Variant report

Variant	nsv975107
Chromosome Location	chr11:48973895-48984531
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr11:48976068-48976336	GM12878	blood:	n/a	n/a
2	BATF	chr11:48976038-48976262	GM12878	blood:	n/a	n/a
3	BCL11A	chr11:48976050-48976264	GM12878	blood:	n/a	n/a
4	CTCF	chr11:48982255-48982371	GM10266	blood:	n/a	n/a
5	CTCF	chr11:48982340-48982500	Spleen_OC	spleen:	n/a	n/a
6	CTCF	chr11:48974337-48974362	GM10266	blood:	n/a	n/a
7	CTCF	chr11:48983139-48983172	GM13976	blood:	n/a	n/a
8	GATA2	chr11:48976480-48976766	K562	blood:	n/a	n/a
9	IRF4	chr11:48976003-48976334	GM12878	blood:	n/a	n/a
10	MAFK	chr11:48980470-48980670	HepG2	liver:	n/a	chr11:48980535-48980555 chr11:48980537-48980553 chr11:48980544-48980555
11	NR2F2	chr11:48976441-48976753	K562	blood:	n/a	n/a
12	NR2F2	chr11:48976531-48976793	K562	blood:	n/a	n/a
13	PAX5	chr11:48977868-48978090	GM12878	blood:	n/a	n/a
14	SPI1	chr11:48976076-48976296	GM12878	blood:	n/a	n/a
15	SPI1	chr11:48976019-48976304	GM12891	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:48977834-48977884	HEK293	kidney:	embryo
2	chr11:48977527-48977577	PrEC	prostate:	n/a
3	chr11:48977834-48977884	NT2-D1	testis:	n/a
4	chr11:48977834-48977884	GM12892	blood:	n/a
5	chr11:48977834-48977884	HCPEpiC	choroid plexus:	n/a
6	chr11:48977527-48977577	ECC-1	luminal epithelium:	n/a
7	chr11:48977834-48977884	Jurkat	blood:	n/a
8	chr11:48977527-48977577	Hepatocyte	liver:	n/a
9	chr11:48977834-48977884	HIPEpiC	eye:	n/a
10	chr11:48977834-48977884	HCF	heart:	n/a
11	chr11:48977834-48977884	HAEpiC	amniotic membrane:	n/a
12	chr11:48977527-48977577	NHDF-neo	bronchial:	n/a
13	chr11:48977527-48977577	Caco-2	colon:	n/a
14	chr11:48977834-48977884	GM06990	blood:	n/a
15	chr11:48977834-48977884	HepG2	liver:	n/a
16	chr11:48977527-48977577	HMEC	breast:	n/a
17	chr11:48977527-48977577	HRPEpiC	eye:	n/a
18	chr11:48977834-48977884	PANC-1	pancreas:	n/a
19	chr11:48977527-48977577	LNCaP	prostate:	n/a
20	chr11:48977834-48977884	HL-60	blood:	n/a
21	chr11:48977527-48977577	HCT-116	colon:	n/a
22	chr11:48977834-48977884	MCF10A-Er-Src	breast:	n/a
23	chr11:48977834-48977884	AG10803	skin:	n/a
24	chr11:48977527-48977577	GM12878	blood:	n/a
25	chr11:48977834-48977884	Hela-S3	cervix:	n/a
26	chr11:48977527-48977577	HRCEpiC	kidney:	n/a
27	chr11:48977834-48977884	MCF-7	breast:	n/a
28	chr11:48977527-48977577	AoSMC	blood vessel:	n/a
29	chr11:48977527-48977577	NB4	blood:	n/a
30	chr11:48977834-48977884	CMK	blood:	n/a
31	chr11:48977527-48977577	AG04449	skin:	fetal
32	chr11:48977834-48977884	GM19239	blood:	n/a
33	chr11:48977834-48977884	AG09319	gingival:	n/a
34	chr11:48977527-48977577	Jurkat	blood:	n/a
35	chr11:48977527-48977577	HCF	heart:	n/a
36	chr11:48977834-48977884	HNPCEpiC	eye:	n/a
37	chr11:48977834-48977884	IMR90	lung:	fetal
38	chr11:48977527-48977577	PANC-1	pancreas:	n/a
39	chr11:48977527-48977577	Hela-S3	cervix:	n/a
40	chr11:48977834-48977884	LNCaP	prostate:	n/a
41	chr11:48977527-48977577	CMK	blood:	n/a
42	chr11:48977527-48977577	HNPCEpiC	eye:	n/a
43	chr11:48977527-48977577	ovcar-3	ovarian:	n/a
44	chr11:48977527-48977577	HAEpiC	amniotic membrane:	n/a
45	chr11:48977527-48977577	HRE	kidney:	n/a
46	chr11:48977527-48977577	RPTEC	kidney:	n/a
47	chr11:48977527-48977577	SAEC	small airway:	n/a
48	chr11:48977834-48977884	RPTEC	kidney:	n/a
49	chr11:48977527-48977577	AG09319	gingival:	n/a
50	chr11:48977834-48977884	GM12878	blood:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC084851.1-2	chr11:48981480-48981636	NONHSAT021303
2	lnc-AC084851.1-2	chr11:48983254-48983362	NONHSAT021303
3	lnc-AC084851.1-2	chr11:48981775-48981855	NONHSAT021303
4	lnc-AC084851.1-2	chr11:48982485-48982577	NONHSAT021303

