Variant report

Variant	esv1846298
Chromosome Location	chr11:5410103-5431986
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:154)
CpG islands
(count:122)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:154 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:5410351-5410419	K562	blood:	n/a	n/a
2	CTCF	chr11:5411560-5411710	AG09319	gingival:	n/a	n/a
3	CTCF	chr11:5411480-5411630	RPTEC	kidney:	n/a	n/a
4	CTCF	chr11:5411680-5411830	A549	lung:	n/a	n/a
5	CTCF	chr11:5411600-5411750	AoAF	blood vessel:	n/a	n/a
6	CTCF	chr11:5411520-5411670	GM12874	blood:	n/a	n/a
7	CTCF	chr11:5411520-5411670	GM12865	blood:	n/a	n/a
8	CTCF	chr11:5411580-5411670	GM12878	blood:	n/a	n/a
9	CTCF	chr11:5411520-5411670	K562	blood:	n/a	n/a
10	CTCF	chr11:5411626-5411668	LNCaP	prostate:	n/a	n/a
11	CTCF	chr11:5411620-5411770	AG09319	gingival:	n/a	n/a
12	CTCF	chr11:5411580-5411730	HCPEpiC	choroid plexus:	n/a	n/a
13	CTCF	chr11:5411540-5411690	GM12875	blood:	n/a	n/a
14	CTCF	chr11:5411560-5411710	GM12873	blood:	n/a	n/a
15	CTCF	chr11:5411598-5411668	LNCaP	prostate:	n/a	n/a
16	CTCF	chr11:5411340-5411490	GM12866	blood:	n/a	n/a
17	CTCF	chr11:5411340-5411490	GM12871	blood:	n/a	n/a
18	CTCF	chr11:5411420-5411570	NHLF	lung:	n/a	n/a
19	CTCF	chr11:5411620-5411770	HCT-116	colon:	n/a	n/a
20	CTCF	chr11:5411540-5411690	HUVEC	blood vessel:	n/a	n/a
21	CTCF	chr11:5411600-5411750	GM06990	blood:	n/a	n/a
22	CTCF	chr11:5411500-5411650	HCFaa	heart:	n/a	n/a
23	CTCF	chr11:5411540-5411690	GM12871	blood:	n/a	n/a
24	CTCF	chr11:5411580-5411730	HCT-116	colon:	n/a	n/a
25	CTCF	chr11:5411540-5411690	HPAF	blood vessel:	n/a	n/a
26	CTCF	chr11:5411508-5411809	K562	blood:	n/a	n/a
27	CTCF	chr11:5411560-5411710	HMF	breast:	n/a	n/a
28	CTCF	chr11:5411540-5411690	HMF	breast:	n/a	n/a
29	CTCF	chr11:5411560-5411710	HBMEC	blood vessel:	n/a	n/a
30	CTCF	chr11:5411540-5411690	GM12867	blood:	n/a	n/a
31	CTCF	chr11:5411580-5411730	AG10803	skin:	n/a	n/a
32	CTCF	chr11:5411520-5411670	GM12872	blood:	n/a	n/a
33	CTCF	chr11:5411580-5411730	HPF	lung:	n/a	n/a
34	CTCF	chr11:5411620-5411770	HVMF	connective:	n/a	n/a
35	CTCF	chr11:5411540-5411690	GM06990	blood:	n/a	n/a
36	CTCF	chr11:5411600-5411750	NHLF	lung:	n/a	n/a
37	CTCF	chr11:5411520-5411670	AG09309	skin:	n/a	n/a
38	CTCF	chr11:5411540-5411690	HEK293	kidney:	n/a	n/a
39	CTCF	chr11:5411540-5411690	GM12878	blood:	n/a	n/a
40	CTCF	chr11:5411324-5411363	GM19238	blood:	n/a	n/a
41	CTCF	chr11:5411540-5411690	AG04450	lung:	n/a	n/a
42	CTCF	chr11:5411520-5411670	GM12864	blood:	n/a	n/a
43	CTCF	chr11:5411262-5411398	Fibrobl	skin:	n/a	n/a
44	CTCF	chr11:5411460-5411610	HFF-Myc	foreskin:	n/a	n/a
45	CTCF	chr11:5411500-5411650	GM12871	blood:	n/a	n/a
46	CTCF	chr11:5411587-5411677	HepG2	liver:	n/a	n/a
47	CTCF	chr11:5411560-5411710	HepG2	liver:	n/a	n/a
48	CTCF	chr11:5411420-5411670	HFF	foreskin:	n/a	n/a
49	CTCF	chr11:5411520-5411670	HRE	kidney:	n/a	n/a
