Variant report

Variant	esv1843612
Chromosome Location	chr11:5886246-5967747
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:373)
CpG islands
(count:1528)
Chromatin interactive
region (count:10)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:373 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:5912497-5912707	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:5912394-5912741	K562	blood:	n/a	n/a
3	ATF1	chr11:5893901-5893919	K562	blood:	n/a	n/a
4	BACH1	chr11:5949537-5949904	K562	blood:	n/a	n/a
5	BACH1	chr11:5949390-5949949	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr11:5959067-5959439	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr11:5959190-5959403	K562	blood:	n/a	n/a
8	BATF	chr11:5944337-5944642	GM12878	blood:	n/a	chr11:5944501-5944512
9	BATF	chr11:5944353-5944624	GM12878	blood:	n/a	chr11:5944501-5944512
10	BCL11A	chr11:5944350-5944565	GM12878	blood:	n/a	n/a
11	CEBPB	chr11:5910666-5910889	IMR90	lung:	n/a	n/a
12	CEBPB	chr11:5918399-5918459	IMR90	lung:	n/a	n/a
13	CEBPB	chr11:5921286-5921537	IMR90	lung:	n/a	chr11:5921407-5921420 chr11:5921407-5921420 chr11:5921407-5921418 chr11:5921407-5921418 chr11:5921407-5921420
14	CEBPB	chr11:5945178-5945285	K562	blood:	n/a	n/a
15	CEBPB	chr11:5921253-5921539	HepG2	liver:	n/a	chr11:5921407-5921420 chr11:5921407-5921420 chr11:5921407-5921418 chr11:5921407-5921418 chr11:5921407-5921420
16	CHD2	chr11:5908965-5908994	HepG2	liver:	n/a	n/a
17	CTCF	chr11:5912915-5913006	GM13977	blood:	n/a	n/a
18	CTCF	chr11:5912601-5912623	Pancreas_OC	pancreas:	n/a	n/a
19	CTCF	chr11:5912920-5913070	GM12864	blood:	n/a	n/a
20	CTCF	chr11:5912580-5912730	MCF-7	breast:	n/a	n/a
21	CTCF	chr11:5912520-5912670	AG10803	skin:	n/a	n/a
22	CTCF	chr11:5912812-5912822	GM19240	blood:	n/a	n/a
23	CTCF	chr11:5912520-5912670	HVMF	connective:	n/a	n/a
24	CTCF	chr11:5912640-5912790	HCM	heart:	n/a	n/a
25	CTCF	chr11:5912360-5912510	HAc	cerebellar:	n/a	n/a
26	CTCF	chr11:5912540-5912690	HCPEpiC	choroid plexus:	n/a	n/a
27	CTCF	chr11:5912540-5912690	HCFaa	heart:	n/a	n/a
28	CTCF	chr11:5912820-5912970	K562	blood:	n/a	n/a
29	CTCF	chr11:5912620-5912770	WI-38	lung:	n/a	n/a
30	CTCF	chr11:5912500-5912650	HL-60	blood:	n/a	n/a
31	CTCF	chr11:5912500-5912650	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr11:5912540-5912690	GM12866	blood:	n/a	n/a
33	CTCF	chr11:5912848-5912861	Gliobla	brain:	n/a	n/a
34	CTCF	chr11:5912640-5912790	HAc	cerebellar:	n/a	n/a
35	CTCF	chr11:5912519-5912693	LNCaP	prostate:	n/a	n/a
36	CTCF	chr11:5912560-5912710	NHDF-neo	bronchial:	n/a	n/a
37	CTCF	chr11:5912580-5912730	BJ	skin:	n/a	n/a
38	CTCF	chr11:5912720-5912870	GM12870	blood:	n/a	n/a
39	CTCF	chr11:5949811-5949883	Fibrobl	skin:	n/a	n/a
40	CTCF	chr11:5912520-5912670	HEK293	kidney:	n/a	n/a
41	CTCF	chr11:5912580-5912730	RPTEC	kidney:	n/a	n/a
42	CTCF	chr11:5912469-5912763	K562	blood:	n/a	n/a
43	CTCF	chr11:5903547-5903571	ProgFib	skin:	n/a	n/a
44	CTCF	chr11:5913016-5913092	LNCaP	prostate:	n/a	n/a
45	CTCF	chr11:5912520-5912670	GM12871	blood:	n/a	n/a
46	CTCF	chr11:5912829-5912848	GM12892	blood:	n/a	n/a
47	CTCF	chr11:5958281-5958366	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr11:5912820-5912970	AG04449	skin:	n/a	n/a
49	CTCF	chr11:5912560-5912710	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr11:5912860-5913010	GM12864	blood:	n/a	n/a

