Variant report

Variant	nsv947766
Chromosome Location	chr10:22513903-22515278
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:22514719-22514795	GM20000	blood:	n/a	n/a
2	POLR2A	chr10:22514757-22514763	A549	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:22514531-22514581	HNPCEpiC	eye:	n/a
2	chr10:22514531-22514581	AG04449	skin:	fetal
3	chr10:22514531-22514581	PrEC	prostate:	n/a
4	chr10:22514531-22514581	HUVEC	blood vessel:	n/a
5	chr10:22514531-22514581	HL-60	blood:	n/a
6	chr10:22514531-22514581	PANC-1	pancreas:	n/a
7	chr10:22514531-22514581	GM06990	blood:	n/a
8	chr10:22514531-22514581	HEK293	kidney:	embryo
9	chr10:22514531-22514581	HIPEpiC	eye:	n/a
10	chr10:22514531-22514581	IMR90	lung:	fetal
11	chr10:22514531-22514581	RPTEC	kidney:	n/a
12	chr10:22514531-22514581	A549	lung:	n/a
13	chr10:22514531-22514581	BJ	skin:	n/a
14	chr10:22514531-22514581	CMK	blood:	n/a
15	chr10:22514531-22514581	SAEC	small airway:	n/a
16	chr10:22514531-22514581	T-47D	breast:	n/a
17	chr10:22514531-22514581	H1-hESC	embryonic stem cell:	embryo
18	chr10:22514531-22514581	HCPEpiC	choroid plexus:	n/a
19	chr10:22514531-22514581	BE2_C	brain:	n/a
20	chr10:22514531-22514581	AoSMC	blood vessel:	n/a
21	chr10:22514531-22514581	ProgFib	skin:	n/a
22	chr10:22514531-22514581	Hepatocyte	liver:	n/a
23	chr10:22514531-22514581	LNCaP	prostate:	n/a
24	chr10:22514531-22514581	NHDF-neo	bronchial:	n/a
25	chr10:22514531-22514581	SK-N-SH_RA	brain:	n/a
26	chr10:22514531-22514581	PFSK-1	brain:	n/a
27	chr10:22514531-22514581	K562	blood:	n/a
28	chr10:22514531-22514581	NB4	blood:	n/a
29	chr10:22514531-22514581	SKMC	muscle:	n/a
30	chr10:22514531-22514581	HRE	kidney:	n/a
31	chr10:22514531-22514581	AG10803	skin:	n/a
32	chr10:22514531-22514581	HCT-116	colon:	n/a
33	chr10:22514531-22514581	HEEpiC	esophagus:	n/a
34	chr10:22514531-22514581	GM19239	blood:	n/a
35	chr10:22514531-22514581	SK-N-SH	brain:	n/a
36	chr10:22514531-22514581	HPAEpiC	pulmonary alveolar:	n/a
37	chr10:22514531-22514581	Caco-2	colon:	n/a
38	chr10:22514531-22514581	U87	brain:	n/a
39	chr10:22514531-22514581	AG09319	gingival:	n/a
40	chr10:22514531-22514581	HCM	heart:	n/a
41	chr10:22514531-22514581	HRPEpiC	eye:	n/a
42	chr10:22514531-22514581	HepG2	liver:	n/a
43	chr10:22514531-22514581	ovcar-3	ovarian:	n/a
44	chr10:22514531-22514581	HMEC	breast:	n/a
45	chr10:22514531-22514581	HRCEpiC	kidney:	n/a
46	chr10:22514531-22514581	GM12891	blood:	n/a
47	chr10:22514531-22514581	NT2-D1	testis:	n/a
48	chr10:22514531-22514581	MCF10A-Er-Src	breast:	n/a
49	chr10:22514531-22514581	Jurkat	blood:	n/a
50	chr10:22514531-22514581	MCF-7	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:22504057..22509886-chr10:22511644..22520139,13	K562	blood:
2	chr10:22515271..22520574-chr10:22601891..22607143,12	K562	blood:

No data

Variant related genes	Relation type
ENSG00000227462	TF binding region
ENSG00000227462	CpG island
ENSG00000269897	chromatin interactions
ENSG00000148444	chromatin interactions
ENSG00000260205	chromatin interactions

Extended variants
information (count: 41 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565944006	chr10:22513909-22513910	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs182626782	chr10:22513917-22513918	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs564296796	chr10:22513936-22513937	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs188023854	chr10:22513942-22513943	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs116407832	chr10:22513961-22513962	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs138544776	chr10:22514026-22514027	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs563649859	chr10:22514046-22514047	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs529332917	chr10:22514088-22514089	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs549400475	chr10:22514143-22514144	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs191851491	chr10:22514168-22514169	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs528784315	chr10:22514180-22514181	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs11012899	chr10:22514192-22514193	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs532780137	chr10:22514283-22514284	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs183980177	chr10:22514297-22514298	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs116199214	chr10:22514301-22514302	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs111342013	chr10:22514302-22514303	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs116888644	chr10:22514408-22514409	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs552795938	chr10:22514434-22514435	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs564627433	chr10:22514442-22514443	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs528682892	chr10:22514444-22514445	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs535389055	chr10:22514455-22514456	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs555074228	chr10:22514466-22514467	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs113610477	chr10:22514531-22514532	Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs189058146	chr10:22514534-22514535	Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs534934167	chr10:22514546-22514547	Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs192040290	chr10:22514577-22514578	Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs185622556	chr10:22514713-22514714	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs543928218	chr10:22514747-22514748	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs557977833	chr10:22514748-22514749	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs190532065	chr10:22514762-22514763	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs574059692	chr10:22514812-22514813	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs542960987	chr10:22514868-22514869	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs576226412	chr10:22514875-22514876	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs141610060	chr10:22515036-22515037	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs180862144	chr10:22515047-22515048	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs545322869	chr10:22515052-22515053	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs367834823	chr10:22515070-22515071	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs565136188	chr10:22515118-22515119	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs531051366	chr10:22515179-22515180	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs201621801	chr10:22515237-22515238	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs138781252	chr10:22515276-22515277	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:39)

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
Acute lymphoblastic leukemia	22237106	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	21525872	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22508600-22517800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links