Variant report

Variant	nsv514550
Chromosome Location	chr10:28564750-28569098
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:28568577-28568605	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr10:28568537-28568677	A549	lung:	n/a	n/a
3	CEBPB	chr10:28568482-28568666	K562	blood:	n/a	n/a
4	CTCF	chr10:28565854-28565958	GM10248	blood:	n/a	n/a
5	CUX1	chr10:28565477-28565500	GM12878	blood:	n/a	n/a
6	CUX1	chr10:28567752-28567792	GM12878	blood:	n/a	n/a
7	FOXA1	chr10:28565281-28565686	HepG2	liver:	n/a	n/a
8	FOXA1	chr10:28565261-28565735	HepG2	liver:	n/a	n/a
9	FOXA1	chr10:28565280-28565687	HepG2	liver:	n/a	n/a
10	FOXA2	chr10:28565311-28565650	HepG2	liver:	n/a	n/a
11	POLR2A	chr10:28566268-28566335	MCF10A-Er-Src	breast:	n/a	n/a
12	ZKSCAN1	chr10:28564845-28565019	Hela-S3	cervix:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:28563819..28566589-chr10:28585546..28588280,2	MCF-7	breast:
2	chr10:28558708..28561649-chr10:28562731..28565545,2	MCF-7	breast:
3	chr10:28566640..28568804-chr10:28569342..28571331,2	MCF-7	breast:
4	chr10:28564267..28567183-chr10:28578724..28581652,3	MCF-7	breast:

No data

Variant related genes	Relation type
MPP7	TF binding region
ENSG00000150054	chromatin interactions

Extended variants
information (count: 153 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:153 , 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	rs568693439	chr10:28564753-28564754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144750939	chr10:28564808-28564809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7084650	chr10:28564841-28564842	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs138688453	chr10:28564845-28564846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185197806	chr10:28564889-28564890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1271430	chr10:28564905-28564906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550670494	chr10:28564923-28564924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7100619	chr10:28564927-28564928	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs576722622	chr10:28564932-28564933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540740226	chr10:28564947-28564948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544346220	chr10:28564960-28564961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558994113	chr10:28564989-28564990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7100983	chr10:28564991-28564992	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs368207936	chr10:28565018-28565019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372279052	chr10:28565053-28565054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7101006	chr10:28565063-28565064	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs113839738	chr10:28565138-28565139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530839451	chr10:28565180-28565181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537754300	chr10:28565207-28565208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191077607	chr10:28565231-28565232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138114132	chr10:28565250-28565251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528468853	chr10:28565267-28565268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181901885	chr10:28565333-28565334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568552267	chr10:28565354-28565355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536096548	chr10:28565365-28565366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs786691	chr10:28565413-28565414	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs568041192	chr10:28565436-28565437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537233393	chr10:28565449-28565450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs149454906	chr10:28565577-28565578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540134540	chr10:28565583-28565584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558130703	chr10:28565605-28565606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557058314	chr10:28565608-28565609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115720346	chr10:28565614-28565615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534294553	chr10:28565642-28565643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368727329	chr10:28565738-28565739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552681832	chr10:28565782-28565783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574194653	chr10:28565790-28565791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74232275	chr10:28565816-28565817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557129709	chr10:28565885-28565886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575314265	chr10:28565914-28565915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs397847611	chr10:28565919-28565920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs79011306	chr10:28565959-28565960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111299673	chr10:28565978-28565979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140377038	chr10:28565995-28565996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528529427	chr10:28566025-28566026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577222844	chr10:28566036-28566037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540623027	chr10:28566064-28566065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147499711	chr10:28566102-28566103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140089479	chr10:28566103-28566104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79878896	chr10:28566188-28566189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:44)

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
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:28550400-28582600	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr10:28553000-28570800	Weak transcription	Esophagus	oesophagus
3	chr10:28553200-28568400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr10:28553400-28569600	Weak transcription	Pancreas	Pancrea
5	chr10:28556200-28570800	Weak transcription	Primary B cells from cord blood	blood
6	chr10:28556400-28571000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr10:28557600-28567800	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr10:28557800-28568000	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr10:28558200-28568200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr10:28559600-28570800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr10:28560400-28567800	Weak transcription	Fetal Heart	heart
12	chr10:28562600-28570800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr10:28563400-28564800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr10:28563400-28565000	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr10:28563600-28564800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr10:28564000-28565200	Weak transcription	HepG2	liver
17	chr10:28564000-28573200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr10:28564200-28569400	Weak transcription	Colon Smooth Muscle	Colon
19	chr10:28564200-28573200	Weak transcription	Primary T cells from cord blood	blood
20	chr10:28564400-28570800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr10:28564600-28564800	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr10:28564800-28570800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr10:28564800-28572800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr10:28564800-28573000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr10:28565000-28571000	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr10:28565200-28566200	Enhancers	HepG2	liver
27	chr10:28565400-28568000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr10:28565800-28566200	Enhancers	Psoas Muscle	Psoas
29	chr10:28566200-28568000	Weak transcription	Psoas Muscle	Psoas
30	chr10:28566200-28571000	Weak transcription	HepG2	liver
31	chr10:28566400-28568000	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr10:28566600-28566800	Enhancers	Rectal Smooth Muscle	rectum
33	chr10:28566800-28573000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr10:28567800-28569200	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr10:28567800-28570200	Enhancers	Fetal Heart	heart
36	chr10:28568000-28568200	Enhancers	Fetal Muscle Leg	muscle
37	chr10:28568000-28568400	Enhancers	Right Ventricle	heart
38	chr10:28568000-28568400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr10:28568000-28568400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr10:28568000-28569000	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr10:28568000-28569200	Enhancers	Left Ventricle	heart
42	chr10:28568000-28569200	Enhancers	Psoas Muscle	Psoas
43	chr10:28568200-28568400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr10:28568200-28568800	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr10:28568200-28570800	Weak transcription	Fetal Muscle Leg	muscle
46	chr10:28568400-28568600	Enhancers	Stomach Smooth Muscle	stomach
47	chr10:28568400-28570600	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr10:28568400-28570800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr10:28568400-28570800	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr10:28568400-28573200	Weak transcription	Right Ventricle	heart

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