Variant report

Variant	esv3473807
Chromosome Location	chr11:5806176-5811174
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:5809320-5809470	GM12866	blood:	n/a	n/a
2	MAZ	chr11:5810427-5810444	HepG2	liver:	n/a	n/a
3	MYC	chr11:5810776-5810791	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr11:5809416-5809559	Gliobla	brain:	n/a	n/a
5	POLR2A	chr11:5807000-5807153	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr11:5806597-5806735	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr11:5809517-5809715	A549	lung:	n/a	n/a
8	STAT3	chr11:5806022-5806220	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:5809911-5809961	HRCEpiC	kidney:	n/a
2	chr11:5809911-5809961	GM12878	blood:	n/a
3	chr11:5809911-5809961	SK-N-MC	brain:	n/a
4	chr11:5809911-5809961	SKMC	muscle:	n/a
5	chr11:5809911-5809961	NHDF-neo	bronchial:	n/a
6	chr11:5809911-5809961	HEK293	kidney:	embryo
7	chr11:5809911-5809961	SAEC	small airway:	n/a
8	chr11:5809911-5809961	GM12892	blood:	n/a
9	chr11:5809911-5809961	HMEC	breast:	n/a
10	chr11:5809911-5809961	T-47D	breast:	n/a
11	chr11:5809911-5809961	HCF	heart:	n/a
12	chr11:5809911-5809961	H1-hESC	embryonic stem cell:	embryo
13	chr11:5809911-5809961	AG09319	gingival:	n/a
14	chr11:5809911-5809961	HL-60	blood:	n/a
15	chr11:5809911-5809961	Hela-S3	cervix:	n/a
16	chr11:5809911-5809961	HCM	heart:	n/a
17	chr11:5809911-5809961	SK-N-SH	brain:	n/a
18	chr11:5809911-5809961	RPTEC	kidney:	n/a
19	chr11:5809911-5809961	IMR90	lung:	fetal
20	chr11:5809911-5809961	K562	blood:	n/a
21	chr11:5809911-5809961	HEEpiC	esophagus:	n/a
22	chr11:5809911-5809961	HRE	kidney:	n/a
23	chr11:5809911-5809961	ECC-1	luminal epithelium:	n/a
24	chr11:5809911-5809961	AG10803	skin:	n/a
25	chr11:5809911-5809961	AG04449	skin:	fetal
26	chr11:5809911-5809961	HCPEpiC	choroid plexus:	n/a
27	chr11:5809911-5809961	HPAEpiC	pulmonary alveolar:	n/a
28	chr11:5809911-5809961	HAEpiC	amniotic membrane:	n/a
29	chr11:5809911-5809961	PANC-1	pancreas:	n/a
30	chr11:5809911-5809961	BJ	skin:	n/a
31	chr11:5809911-5809961	A549	lung:	n/a
32	chr11:5809911-5809961	NHBE	bronchial:	n/a
33	chr11:5809911-5809961	Jurkat	blood:	n/a
34	chr11:5809911-5809961	NT2-D1	testis:	n/a
35	chr11:5809911-5809961	HUVEC	blood vessel:	n/a
36	chr11:5809911-5809961	MCF10A-Er-Src	breast:	n/a
37	chr11:5809911-5809961	GM12891	blood:	n/a
38	chr11:5809911-5809961	HIPEpiC	eye:	n/a
39	chr11:5809911-5809961	ovcar-3	ovarian:	n/a
40	chr11:5809911-5809961	CMK	blood:	n/a
41	chr11:5809911-5809961	PrEC	prostate:	n/a
42	chr11:5809911-5809961	SK-N-SH_RA	brain:	n/a
43	chr11:5809911-5809961	AG04450	lung:	fetal
44	chr11:5809911-5809961	AoSMC	blood vessel:	n/a
45	chr11:5809911-5809961	BE2_C	brain:	n/a
46	chr11:5809911-5809961	HCT-116	colon:	n/a
47	chr11:5809911-5809961	HRPEpiC	eye:	n/a
48	chr11:5809911-5809961	AG09309	skin:	n/a
49	chr11:5809911-5809961	MCF-7	breast:	n/a
50	chr11:5809911-5809961	HepG2	liver:	n/a

No data

Variant related genes	Relation type
OR52N1	TF binding region
OR52N1	CpG island

Extended variants
information (count: 30 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12794769	chr11:5809230-5809231	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79632520	chr11:5809241-5809242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562500737	chr11:5809243-5809244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147782763	chr11:5809244-5809245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11039036	chr11:5809248-5809249	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs201810252	chr11:5809280-5809281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200275481	chr11:5809281-5809282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368530180	chr11:5809282-5809283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35850861	chr11:5809288-5809289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368718813	chr11:5809302-5809303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7934670	chr11:5809308-5809309	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs372175646	chr11:5809339-5809340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375347086	chr11:5809340-5809341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548980477	chr11:5809341-5809342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146958510	chr11:5809354-5809355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368353863	chr11:5809395-5809396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139204244	chr11:5809396-5809397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11823184	chr11:5809405-5809406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375501780	chr11:5809439-5809440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147301110	chr11:5809455-5809456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140764863	chr11:5809456-5809457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10838637	chr11:5809477-5809478	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs115404910	chr11:5809531-5809532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371764761	chr11:5809540-5809541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7948009	chr11:5809548-5809549	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs149811568	chr11:5809569-5809570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376517982	chr11:5809590-5809591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs138814143	chr11:5809591-5809592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144740113	chr11:5809600-5809601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139243575	chr11:5810786-5810787	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
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
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	23613489	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5809200-5809600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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