No data

Variant related genes	Relation type
ENSG00000254517	TF binding region
ENSG00000254517	CpG island

Extended variants
information (count: 102 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184677176	chr11:48976482-48976483	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs552448059	chr11:48976487-48976488	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs143349020	chr11:48976493-48976494	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs11040179	chr11:48976496-48976497	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs189703028	chr11:48976499-48976500	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs574467693	chr11:48976507-48976508	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs112320689	chr11:48976538-48976539	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs553695604	chr11:48976562-48976563	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs181263657	chr11:48976601-48976602	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs546168188	chr11:48976619-48976620	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs185677853	chr11:48976628-48976629	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs551416616	chr11:48976632-48976633	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs188973125	chr11:48976644-48976645	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs181847267	chr11:48976678-48976679	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs561308390	chr11:48976682-48976683	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs187667219	chr11:48976741-48976742	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs190698244	chr11:48976743-48976744	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs560359716	chr11:48976772-48976773	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs182992287	chr11:48976785-48976786	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs562116473	chr11:48977527-48977528	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs369784311	chr11:48977528-48977529	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs376550393	chr11:48977530-48977531	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
23	rs571301577	chr11:48977539-48977540	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
24	rs541794913	chr11:48977834-48977835	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
25	rs368926904	chr11:48977835-48977836	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
26	rs564752624	chr11:48977841-48977842	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs578240865	chr11:48977860-48977861	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
28	rs543424975	chr11:48977861-48977862	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
29	rs369131395	chr11:48977871-48977872	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
30	rs372609513	chr11:48977879-48977880	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
31	rs373975014	chr11:48977887-48977888	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs528993355	chr11:48977898-48977899	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs559169270	chr11:48977906-48977907	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs528247893	chr11:48977908-48977909	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs551297642	chr11:48977934-48977935	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs571224449	chr11:48977946-48977947	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs182215305	chr11:48977947-48977948	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs550154485	chr11:48977949-48977950	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs12799477	chr11:48977977-48977978	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs376582094	chr11:48977982-48977983	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs12799851	chr11:48978000-48978001	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs569912660	chr11:48978020-48978021	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs185905766	chr11:48978024-48978025	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs535988161	chr11:48978042-48978043	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs189893618	chr11:48978043-48978044	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs11040181	chr11:48978047-48978048	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs185798398	chr11:48978048-48978049	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs569996619	chr11:48978073-48978074	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs7937644	chr11:48978081-48978082	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs558351948	chr11:48978083-48978084	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:47)

Disease	PMID	Source
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	17426248	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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