(count:1528 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:5951048-5951098	HNPCEpiC	eye:	n/a
2	chr11:5958221-5958271	K562	blood:	n/a
3	chr11:5956787-5956837	HUVEC	blood vessel:	n/a
4	chr11:5951048-5951098	HNPCEpiC	eye:	n/a
5	chr11:5958221-5958271	K562	blood:	n/a
6	chr11:5956787-5956837	HUVEC	blood vessel:	n/a
7	chr11:5905892-5905942	HPAEpiC	pulmonary alveolar:	n/a
8	chr11:5956787-5956837	HCPEpiC	choroid plexus:	n/a
9	chr11:5956586-5956636	SK-N-SH_RA	brain:	n/a
10	chr11:5960015-5960065	SK-N-SH_RA	brain:	n/a
11	chr11:5960081-5960131	Caco-2	colon:	n/a
12	chr11:5951956-5952006	BJ	skin:	n/a
13	chr11:5951048-5951098	HCM	heart:	n/a
14	chr11:5950357-5950407	PANC-1	pancreas:	n/a
15	chr11:5959945-5959995	A549	lung:	n/a
16	chr11:5949877-5949927	MCF10A-Er-Src	breast:	n/a
17	chr11:5958221-5958271	Caco-2	colon:	n/a
18	chr11:5949877-5949927	RPTEC	kidney:	n/a
19	chr11:5959945-5959995	AG04450	lung:	fetal
20	chr11:5905350-5905400	Hela-S3	cervix:	n/a
21	chr11:5960213-5960263	HUVEC	blood vessel:	n/a
22	chr11:5957864-5957914	HEK293	kidney:	embryo
23	chr11:5959945-5959995	CMK	blood:	n/a
24	chr11:5951316-5951366	A549	lung:	n/a
25	chr11:5950357-5950407	GM12878	blood:	n/a
26	chr11:5959658-5959708	HMEC	breast:	n/a
27	chr11:5959923-5959973	BJ	skin:	n/a
28	chr11:5949877-5949927	GM12891	blood:	n/a
29	chr11:5905892-5905942	SK-N-MC	brain:	n/a
30	chr11:5951316-5951366	AG09309	skin:	n/a
31	chr11:5949877-5949927	NB4	blood:	n/a
32	chr11:5951048-5951098	AoSMC	blood vessel:	n/a
33	chr11:5951360-5951410	SK-N-SH	brain:	n/a
34	chr11:5952089-5952139	CMK	blood:	n/a
35	chr11:5959658-5959708	CMK	blood:	n/a
36	chr11:5950798-5950848	HEK293	kidney:	embryo
37	chr11:5951956-5952006	HRCEpiC	kidney:	n/a
38	chr11:5960081-5960131	SKMC	muscle:	n/a
39	chr11:5949877-5949927	HIPEpiC	eye:	n/a
40	chr11:5956787-5956837	HCT-116	colon:	n/a
41	chr11:5959945-5959995	AG09309	skin:	n/a
42	chr11:5949877-5949927	CMK	blood:	n/a
43	chr11:5951433-5951483	NT2-D1	testis:	n/a
44	chr11:5956586-5956636	HL-60	blood:	n/a
45	chr11:5958221-5958271	SK-N-MC	brain:	n/a
46	chr11:5951316-5951366	Hela-S3	cervix:	n/a
47	chr11:5951833-5951883	HAEpiC	amniotic membrane:	n/a
48	chr11:5959658-5959708	PFSK-1	brain:	n/a
49	chr11:5951956-5952006	HUVEC	blood vessel:	n/a
50	chr11:5967520-5967570	AG09319	gingival:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:5829421..5830302-chr11:5912492..5913020,2	MCF-7	breast:
2	chr11:5950724..5952240-chr7:153107809..153110032,4	K562	blood:
3	chr11:5950723..5952254-chr7:153108526..153111145,2	K562	blood:
4	chr11:5913304..5915785-chr11:5921263..5923337,2	K562	blood:
5	chr11:5497062..5497678-chr11:5912161..5912734,2	MCF-7	breast:
6	chr11:5884568..5886582-chr11:5891480..5894269,2	K562	blood:
7	chr11:5887307..5889466-chr11:5893246..5895827,2	K562	blood:
8	chr11:5892127..5895108-chr11:5895655..5898478,2	K562	blood:
9	chr11:5913304..5915785-chr11:5921263..5923337,2	K562	blood:
10	chr11:5952222..5953725-chr7:153106291..153108525,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR56A3-1	chr11:5959981-5960217	ENSG00000255257
2	lnc-OR56A3-1	chr11:5966036-5966214	ENSG00000255257
3	lnc-OR56A3-1	chr11:5964560-5964716	ENSG00000255257

