Variant report

Variant	esv3413726
Chromosome Location	chr11:71527724-71527903
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
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	BATF	chr11:71527794-71528002	GM12878	blood:	n/a	chr11:71527879-71527890
2	MAFK	chr11:71527879-71528075	HepG2	liver:	n/a	n/a
3	SETDB1	chr11:71527505-71527865	U2OS	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:71527895-71527945	HEEpiC	esophagus:	n/a
2	chr11:71527895-71527945	ovcar-3	ovarian:	n/a
3	chr11:71527895-71527945	RPTEC	kidney:	n/a
4	chr11:71527895-71527945	LNCaP	prostate:	n/a
5	chr11:71527895-71527945	NH-A	brain:	n/a
6	chr11:71527895-71527945	AG04450	lung:	fetal
7	chr11:71527895-71527945	H1-hESC	embryonic stem cell:	embryo
8	chr11:71527895-71527945	SAEC	small airway:	n/a
9	chr11:71527895-71527945	GM12878	blood:	n/a
10	chr11:71527895-71527945	HNPCEpiC	eye:	n/a
11	chr11:71527895-71527945	HCF	heart:	n/a
12	chr11:71527895-71527945	HRPEpiC	eye:	n/a
13	chr11:71527895-71527945	PFSK-1	brain:	n/a
14	chr11:71527895-71527945	GM06990	blood:	n/a
15	chr11:71527895-71527945	SKMC	muscle:	n/a
16	chr11:71527895-71527945	HRCEpiC	kidney:	n/a
17	chr11:71527895-71527945	T-47D	breast:	n/a
18	chr11:71527895-71527945	Jurkat	blood:	n/a
19	chr11:71527895-71527945	HIPEpiC	eye:	n/a
20	chr11:71527895-71527945	HUVEC	blood vessel:	n/a
21	chr11:71527895-71527945	GM19239	blood:	n/a
22	chr11:71527895-71527945	K562	blood:	n/a
23	chr11:71527895-71527945	HCT-116	colon:	n/a
24	chr11:71527895-71527945	PrEC	prostate:	n/a
25	chr11:71527895-71527945	GM12891	blood:	n/a
26	chr11:71527895-71527945	MCF10A-Er-Src	breast:	n/a
27	chr11:71527895-71527945	U87	brain:	n/a
28	chr11:71527895-71527945	ECC-1	luminal epithelium:	n/a
29	chr11:71527895-71527945	HEK293	kidney:	embryo
30	chr11:71527895-71527945	HL-60	blood:	n/a
31	chr11:71527895-71527945	NHDF-neo	bronchial:	n/a
32	chr11:71527895-71527945	NB4	blood:	n/a
33	chr11:71527895-71527945	HepG2	liver:	n/a
34	chr11:71527895-71527945	AG09319	gingival:	n/a
35	chr11:71527895-71527945	CMK	blood:	n/a
36	chr11:71527895-71527945	IMR90	lung:	fetal
37	chr11:71527895-71527945	Hepatocyte	liver:	n/a
38	chr11:71527895-71527945	BE2_C	brain:	n/a
39	chr11:71527895-71527945	ProgFib	skin:	n/a
40	chr11:71527895-71527945	AG09309	skin:	n/a
41	chr11:71527895-71527945	HPAEpiC	pulmonary alveolar:	n/a
42	chr11:71527895-71527945	SK-N-SH_RA	brain:	n/a
43	chr11:71527895-71527945	HAEpiC	amniotic membrane:	n/a
44	chr11:71527895-71527945	Caco-2	colon:	n/a
45	chr11:71527895-71527945	GM12892	blood:	n/a
46	chr11:71527895-71527945	A549	lung:	n/a
47	chr11:71527895-71527945	AoSMC	blood vessel:	n/a
48	chr11:71527895-71527945	SK-N-SH	brain:	n/a
49	chr11:71527895-71527945	AG10803	skin:	n/a
50	chr11:71527895-71527945	HCM	heart:	n/a

No data

Variant related genes	Relation type
ENSG00000248671	TF binding region
ENSG00000248671	CpG island

Extended variants
information (count: 11 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560022327	chr11:71527778-71527779	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs188265092	chr11:71527782-71527783	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs11235112	chr11:71527792-71527793	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
4	rs180837232	chr11:71527793-71527794	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs530770007	chr11:71527806-71527807	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs549370603	chr11:71527807-71527808	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs567623776	chr11:71527814-71527815	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs117799093	chr11:71527881-71527882	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs10898678	chr11:71527895-71527896	Inactive region	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs376969356	chr11:71527896-71527897	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs540371009	chr11:71527903-71527904	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	17142309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	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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