Variant report

Variant	esv18235
Chromosome Location	chr11:5409794-5412609
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:102)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:102 , 50 per page) page: 1 2 3

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	chr11:5411580-5411730	HCPEpiC	choroid plexus:	n/a	n/a
3	CTCF	chr11:5411420-5411670	HFF	foreskin:	n/a	n/a
4	CTCF	chr11:5411500-5411650	AG04450	lung:	n/a	n/a
5	CTCF	chr11:5411600-5411750	BJ	skin:	n/a	n/a
6	CTCF	chr11:5411520-5411670	NB4	blood:	n/a	n/a
7	CTCF	chr11:5411580-5411730	HCT-116	colon:	n/a	n/a
8	CTCF	chr11:5411600-5411750	AoAF	blood vessel:	n/a	n/a
9	CTCF	chr11:5411520-5411670	GM12864	blood:	n/a	n/a
10	CTCF	chr11:5411560-5411710	HRE	kidney:	n/a	n/a
11	CTCF	chr11:5411580-5411730	HPF	lung:	n/a	n/a
12	CTCF	chr11:5411520-5411670	GM12873	blood:	n/a	n/a
13	CTCF	chr11:5411598-5411668	LNCaP	prostate:	n/a	n/a
14	CTCF	chr11:5411460-5411610	NHEK	skin:	n/a	n/a
15	CTCF	chr11:5411480-5411630	A549	lung:	n/a	n/a
16	CTCF	chr11:5411640-5411790	HAc	cerebellar:	n/a	n/a
17	CTCF	chr11:5411572-5411676	ProgFib	skin:	n/a	n/a
18	CTCF	chr11:5411540-5411690	AG04449	skin:	n/a	n/a
19	CTCF	chr11:5411580-5411730	HFF-Myc	foreskin:	n/a	n/a
20	CTCF	chr11:5411600-5411750	NHLF	lung:	n/a	n/a
21	CTCF	chr11:5411520-5411670	AG09309	skin:	n/a	n/a
22	CTCF	chr11:5411520-5411670	GM12872	blood:	n/a	n/a
23	CTCF	chr11:5411329-5411402	GM12891	blood:	n/a	n/a
24	CTCF	chr11:5411600-5411750	HUVEC	blood vessel:	n/a	n/a
25	CTCF	chr11:5411620-5411770	HVMF	connective:	n/a	n/a
26	CTCF	chr11:5411560-5411710	AG09319	gingival:	n/a	n/a
27	CTCF	chr11:5411517-5411750	GM12878	blood:	n/a	n/a
28	CTCF	chr11:5411324-5411363	GM19238	blood:	n/a	n/a
29	CTCF	chr11:5411540-5411690	GM12872	blood:	n/a	n/a
30	CTCF	chr11:5411500-5411650	GM12864	blood:	n/a	n/a
31	CTCF	chr11:5411540-5411690	HMF	breast:	n/a	n/a
32	CTCF	chr11:5411540-5411690	HPAF	blood vessel:	n/a	n/a
33	CTCF	chr11:5411540-5411690	GM12875	blood:	n/a	n/a
34	CTCF	chr11:5411540-5411690	GM12878	blood:	n/a	n/a
35	CTCF	chr11:5411540-5411690	GM12867	blood:	n/a	n/a
36	CTCF	chr11:5411480-5411630	GM12870	blood:	n/a	n/a
37	CTCF	chr11:5411420-5411570	NHLF	lung:	n/a	n/a
38	CTCF	chr11:5411520-5411670	GM12865	blood:	n/a	n/a
39	CTCF	chr11:5411500-5411650	HCFaa	heart:	n/a	n/a
40	CTCF	chr11:5411500-5411650	HAc	cerebellar:	n/a	n/a
41	CTCF	chr11:5411540-5411690	HepG2	liver:	n/a	n/a
42	CTCF	chr11:5411540-5411690	HEK293	kidney:	n/a	n/a
43	CTCF	chr11:5411580-5411730	AG10803	skin:	n/a	n/a
44	CTCF	chr11:5411500-5411650	GM12871	blood:	n/a	n/a
45	CTCF	chr11:5411520-5411670	HRE	kidney:	n/a	n/a
46	CTCF	chr11:5411560-5411710	HepG2	liver:	n/a	n/a
47	CTCF	chr11:5411508-5411809	K562	blood:	n/a	n/a
48	CTCF	chr11:5411560-5411710	HCPEpiC	choroid plexus:	n/a	n/a
49	CTCF	chr11:5411620-5411770	HCT-116	colon:	n/a	n/a
50	CTCF	chr11:5411560-5411710	HPF	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:5410452-5410502	HUVEC	blood vessel:	n/a
2	chr11:5410053-5410103	GM12891	blood:	n/a
3	chr11:5410452-5410502	HNPCEpiC	eye:	n/a
4	chr11:5410452-5410502	HL-60	blood:	n/a
5	chr11:5410053-5410103	NHBE	bronchial:	n/a
6	chr11:5410452-5410502	GM12878	blood:	n/a
7	chr11:5410053-5410103	AG04449	skin:	fetal
8	chr11:5410452-5410502	CMK	blood:	n/a
9	chr11:5410053-5410103	LNCaP	prostate:	n/a
10	chr11:5410053-5410103	Hela-S3	cervix:	n/a
11	chr11:5410053-5410103	SAEC	small airway:	n/a
12	chr11:5410053-5410103	HCT-116	colon:	n/a
13	chr11:5410053-5410103	ovcar-3	ovarian:	n/a
14	chr11:5410053-5410103	BJ	skin:	n/a
15	chr11:5410452-5410502	PANC-1	pancreas:	n/a
16	chr11:5410452-5410502	HEEpiC	esophagus:	n/a
17	chr11:5410452-5410502	SK-N-SH_RA	brain:	n/a
18	chr11:5410452-5410502	H1-hESC	embryonic stem cell:	embryo
19	chr11:5410053-5410103	K562	blood:	n/a
20	chr11:5410452-5410502	AG09309	skin:	n/a
21	chr11:5410053-5410103	U87	brain:	n/a
22	chr11:5410452-5410502	PrEC	prostate:	n/a
23	chr11:5410452-5410502	NH-A	brain:	n/a
24	chr11:5410053-5410103	AG04450	lung:	fetal
25	chr11:5410452-5410502	SKMC	muscle:	n/a
26	chr11:5410452-5410502	AG10803	skin:	n/a
27	chr11:5410452-5410502	AoSMC	blood vessel:	n/a
28	chr11:5410452-5410502	HRPEpiC	eye:	n/a
29	chr11:5410053-5410103	HUVEC	blood vessel:	n/a
30	chr11:5410053-5410103	PANC-1	pancreas:	n/a
31	chr11:5410053-5410103	H1-hESC	embryonic stem cell:	embryo
32	chr11:5410053-5410103	SKMC	muscle:	n/a
33	chr11:5410452-5410502	MCF-7	breast:	n/a
34	chr11:5410452-5410502	GM19239	blood:	n/a
35	chr11:5410452-5410502	U87	brain:	n/a
36	chr11:5410452-5410502	BJ	skin:	n/a
37	chr11:5410452-5410502	A549	lung:	n/a
38	chr11:5410452-5410502	HAEpiC	amniotic membrane:	n/a
39	chr11:5410452-5410502	NHBE	bronchial:	n/a
40	chr11:5410053-5410103	HL-60	blood:	n/a
41	chr11:5410452-5410502	LNCaP	prostate:	n/a
42	chr11:5410053-5410103	HepG2	liver:	n/a
43	chr11:5410053-5410103	NT2-D1	testis:	n/a
44	chr11:5410053-5410103	HRCEpiC	kidney:	n/a
45	chr11:5410053-5410103	HPAEpiC	pulmonary alveolar:	n/a
46	chr11:5410053-5410103	HAEpiC	amniotic membrane:	n/a
47	chr11:5410452-5410502	MCF10A-Er-Src	breast:	n/a
48	chr11:5410053-5410103	HMEC	breast:	n/a
49	chr11:5410053-5410103	CMK	blood:	n/a
50	chr11:5410452-5410502	NHDF-neo	bronchial:	n/a

