Variant report

Variant	nsv972029
Chromosome Location	chr11:55904655-55905468
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:55904745-55904803	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55904782-55904832	T-47D	breast:	n/a
2	chr11:55904782-55904832	MCF-7	breast:	n/a
3	chr11:55904782-55904832	U87	brain:	n/a
4	chr11:55905246-55905296	PANC-1	pancreas:	n/a
5	chr11:55905246-55905296	IMR90	lung:	fetal
6	chr11:55905246-55905296	NB4	blood:	n/a
7	chr11:55905246-55905296	PFSK-1	brain:	n/a
8	chr11:55904782-55904832	Caco-2	colon:	n/a
9	chr11:55904782-55904832	SK-N-MC	brain:	n/a
10	chr11:55905246-55905296	CMK	blood:	n/a
11	chr11:55904782-55904832	NHBE	bronchial:	n/a
12	chr11:55905246-55905296	BJ	skin:	n/a
13	chr11:55904782-55904832	H1-hESC	embryonic stem cell:	embryo
14	chr11:55904782-55904832	HPAEpiC	pulmonary alveolar:	n/a
15	chr11:55905246-55905296	AoSMC	blood vessel:	n/a
16	chr11:55905246-55905296	HEEpiC	esophagus:	n/a
17	chr11:55905246-55905296	SAEC	small airway:	n/a
18	chr11:55904782-55904832	GM12892	blood:	n/a
19	chr11:55904782-55904832	HCT-116	colon:	n/a
20	chr11:55905246-55905296	HNPCEpiC	eye:	n/a
21	chr11:55905246-55905296	HL-60	blood:	n/a
22	chr11:55905246-55905296	HRCEpiC	kidney:	n/a
23	chr11:55904782-55904832	ProgFib	skin:	n/a
24	chr11:55904782-55904832	GM06990	blood:	n/a
25	chr11:55905246-55905296	HRPEpiC	eye:	n/a
26	chr11:55905246-55905296	HCM	heart:	n/a
27	chr11:55904782-55904832	HRCEpiC	kidney:	n/a
28	chr11:55904782-55904832	PFSK-1	brain:	n/a
29	chr11:55904782-55904832	GM19239	blood:	n/a
30	chr11:55905246-55905296	Hela-S3	cervix:	n/a
31	chr11:55904782-55904832	HepG2	liver:	n/a
32	chr11:55905246-55905296	NHDF-neo	bronchial:	n/a
33	chr11:55905246-55905296	HCPEpiC	choroid plexus:	n/a
34	chr11:55905246-55905296	ProgFib	skin:	n/a
35	chr11:55905246-55905296	GM19239	blood:	n/a
36	chr11:55905246-55905296	NHBE	bronchial:	n/a
37	chr11:55905246-55905296	H1-hESC	embryonic stem cell:	embryo
38	chr11:55904782-55904832	AG04449	skin:	fetal
39	chr11:55904782-55904832	AG10803	skin:	n/a
40	chr11:55904782-55904832	AG09319	gingival:	n/a
41	chr11:55905246-55905296	HUVEC	blood vessel:	n/a
42	chr11:55904782-55904832	HCPEpiC	choroid plexus:	n/a
43	chr11:55904782-55904832	HMEC	breast:	n/a
44	chr11:55904782-55904832	LNCaP	prostate:	n/a
45	chr11:55905246-55905296	MCF10A-Er-Src	breast:	n/a
46	chr11:55905246-55905296	AG04449	skin:	fetal
47	chr11:55904782-55904832	SK-N-SH_RA	brain:	n/a
48	chr11:55905246-55905296	Jurkat	blood:	n/a
49	chr11:55904782-55904832	AG09309	skin:	n/a
50	chr11:55904782-55904832	K562	blood:	n/a

No data

Variant related genes	Relation type
OR8J3	TF binding region
OR5BN1P	TF binding region
OR8J3	CpG island
OR5BN1P	CpG island

Extended variants
information (count: 12 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1947923	chr11:55904751-55904752	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369307213	chr11:55904778-55904779	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs373232843	chr11:55904779-55904780	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs146251646	chr11:55904782-55904783	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs139290067	chr11:55904783-55904784	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs376757102	chr11:55904802-55904803	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs189377785	chr11:55904814-55904815	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs11227321	chr11:55904828-55904829	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs533978590	chr11:55904829-55904830	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs201535279	chr11:55904831-55904832	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs7936390	chr11:55904832-55904833	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs567493753	chr11:55905264-55905265	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:48)

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
Non-syndromic sensorineural hearing loss	18451855	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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