Variant report

Variant	nsv947778
Chromosome Location	chr10:26944706-26958639
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:13)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr10:26944728..26946269-chr10:26952549..26954691,2	K562	blood:
2	chr10:26942956..26944932-chr10:26949482..26951411,2	K562	blood:
3	chr10:26954305..26956450-chr10:26987430..26988975,2	K562	blood:
4	chr10:26948657..26951534-chr10:26954538..26957242,4	K562	blood:
5	chr10:26942956..26944932-chr10:26949482..26951411,2	K562	blood:
6	chr10:26942956..26945018-chr10:26949482..26951597,3	K562	blood:
7	chr10:26955921..26958837-chr10:26961876..26965160,3	K562	blood:
8	chr10:26953025..26955897-chr10:26956336..26959208,3	K562	blood:
9	chr10:26953025..26955897-chr10:26956336..26959208,3	K562	blood:
10	chr10:26948657..26951534-chr10:26954538..26957242,4	K562	blood:
11	chr10:26952451..26954548-chr10:26967592..26969154,2	K562	blood:
12	chr10:26944728..26946269-chr10:26952549..26954691,2	K562	blood:
13	chr10:26942956..26945018-chr10:26949482..26951597,3	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ABI1-1	chr10:26953135-26953321	ENSG00000227932.1
2	lnc-ABI1-1	chr10:26957336-26957423	ENSG00000227932.1

No data

Variant related genes	Relation type
ENSG00000227932	chromatin interactions

Extended variants
information (count: 342 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:342 , 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	rs11818450	chr10:26944820-26944821	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535817219	chr10:26944830-26944831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555922424	chr10:26944845-26944846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566146168	chr10:26944930-26944931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190450198	chr10:26945036-26945037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs57152940	chr10:26945048-26945049	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs35687098	chr10:26945052-26945053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543709361	chr10:26945056-26945057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556802721	chr10:26945075-26945076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564284628	chr10:26945118-26945119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145818573	chr10:26945169-26945170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542194057	chr10:26945189-26945190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181917716	chr10:26945193-26945194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528181127	chr10:26945194-26945195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541311404	chr10:26945195-26945196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35658553	chr10:26945245-26945246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564706786	chr10:26945272-26945273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559734125	chr10:26945279-26945280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs4749173	chr10:26945281-26945282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571745589	chr10:26945304-26945305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74128395	chr10:26945322-26945323	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs529336396	chr10:26945353-26945354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549385996	chr10:26945357-26945358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566085805	chr10:26945382-26945383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2448095	chr10:26951400-26951401	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs1830842	chr10:26951427-26951428	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs549220727	chr10:26951435-26951436	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs575892380	chr10:26951439-26951440	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs559655198	chr10:26951443-26951444	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs528473747	chr10:26951451-26951452	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs188366482	chr10:26951457-26951458	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs571192338	chr10:26951468-26951469	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs74128396	chr10:26951536-26951537	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs562904643	chr10:26951565-26951566	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs372835612	chr10:26951572-26951573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs550333419	chr10:26951607-26951608	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141736379	chr10:26951609-26951610	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536303920	chr10:26951636-26951637	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552794821	chr10:26951682-26951683	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79764479	chr10:26951684-26951685	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2448094	chr10:26951699-26951700	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs547193857	chr10:26951705-26951706	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145904364	chr10:26951725-26951726	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368304128	chr10:26951806-26951807	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115333703	chr10:26951807-26951808	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10829044	chr10:26951839-26951840	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs2477273	chr10:26951850-26951851	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs34586673	chr10:26951977-26951978	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139100573	chr10:26951978-26951979	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs398069750	chr10:26951981-26951982	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

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
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
Non-syndromic sensorineural hearing loss	17431168	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:26944800-26945400	Enhancers	Stomach Mucosa	stomach
2	chr10:26951400-26952200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr10:26951600-26954000	Weak transcription	K562	blood
4	chr10:26954000-26954400	Strong transcription	K562	blood
5	chr10:26954400-26955000	Transcr. at gene 5' and 3'	K562	blood
6	chr10:26954800-26955000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr10:26955000-26956000	Genic enhancers	K562	blood
8	chr10:26955800-26956000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr10:26956000-26957000	Strong transcription	K562	blood
10	chr10:26957000-26957400	Enhancers	Fetal Lung	lung
11	chr10:26957000-26962200	Weak transcription	K562	blood

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