No data

Variant related genes	Relation type
OR51M1	TF binding region
OR51M1	CpG island

Extended variants
information (count: 198 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:198 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2736534	chr11:5409807-5409808	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs75965010	chr11:5409810-5409811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547843775	chr11:5409813-5409814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559916125	chr11:5409821-5409822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76904186	chr11:5409823-5409824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548446620	chr11:5409827-5409828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6578628	chr11:5409837-5409838	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs183492868	chr11:5409842-5409843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555765210	chr11:5409859-5409860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148487385	chr11:5409881-5409882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570399535	chr11:5409910-5409911	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs77277106	chr11:5409920-5409921	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs7935053	chr11:5409934-5409935	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs199530278	chr11:5409945-5409946	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs200737360	chr11:5409946-5409947	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs574232473	chr11:5409962-5409963	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs536443958	chr11:5409971-5409972	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs150564490	chr11:5409981-5409982	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs538326067	chr11:5409989-5409990	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs558270176	chr11:5410054-5410055	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs578108141	chr11:5410060-5410061	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs10768903	chr11:5410095-5410096	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs544056226	chr11:5410098-5410099	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
24	rs565464785	chr11:5410102-5410103	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
25	rs2736533	chr11:5410103-5410104	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs188150882	chr11:5410132-5410133	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs559879068	chr11:5410147-5410148	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs34692475	chr11:5410164-5410165	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs573957443	chr11:5410193-5410194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530266134	chr11:5410197-5410198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2736532	chr11:5410253-5410254	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs377572449	chr11:5410254-5410255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7935438	chr11:5410289-5410290	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs552425675	chr11:5410296-5410297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570688806	chr11:5410315-5410316	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs7935520	chr11:5410334-5410335	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs7935524	chr11:5410339-5410340	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs567719515	chr11:5410350-5410351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535136362	chr11:5410377-5410378	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs79220377	chr11:5410388-5410389	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs34706812	chr11:5410396-5410397	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs11037184	chr11:5410415-5410416	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs377665410	chr11:5410417-5410418	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs190575046	chr11:5410444-5410445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147808057	chr11:5410453-5410454	Enhancers Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs544769841	chr11:5410509-5410510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76916051	chr11:5410511-5410512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs117048081	chr11:5410541-5410542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541413352	chr11:5410556-5410557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553358581	chr11:5410557-5410558	Enhancers Weak 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:14 , 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	chr11:5408600-5410000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr11:5408600-5410200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr11:5408800-5410600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr11:5409200-5410600	Weak transcription	K562	blood
9	chr11:5409600-5412200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:5410200-5410400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr11:5410600-5412600	Strong transcription	K562	blood
12	chr11:5411200-5411400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:5412200-5412400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:5412600-5415000	Weak transcription	K562	blood

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