No data

Variant related genes	Relation type
OR52E7P	TF binding region
ENSG00000255257	TF binding region
OR52E4	TF binding region
OR56A3	TF binding region
TRIM5	TF binding region
OR52E7P	CpG island
ENSG00000255257	CpG island
OR52E4	CpG island
OR56A3	CpG island
TRIM5	CpG island
ENSG00000233563	chromatin interactions
ENSG00000234722	chromatin interactions
ENSG00000132256	chromatin interactions

Extended variants
information (count: 1216 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1216 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10838750	chr11:5886246-5886247	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs192821005	chr11:5886275-5886276	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs138095514	chr11:5886277-5886278	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs534794520	chr11:5886278-5886279	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs142649209	chr11:5886288-5886289	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs567805491	chr11:5886294-5886295	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs535179926	chr11:5886296-5886297	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs146038966	chr11:5886297-5886298	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs575212175	chr11:5886306-5886307	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs139918784	chr11:5886324-5886325	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs1597970	chr11:5886328-5886329	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs1597969	chr11:5886363-5886364	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs142189164	chr11:5886397-5886398	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs113709727	chr11:5886426-5886427	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs543200659	chr11:5886463-5886464	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs530167924	chr11:5886482-5886483	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs185338692	chr11:5886483-5886484	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs77093580	chr11:5886489-5886490	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs530916390	chr11:5886490-5886491	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs552316226	chr11:5886492-5886493	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs570721829	chr11:5886543-5886544	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs189452725	chr11:5886547-5886548	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs117309710	chr11:5887322-5887323	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs368056025	chr11:5887353-5887354	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs71468073	chr11:5887357-5887358	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs369521946	chr11:5887358-5887359	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs386750228	chr11:5887359-5887360	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs118039943	chr11:5887361-5887362	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs199838134	chr11:5887363-5887364	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs553236748	chr11:5887364-5887365	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs376569891	chr11:5887365-5887366	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs550712803	chr11:5887367-5887368	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs12787675	chr11:5887377-5887378	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs201059097	chr11:5887393-5887394	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs199871136	chr11:5887394-5887395	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs200671990	chr11:5887395-5887396	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs397690160	chr11:5887400-5887401	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs533021053	chr11:5887431-5887432	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs147757396	chr11:5887439-5887440	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs374076938	chr11:5887450-5887451	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs566603514	chr11:5887451-5887452	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs533744763	chr11:5887462-5887463	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs149188794	chr11:5887517-5887518	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs568760180	chr11:5887528-5887529	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs76437362	chr11:5887550-5887551	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs7930240	chr11:5887570-5887571	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs190681075	chr11:5887599-5887600	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs540059918	chr11:5887644-5887645	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs557949693	chr11:5887652-5887653	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs372964247	chr11:5887665-5887666	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Pancreatic cancer	23613489	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Type 2 diabetes	21526130	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5920600-5921200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr11:5920800-5921200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr11:5920800-5921200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:5920800-5921200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:5920800-5921400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr11:5924800-5927600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:5927600-5927800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:5944000-5944600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:5944000-5944600	Enhancers	A549	lung
10	chr11:5944000-5944800	Enhancers	GM12878-XiMat	blood
11	chr11:5944000-5945000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:5944000-5945200	Enhancers	NHEK	skin
13	chr11:5944000-5945400	Enhancers	HMEC	breast
14	chr11:5944200-5945000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:5950800-5951600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:5952000-5953000	ZNF genes & repeats	Pancreas	Pancrea
17	chr11:5952800-5959000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:5959000-5959400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:5959000-5960600	ZNF genes & repeats	Placenta	Placenta
20	chr11:5959400-5962000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:5960600-5961000	Enhancers	Placenta	Placenta

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