Variant report

Variant	nsv825917
Chromosome Location	chr11:57969751-57983804
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:366)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:57979845-57979917	GM20000	blood:	n/a	n/a
2	CTCF	chr11:57975011-57975083	GM13976	blood:	n/a	n/a
3	CTCF	chr11:57973759-57973816	LNCaP	prostate:	n/a	n/a
4	CTCF	chr11:57973054-57973159	GM13977	blood:	n/a	n/a
5	CTCF	chr11:57972688-57972773	GM20000	blood:	n/a	n/a
6	MAFK	chr11:57979584-57979623	IMR90	lung:	n/a	chr11:57979592-57979602 chr11:57979592-57979601
7	POLR2A	chr11:57979934-57979990	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr11:57980170-57980236	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:57982928-57983036	A549	lung:	n/a	n/a
10	POLR2A	chr11:57973445-57973583	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:57982825-57982832	A549	lung:	n/a	n/a
12	STAT3	chr11:57978028-57978212	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr11:57976949-57977017	MCF10A-Er-Src	breast:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:57981245-57981295	NH-A	brain:	n/a
2	chr11:57982664-57982714	GM12891	blood:	n/a
3	chr11:57982664-57982714	HL-60	blood:	n/a
4	chr11:57981267-57981317	AG10803	skin:	n/a
5	chr11:57972613-57972663	BE2_C	brain:	n/a
6	chr11:57981267-57981317	GM12891	blood:	n/a
7	chr11:57972613-57972663	BJ	skin:	n/a
8	chr11:57972613-57972663	IMR90	lung:	fetal
9	chr11:57971290-57971340	NB4	blood:	n/a
10	chr11:57981245-57981295	NB4	blood:	n/a
11	chr11:57981267-57981317	HCM	heart:	n/a
12	chr11:57971290-57971340	Hela-S3	cervix:	n/a
13	chr11:57971290-57971340	Jurkat	blood:	n/a
14	chr11:57981267-57981317	Caco-2	colon:	n/a
15	chr11:57972613-57972663	HMEC	breast:	n/a
16	chr11:57972167-57972217	PFSK-1	brain:	n/a
17	chr11:57972613-57972663	NHDF-neo	bronchial:	n/a
18	chr11:57981267-57981317	K562	blood:	n/a
19	chr11:57981267-57981317	HRPEpiC	eye:	n/a
20	chr11:57972613-57972663	HAEpiC	amniotic membrane:	n/a
21	chr11:57981245-57981295	BE2_C	brain:	n/a
22	chr11:57972613-57972663	GM12891	blood:	n/a
23	chr11:57971290-57971340	LNCaP	prostate:	n/a
24	chr11:57981245-57981295	HIPEpiC	eye:	n/a
25	chr11:57981245-57981295	GM06990	blood:	n/a
26	chr11:57982664-57982714	HepG2	liver:	n/a
27	chr11:57981267-57981317	GM12892	blood:	n/a
28	chr11:57981245-57981295	AG10803	skin:	n/a
29	chr11:57972613-57972663	SAEC	small airway:	n/a
30	chr11:57972167-57972217	HRCEpiC	kidney:	n/a
31	chr11:57972167-57972217	HEEpiC	esophagus:	n/a
32	chr11:57981245-57981295	AG04449	skin:	fetal
33	chr11:57982664-57982714	NB4	blood:	n/a
34	chr11:57981267-57981317	AG04450	lung:	fetal
35	chr11:57972167-57972217	Jurkat	blood:	n/a
36	chr11:57981267-57981317	HepG2	liver:	n/a
37	chr11:57972167-57972217	GM06990	blood:	n/a
38	chr11:57981245-57981295	RPTEC	kidney:	n/a
39	chr11:57981267-57981317	HCF	heart:	n/a
40	chr11:57972613-57972663	HCM	heart:	n/a
41	chr11:57981267-57981317	SK-N-SH_RA	brain:	n/a
42	chr11:57981245-57981295	Hela-S3	cervix:	n/a
43	chr11:57982664-57982714	HRPEpiC	eye:	n/a
44	chr11:57972613-57972663	AG04449	skin:	fetal
45	chr11:57981267-57981317	GM12878	blood:	n/a
46	chr11:57971290-57971340	HCM	heart:	n/a
47	chr11:57981267-57981317	MCF-7	breast:	n/a
48	chr11:57972167-57972217	H1-hESC	embryonic stem cell:	embryo
49	chr11:57972613-57972663	HEEpiC	esophagus:	n/a
50	chr11:57972613-57972663	PFSK-1	brain:	n/a

No data

Variant related genes	Relation type
OR1S1	TF binding region
OR1S2	TF binding region
OR1S1	CpG island
OR1S2	CpG island

Extended variants
information (count: 44 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543385591	chr11:57972168-57972169	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs373524021	chr11:57972170-57972171	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs190514966	chr11:57972171-57972172	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs370416127	chr11:57972173-57972174	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs375334388	chr11:57972177-57972178	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs576949160	chr11:57972205-57972206	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs534552118	chr11:57972211-57972212	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs142661926	chr11:57972614-57972615	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs559199096	chr11:57972623-57972624	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs577416533	chr11:57972660-57972661	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs541720923	chr11:57972663-57972664	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs565074347	chr11:57972763-57972764	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs191319969	chr11:57973056-57973057	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs558640147	chr11:57973073-57973074	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs182637310	chr11:57973094-57973095	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs534979781	chr11:57973103-57973104	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs553657671	chr11:57973123-57973124	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs528115246	chr11:57973447-57973448	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs372773657	chr11:57973470-57973471	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs546560702	chr11:57973487-57973488	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs112981961	chr11:57973521-57973522	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs115092279	chr11:57973543-57973544	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs566404816	chr11:57973575-57973576	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs1823593	chr11:57973775-57973776	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs553695273	chr11:57973778-57973779	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs575260246	chr11:57973807-57973808	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs568441754	chr11:57975081-57975082	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs71454322	chr11:57978086-57978087	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs543602821	chr11:57978121-57978122	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs568799024	chr11:57978135-57978136	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs565482216	chr11:57978140-57978141	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs532075409	chr11:57978147-57978148	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs547536998	chr11:57978164-57978165	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs565656908	chr11:57978181-57978182	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs190891907	chr11:57978184-57978185	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs11229285	chr11:57978198-57978199	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs188564286	chr11:57979894-57979895	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs116874947	chr11:57979946-57979947	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs185247717	chr11:57979958-57979959	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs11229290	chr11:57980175-57980176	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs562551161	chr11:57980203-57980204	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs369285889	chr11:57981246-57981247	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
43	rs186584668	chr11:57981267-57981268	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
44	rs570418875	chr11:57981278-57981279	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
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
Glioblastoma multiforme	21138945	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	21293372	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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