	n/a	n/a
8	CTCF	chr10:27226060-27226210	GM12865	blood:	n/a	n/a
9	CTCF	chr10:27226065-27226184	MCF-7	breast:	n/a	n/a
10	CTCF	chr10:27225900-27226050	GM12872	blood:	n/a	n/a
11	CTCF	chr10:27226080-27226230	GM12872	blood:	n/a	n/a
12	CTCF	chr10:27226069-27226163	MCF-7	breast:	n/a	n/a
13	POLR2A	chr10:27223263-27223396	GM12878	blood:	n/a	n/a
14	POLR2A	chr10:27225813-27225818	MCF-7	breast:	n/a	n/a
15	POLR2A	chr10:27225824-27225948	MCF-7	breast:	n/a	n/a
16	SPI1	chr10:27223305-27223540	GM12878	blood:	n/a	n/a
17	SPI1	chr10:27223361-27223496	GM12878	blood:	n/a	n/a
18	SPI1	chr10:27223253-27223543	GM12891	blood:	n/a	n/a
19	SPI1	chr10:27223257-27223609	GM12891	blood:	n/a	n/a
20	STAT3	chr10:27226975-27227232	MCF10A-Er-Src	breast:	n/a	n/a
21	ZNF384	chr10:27222798-27223069	K562	blood:	n/a	n/a

Variant related genes	Relation type
LINC00202-1	TF binding region

Extended variants
information (count: 312 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:312 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75492977	chr10:27222632-27222633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192345197	chr10:27222633-27222634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs72805433	chr10:27222641-27222642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575611738	chr10:27222687-27222688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537722563	chr10:27222701-27222702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112550125	chr10:27222706-27222707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549841083	chr10:27222709-27222710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111287275	chr10:27222711-27222712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563254948	chr10:27222714-27222715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111425827	chr10:27222717-27222718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554447501	chr10:27222771-27222772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115040280	chr10:27222778-27222779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540083154	chr10:27222794-27222795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2488582	chr10:27222799-27222800	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs151287474	chr10:27222805-27222806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565736473	chr10:27222818-27222819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545897979	chr10:27222819-27222820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534529315	chr10:27222827-27222828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548320796	chr10:27222829-27222830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562314705	chr10:27222836-27222837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113049385	chr10:27222839-27222840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544535391	chr10:27222855-27222856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111256658	chr10:27222857-27222858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116717960	chr10:27222873-27222874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2477937	chr10:27222874-27222875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
26	rs368217522	chr10:27222881-27222882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566956701	chr10:27222884-27222885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532466748	chr10:27222910-27222911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552662765	chr10:27222911-27222912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569111673	chr10:27222914-27222915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201240403	chr10:27222930-27222931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146937626	chr10:27222932-27222933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2797940	chr10:27222934-27222935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs28545390	chr10:27222936-27222937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538278578	chr10:27222973-27222974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372424104	chr10:27222974-27222975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184072005	chr10:27222997-27222998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568041275	chr10:27223003-27223004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533721596	chr10:27223005-27223006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2765423	chr10:27223006-27223007	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs576987372	chr10:27223043-27223044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545530903	chr10:27223045-27223046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2765422	chr10:27223053-27223054	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs573286697	chr10:27223062-27223063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553199449	chr10:27223093-27223094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575941347	chr10:27223094-27223095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541896869	chr10:27223098-27223099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144663495	chr10:27223163-27223164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573240522	chr10:27223177-27223178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs111589198	chr10:27223183-27223184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:45)

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
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
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21525872	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27220200-27223200	Enhancers	Brain Germinal Matrix	brain
2	chr10:27220600-27228000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr10:27220600-27234200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr10:27220800-27225800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:27220800-27226400	Weak transcription	Fetal Muscle Leg	muscle
6	chr10:27220800-27235200	Weak transcription	Gastric	stomach
7	chr10:27222600-27222800	Enhancers	Placenta	Placenta
8	chr10:27225800-27226200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr10:27225800-27226600	Enhancers	Fetal Muscle Trunk	muscle
10	chr10:27226200-27228200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr10:27226400-27226600	Enhancers	Fetal Muscle Leg	muscle
12	chr10:27226600-27227400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr10:27226600-27228600	Active TSS	Fetal Muscle Leg	muscle

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