Variant report

Variant	nsv947852
Chromosome Location	chr10:38281203-38283172
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:84)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:84 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:38281180-38281330	K562	blood:	n/a	n/a
2	CTCF	chr10:38281080-38281230	HMEC	breast:	n/a	n/a
3	CTCF	chr10:38281180-38281330	GM06990	blood:	n/a	n/a
4	CTCF	chr10:38281180-38281330	Caco-2	colon:	n/a	n/a
5	CTCF	chr10:38281180-38281330	MCF-7	breast:	n/a	n/a
6	CTCF	chr10:38281200-38281350	SK-N-SH_RA	brain:	n/a	n/a
7	CTCF	chr10:38281203-38281346	HepG2	liver:	n/a	n/a
8	CTCF	chr10:38281140-38281290	GM12874	blood:	n/a	n/a
9	CTCF	chr10:38281260-38281410	RPTEC	kidney:	n/a	n/a
10	CTCF	chr10:38281180-38281330	HFF	foreskin:	n/a	n/a
11	CTCF	chr10:38281197-38281319	GM13977	blood:	n/a	n/a
12	CTCF	chr10:38281140-38281290	HCT-116	colon:	n/a	n/a
13	CTCF	chr10:38281160-38281310	HEK293	kidney:	n/a	n/a
14	CTCF	chr10:38281240-38281390	SK-N-SH_RA	brain:	n/a	n/a
15	CTCF	chr10:38281160-38281310	RPTEC	kidney:	n/a	n/a
16	CTCF	chr10:38281140-38281290	BE2_C	brain:	n/a	n/a
17	CTCF	chr10:38281140-38281290	HMF	breast:	n/a	n/a
18	CTCF	chr10:38281160-38281310	GM12874	blood:	n/a	n/a
19	CTCF	chr10:38281177-38281339	MCF-7	breast:	n/a	n/a
20	CTCF	chr10:38281237-38281295	GM19240	blood:	n/a	n/a
21	CTCF	chr10:38281080-38281230	BE2_C	brain:	n/a	n/a
22	CTCF	chr10:38281140-38281290	GM12870	blood:	n/a	n/a
23	CTCF	chr10:38281160-38281310	HepG2	liver:	n/a	n/a
24	CTCF	chr10:38281120-38281270	HCPEpiC	choroid plexus:	n/a	n/a
25	CTCF	chr10:38281160-38281310	HVMF	connective:	n/a	n/a
26	CTCF	chr10:38281180-38281330	SAEC	small airway:	n/a	n/a
27	CTCF	chr10:38281159-38281383	K562	blood:	n/a	n/a
28	CTCF	chr10:38281220-38281370	WI-38	lung:	n/a	n/a
29	CTCF	chr10:38281230-38281279	Fibrobl	skin:	n/a	n/a
30	CTCF	chr10:38281140-38281290	AG09309	skin:	n/a	n/a
31	CTCF	chr10:38281255-38281300	MCF-7	breast:	n/a	n/a
32	CTCF	chr10:38281197-38281296	GM13976	blood:	n/a	n/a
33	CTCF	chr10:38281160-38281310	HCT-116	colon:	n/a	n/a
34	CTCF	chr10:38281180-38281330	GM12872	blood:	n/a	n/a
35	CTCF	chr10:38281180-38281330	GM12878	blood:	n/a	n/a
36	CTCF	chr10:38281245-38281274	Gliobla	brain:	n/a	n/a
37	CTCF	chr10:38281080-38281230	GM12872	blood:	n/a	n/a
38	CTCF	chr10:38281229-38281322	GM12892	blood:	n/a	n/a
39	CTCF	chr10:38281160-38281310	AoAF	blood vessel:	n/a	n/a
40	CTCF	chr10:38281140-38281290	HPAF	blood vessel:	n/a	n/a
41	CTCF	chr10:38281180-38281330	GM12873	blood:	n/a	n/a
42	CTCF	chr10:38281169-38281392	K562	blood:	n/a	n/a
43	CTCF	chr10:38281182-38281308	MCF-7	breast:	n/a	n/a
44	CTCF	chr10:38281180-38281330	BJ	skin:	n/a	n/a
45	CTCF	chr10:38281120-38281270	SAEC	small airway:	n/a	n/a
46	CTCF	chr10:38281241-38281298	MCF-7	breast:	n/a	n/a
47	CTCF	chr10:38281200-38281350	HCPEpiC	choroid plexus:	n/a	n/a
48	CTCF	chr10:38281210-38281395	IMR90	lung:	n/a	n/a
49	CTCF	chr10:38281220-38281370	NB4	blood:	n/a	n/a
50	CTCF	chr10:38281140-38281290	AG09319	gingival:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:38264108..38265731-chr10:38281599..38283532,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF33A-1	chr10:38281255-38281394	NONHSAT012800
2	lnc-ZNF33A-1	chr10:38281255-38281395	ENSG00000226447

No data

Variant related genes	Relation type
ENSG00000206840	TF binding region
ENSG00000175395	chromatin interactions

Extended variants
information (count: 73 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182781053	chr10:38281230-38281231	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs546714709	chr10:38281254-38281255	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs76846531	chr10:38281283-38281284	Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs79770688	chr10:38281284-38281285	Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs570747855	chr10:38281311-38281312	Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs533399824	chr10:38281313-38281314	Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs569481288	chr10:38281362-38281363	Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs58224236	chr10:38281370-38281371	Enhancers	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs138872984	chr10:38281419-38281420	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs535764345	chr10:38281449-38281450	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs16937648	chr10:38281614-38281615	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs371970102	chr10:38281667-38281668	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs573947132	chr10:38281679-38281680	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs542945862	chr10:38281697-38281698	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs183181923	chr10:38281713-38281714	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs576346575	chr10:38281761-38281762	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs377106334	chr10:38281780-38281781	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs374216848	chr10:38281798-38281799	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs533804635	chr10:38281831-38281832	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs118042631	chr10:38281916-38281917	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs564633991	chr10:38281947-38281948	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs533290207	chr10:38281951-38281952	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs147055851	chr10:38281954-38281955	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs560297369	chr10:38281984-38281985	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs199870661	chr10:38281985-38281986	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs151045211	chr10:38281986-38281987	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs376383087	chr10:38281987-38281988	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs187546656	chr10:38282014-38282015	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs573761140	chr10:38282027-38282028	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs138340464	chr10:38282038-38282039	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs569097920	chr10:38282116-38282117	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs538082286	chr10:38282167-38282168	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs542782063	chr10:38282245-38282246	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs2749576	chr10:38282255-38282256	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs551165830	chr10:38282283-38282284	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs11594192	chr10:38282327-38282328	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs575856857	chr10:38282339-38282340	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs11594193	chr10:38282344-38282345	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs553688255	chr10:38282348-38282349	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs573727526	chr10:38282354-38282355	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs536543097	chr10:38282385-38282386	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs369340717	chr10:38282397-38282398	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs556532846	chr10:38282411-38282412	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs111316159	chr10:38282430-38282431	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs545162357	chr10:38282441-38282442	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs564951649	chr10:38282467-38282468	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs578017337	chr10:38282496-38282497	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs540370834	chr10:38282564-38282565	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs560109088	chr10:38282567-38282568	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs529287057	chr10:38282569-38282570	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:40)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Lung cancer	21569311	CNVD
Colorectal cancer	20459617	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Central neurocytomas	17123091	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38280600-38281400	Enhancers	Dnd41	blood

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