50	CTCF	chr11:5411560-5411707	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:5410053-5410103	LNCaP	prostate:	n/a
2	chr11:5410053-5410103	MCF10A-Er-Src	breast:	n/a
3	chr11:5410053-5410103	U87	brain:	n/a
4	chr11:5410053-5410103	NB4	blood:	n/a
5	chr11:5410053-5410103	Hela-S3	cervix:	n/a
6	chr11:5410053-5410103	PrEC	prostate:	n/a
7	chr11:5410053-5410103	AG09319	gingival:	n/a
8	chr11:5410452-5410502	U87	brain:	n/a
9	chr11:5410452-5410502	AG09319	gingival:	n/a
10	chr11:5410452-5410502	MCF-7	breast:	n/a
11	chr11:5410452-5410502	AG10803	skin:	n/a
12	chr11:5410053-5410103	AG04449	skin:	fetal
13	chr11:5410452-5410502	HMEC	breast:	n/a
14	chr11:5410452-5410502	HUVEC	blood vessel:	n/a
15	chr11:5410452-5410502	AG04450	lung:	fetal
16	chr11:5410053-5410103	BJ	skin:	n/a
17	chr11:5410452-5410502	NT2-D1	testis:	n/a
18	chr11:5410452-5410502	NHDF-neo	bronchial:	n/a
19	chr11:5410452-5410502	CMK	blood:	n/a
20	chr11:5410053-5410103	NT2-D1	testis:	n/a
21	chr11:5410053-5410103	T-47D	breast:	n/a
22	chr11:5410452-5410502	IMR90	lung:	fetal
23	chr11:5410452-5410502	HCF	heart:	n/a
24	chr11:5410053-5410103	BE2_C	brain:	n/a
25	chr11:5410053-5410103	AG10803	skin:	n/a
26	chr11:5410053-5410103	HMEC	breast:	n/a
27	chr11:5410053-5410103	H1-hESC	embryonic stem cell:	embryo
28	chr11:5410053-5410103	HL-60	blood:	n/a
29	chr11:5410053-5410103	HCF	heart:	n/a
30	chr11:5410452-5410502	HepG2	liver:	n/a
31	chr11:5410452-5410502	SKMC	muscle:	n/a
32	chr11:5410053-5410103	Caco-2	colon:	n/a
33	chr11:5410452-5410502	AG04449	skin:	fetal
34	chr11:5410053-5410103	HCPEpiC	choroid plexus:	n/a
35	chr11:5410053-5410103	CMK	blood:	n/a
36	chr11:5410452-5410502	HCPEpiC	choroid plexus:	n/a
37	chr11:5410053-5410103	GM12892	blood:	n/a
38	chr11:5410053-5410103	SKMC	muscle:	n/a
39	chr11:5410452-5410502	H1-hESC	embryonic stem cell:	embryo
40	chr11:5410053-5410103	HRE	kidney:	n/a
41	chr11:5410452-5410502	HRPEpiC	eye:	n/a
42	chr11:5410053-5410103	SAEC	small airway:	n/a
43	chr11:5410452-5410502	SK-N-MC	brain:	n/a
44	chr11:5410053-5410103	GM19239	blood:	n/a
45	chr11:5410452-5410502	PFSK-1	brain:	n/a
46	chr11:5410452-5410502	HPAEpiC	pulmonary alveolar:	n/a
47	chr11:5410053-5410103	AG04450	lung:	fetal
48	chr11:5410452-5410502	Hepatocyte	liver:	n/a
49	chr11:5410053-5410103	ECC-1	luminal epithelium:	n/a
50	chr11:5410452-5410502	NB4	blood:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:5413872..5415694-chr11:5419975..5421750,2	K562	blood:
2	11:5243048-5250847..11:5425882-5426881	GM12878	blood:
3	chr11:5413872..5415694-chr11:5419975..5421750,2	K562	blood:
4	chr11:5415584..5416428-chr20:41864268..41865032,2	MCF-7	breast:
5	11:5218976-5222789..11:5425882-5426881	GM12878	blood:
6	11:4778081-4789138..11:5425882-5426881	H1-hESC	embryonic stem cell:	embryo
7	11:5421776-5424121..11:5425882-5426881	GM12878	blood:

No data

Variant related genes	Relation type
OR51M1	TF binding region
OR51J1	TF binding region
OR51M1	CpG island
OR51J1	CpG island
ENSG00000167346	chromatin interactions
ENSG00000221031	chromatin interactions
ENSG00000244734	chromatin interactions
ENSG00000184321	chromatin interactions
ENSG00000176742	chromatin interactions

Extended variants
information (count: 1225 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1225 , 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	rs2736533	chr11:5410103-5410104	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs188150882	chr11:5410132-5410133	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs559879068	chr11:5410147-5410148	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs34692475	chr11:5410164-5410165	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs573957443	chr11:5410193-5410194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530266134	chr11:5410197-5410198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2736532	chr11:5410253-5410254	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs377572449	chr11:5410254-5410255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7935438	chr11:5410289-5410290	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs552425675	chr11:5410296-5410297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570688806	chr11:5410315-5410316	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs7935520	chr11:5410334-5410335	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs7935524	chr11:5410339-5410340	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs567719515	chr11:5410350-5410351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535136362	chr11:5410377-5410378	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs79220377	chr11:5410388-5410389	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs34706812	chr11:5410396-5410397	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs11037184	chr11:5410415-5410416	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs377665410	chr11:5410417-5410418	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs190575046	chr11:5410444-5410445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147808057	chr11:5410453-5410454	Enhancers Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs544769841	chr11:5410509-5410510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76916051	chr11:5410511-5410512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs117048081	chr11:5410541-5410542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541413352	chr11:5410556-5410557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553358581	chr11:5410557-5410558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78839359	chr11:5410593-5410594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542309526	chr11:5410596-5410597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201225548	chr11:5410597-5410598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191692514	chr11:5410600-5410601	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372112594	chr11:5410602-5410603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376509486	chr11:5410616-5410617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530716323	chr11:5410623-5410624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545718875	chr11:5410634-5410635	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116535306	chr11:5410646-5410647	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139435494	chr11:5410649-5410650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373411483	chr11:5410668-5410669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74788140	chr11:5410676-5410677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567680788	chr11:5410679-5410680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527398159	chr11:5410681-5410682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527789187	chr11:5410703-5410704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369026430	chr11:5410729-5410730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs202127683	chr11:5410730-5410731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372517005	chr11:5410738-5410739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376532329	chr11:5410740-5410741	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371536682	chr11:5410741-5410742	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373301478	chr11:5410743-5410744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377377120	chr11:5410763-5410764	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182074434	chr11:5410769-5410770	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186800052	chr11:5410771-5410772	Weak transcription Strong transcription	n/a	n/a	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
Autism	20531469	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5406000-5410200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr11:5408400-5410200	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr11:5408400-5410200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr11:5408400-5410400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr11:5408600-5410200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr11:5408800-5410600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr11:5409200-5410600	Weak transcription	K562	blood
8	chr11:5409600-5412200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:5410200-5410400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr11:5410600-5412600	Strong transcription	K562	blood
11	chr11:5411200-5411400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:5412200-5412400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:5412600-5415000	Weak transcription	K562	blood
14	chr11:5415000-5417000	Strong transcription	K562	blood
15	chr11:5415800-5417000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:5417000-5417400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:5417000-5420000	Weak transcription	K562	blood
18	chr11:5417400-5420800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:5420000-5423000	Strong transcription	K562	blood
20	chr11:5420800-5421000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:5422000-5422200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:5423000-5424200	Weak transcription	K562	blood
23	chr11:5424200-5425800	Strong transcription	K562	blood
24	chr11:5425800-5432400	Weak transcription	K562	blood
25	chr11:5429600-5430000	Enhancers	Fetal Kidney	kidney

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