Variant report

Variant	nsv983023
Chromosome Location	chr11:55871572-55874547
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:245)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:55873851-55874029	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr11:55871838-55872012	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr11:55874387-55874549	MCF10A-Er-Src	breast:	n/a	n/a

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55872995-55873045	BE2_C	brain:	n/a
2	chr11:55872995-55873045	BE2_C	brain:	n/a
3	chr11:55872995-55873045	IMR90	lung:	fetal
4	chr11:55872467-55872517	HCPEpiC	choroid plexus:	n/a
5	chr11:55872467-55872517	BE2_C	brain:	n/a
6	chr11:55872467-55872517	AG04449	skin:	fetal
7	chr11:55872882-55872932	AG04450	lung:	fetal
8	chr11:55872467-55872517	NHDF-neo	bronchial:	n/a
9	chr11:55872467-55872517	HNPCEpiC	eye:	n/a
10	chr11:55872467-55872517	LNCaP	prostate:	n/a
11	chr11:55872995-55873045	Hepatocyte	liver:	n/a
12	chr11:55872467-55872517	HAEpiC	amniotic membrane:	n/a
13	chr11:55872467-55872517	HEK293	kidney:	embryo
14	chr11:55872882-55872932	PFSK-1	brain:	n/a
15	chr11:55872995-55873045	HEEpiC	esophagus:	n/a
16	chr11:55872478-55872528	SAEC	small airway:	n/a
17	chr11:55872478-55872528	HL-60	blood:	n/a
18	chr11:55872995-55873045	AG04449	skin:	fetal
19	chr11:55872995-55873045	NHBE	bronchial:	n/a
20	chr11:55872478-55872528	HCT-116	colon:	n/a
21	chr11:55872882-55872932	GM12891	blood:	n/a
22	chr11:55872995-55873045	ECC-1	luminal epithelium:	n/a
23	chr11:55872882-55872932	SK-N-MC	brain:	n/a
24	chr11:55872478-55872528	HAEpiC	amniotic membrane:	n/a
25	chr11:55872995-55873045	GM12892	blood:	n/a
26	chr11:55872882-55872932	SAEC	small airway:	n/a
27	chr11:55872478-55872528	GM06990	blood:	n/a
28	chr11:55872478-55872528	NH-A	brain:	n/a
29	chr11:55872995-55873045	NH-A	brain:	n/a
30	chr11:55872995-55873045	Hela-S3	cervix:	n/a
31	chr11:55872467-55872517	HCM	heart:	n/a
32	chr11:55872467-55872517	AG04450	lung:	fetal
33	chr11:55872882-55872932	Hela-S3	cervix:	n/a
34	chr11:55872882-55872932	NB4	blood:	n/a
35	chr11:55872995-55873045	BJ	skin:	n/a
36	chr11:55872995-55873045	AG04450	lung:	fetal
37	chr11:55872882-55872932	T-47D	breast:	n/a
38	chr11:55872995-55873045	HRPEpiC	eye:	n/a
39	chr11:55872478-55872528	AoSMC	blood vessel:	n/a
40	chr11:55872478-55872528	HUVEC	blood vessel:	n/a
41	chr11:55872995-55873045	HepG2	liver:	n/a
42	chr11:55872467-55872517	NB4	blood:	n/a
43	chr11:55872478-55872528	HEEpiC	esophagus:	n/a
44	chr11:55872882-55872932	CMK	blood:	n/a
45	chr11:55872467-55872517	SK-N-SH	brain:	n/a
46	chr11:55872467-55872517	HIPEpiC	eye:	n/a
47	chr11:55872995-55873045	SAEC	small airway:	n/a
48	chr11:55872467-55872517	HCF	heart:	n/a
49	chr11:55872478-55872528	RPTEC	kidney:	n/a
50	chr11:55872467-55872517	AG09319	gingival:	n/a

No data

Variant related genes	Relation type
OR8H2	TF binding region
OR8H2	CpG island

Extended variants
information (count: 15 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61887142	chr11:55871847-55871848	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs200428679	chr11:55871848-55871849	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs187294475	chr11:55871852-55871853	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs192970498	chr11:55871876-55871877	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs543312317	chr11:55871911-55871912	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs555276265	chr11:55871917-55871918	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs573198261	chr11:55871931-55871932	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs61887143	chr11:55871935-55871936	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs372222740	chr11:55871954-55871955	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs550210342	chr11:55872467-55872468	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs148653363	chr11:55872469-55872470	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs532405288	chr11:55872478-55872479	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs370837923	chr11:55872485-55872486	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs374348905	chr11:55872488-55872489	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs368197080	chr11:55872510-55872511	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:47)

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
Renal cell carcinoma	18194544	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	17142309	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	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

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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