Variant report

Variant	esv1851076
Chromosome Location	chr11:5884692-5934251
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:251)
CpG islands
(count:122)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:251 , 50 per page) page: 1 2 3 4 5 6

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	CEBPB	chr11:5921286-5921537	IMR90	lung:	n/a	chr11:5921407-5921420 chr11:5921407-5921420 chr11:5921407-5921418 chr11:5921407-5921418 chr11:5921407-5921420
5	CEBPB	chr11:5910666-5910889	IMR90	lung:	n/a	n/a
6	CEBPB	chr11:5921253-5921539	HepG2	liver:	n/a	chr11:5921407-5921420 chr11:5921407-5921420 chr11:5921407-5921418 chr11:5921407-5921418 chr11:5921407-5921420
7	CEBPB	chr11:5918399-5918459	IMR90	lung:	n/a	n/a
8	CHD2	chr11:5908965-5908994	HepG2	liver:	n/a	n/a
9	CTCF	chr11:5912520-5912670	HUVEC	blood vessel:	n/a	n/a
10	CTCF	chr11:5911440-5911590	SAEC	small airway:	n/a	chr11:5911551-5911559 chr11:5911550-5911558
11	CTCF	chr11:5911866-5913034	A549	lung:	n/a	n/a
12	CTCF	chr11:5912540-5912690	NHEK	skin:	n/a	n/a
13	CTCF	chr11:5912840-5912990	HBMEC	blood vessel:	n/a	n/a
14	CTCF	chr11:5912880-5913030	AG09319	gingival:	n/a	n/a
15	CTCF	chr11:5913016-5913092	LNCaP	prostate:	n/a	n/a
16	CTCF	chr11:5912520-5912670	GM12868	blood:	n/a	n/a
17	CTCF	chr11:5912765-5912766	Medullo	brain:	n/a	n/a
18	CTCF	chr11:5912420-5912570	HCT-116	colon:	n/a	n/a
19	CTCF	chr11:5912520-5912670	GM12871	blood:	n/a	n/a
20	CTCF	chr11:5912560-5912710	GM12869	blood:	n/a	n/a
21	CTCF	chr11:5912800-5912950	HepG2	liver:	n/a	n/a
22	CTCF	chr11:5912500-5912650	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr11:5912500-5912650	HFF-Myc	foreskin:	n/a	n/a
24	CTCF	chr11:5912848-5912861	Gliobla	brain:	n/a	n/a
25	CTCF	chr11:5912960-5913110	HRPEpiC	eye:	n/a	n/a
26	CTCF	chr11:5912580-5912730	HPF	lung:	n/a	n/a
27	CTCF	chr11:5912520-5912670	HEK293	kidney:	n/a	n/a
28	CTCF	chr11:5912540-5912690	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr11:5912540-5912690	HEEpiC	esophagus:	n/a	n/a
30	CTCF	chr11:5912500-5912650	GM12867	blood:	n/a	n/a
31	CTCF	chr11:5912520-5912670	HRPEpiC	eye:	n/a	n/a
32	CTCF	chr11:5912520-5912670	AG04449	skin:	n/a	n/a
33	CTCF	chr11:5912534-5912663	GM10248	blood:	n/a	n/a
34	CTCF	chr11:5912540-5912690	HepG2	liver:	n/a	n/a
35	CTCF	chr11:5912560-5912710	HRPEpiC	eye:	n/a	n/a
36	CTCF	chr11:5912540-5912690	AG09309	skin:	n/a	n/a
37	CTCF	chr11:5912856-5912947	GM12892	blood:	n/a	n/a
38	CTCF	chr11:5912828-5912860	GM19240	blood:	n/a	n/a
39	CTCF	chr11:5911940-5912090	HPAF	blood vessel:	n/a	n/a
40	CTCF	chr11:5912360-5912510	HAc	cerebellar:	n/a	n/a
41	CTCF	chr11:5912520-5912670	AG10803	skin:	n/a	n/a
42	CTCF	chr11:5912426-5912814	GM12878	blood:	n/a	n/a
43	CTCF	chr11:5912560-5912710	AoAF	blood vessel:	n/a	n/a
44	CTCF	chr11:5912560-5912710	HRE	kidney:	n/a	n/a
45	CTCF	chr11:5912452-5912787	IMR90	lung:	n/a	n/a
46	CTCF	chr11:5912520-5912670	HPAF	blood vessel:	n/a	n/a
47	CTCF	chr11:5912500-5912650	AG04449	skin:	n/a	n/a
48	CTCF	chr11:5912484-5912731	HepG2	liver:	n/a	n/a
49	CTCF	chr11:5912860-5913010	GM12873	blood:	n/a	n/a
50	CTCF	chr11:5912520-5912670	AoAF	blood vessel:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:5905350-5905400	CMK	blood:	n/a
2	chr11:5905892-5905942	PANC-1	pancreas:	n/a
3	chr11:5905350-5905400	HPAEpiC	pulmonary alveolar:	n/a
4	chr11:5905892-5905942	NHBE	bronchial:	n/a
5	chr11:5905350-5905400	LNCaP	prostate:	n/a
6	chr11:5905350-5905400	HRE	kidney:	n/a
7	chr11:5905350-5905400	BJ	skin:	n/a
8	chr11:5905892-5905942	NB4	blood:	n/a
9	chr11:5905350-5905400	HCF	heart:	n/a
10	chr11:5905350-5905400	NB4	blood:	n/a
11	chr11:5905350-5905400	NHBE	bronchial:	n/a
12	chr11:5905350-5905400	HUVEC	blood vessel:	n/a
13	chr11:5905892-5905942	HRE	kidney:	n/a
14	chr11:5905892-5905942	HRPEpiC	eye:	n/a
15	chr11:5905350-5905400	GM12891	blood:	n/a
16	chr11:5905892-5905942	ProgFib	skin:	n/a
17	chr11:5905892-5905942	GM19239	blood:	n/a
18	chr11:5905350-5905400	K562	blood:	n/a
19	chr11:5905350-5905400	PFSK-1	brain:	n/a
20	chr11:5905892-5905942	HCPEpiC	choroid plexus:	n/a
21	chr11:5905892-5905942	GM12878	blood:	n/a
22	chr11:5905892-5905942	LNCaP	prostate:	n/a
23	chr11:5905892-5905942	NHDF-neo	bronchial:	n/a
24	chr11:5905892-5905942	HCT-116	colon:	n/a
25	chr11:5905350-5905400	HCM	heart:	n/a
26	chr11:5905892-5905942	HAEpiC	amniotic membrane:	n/a
27	chr11:5905350-5905400	NH-A	brain:	n/a
28	chr11:5905892-5905942	SK-N-MC	brain:	n/a
29	chr11:5905892-5905942	T-47D	breast:	n/a
30	chr11:5905350-5905400	MCF10A-Er-Src	breast:	n/a
31	chr11:5905350-5905400	AG09319	gingival:	n/a
32	chr11:5905350-5905400	ovcar-3	ovarian:	n/a
33	chr11:5905350-5905400	HNPCEpiC	eye:	n/a
34	chr11:5905350-5905400	HEK293	kidney:	embryo
35	chr11:5905892-5905942	CMK	blood:	n/a
36	chr11:5905350-5905400	RPTEC	kidney:	n/a
37	chr11:5905892-5905942	Caco-2	colon:	n/a
38	chr11:5905350-5905400	SK-N-MC	brain:	n/a
39	chr11:5905350-5905400	HL-60	blood:	n/a
40	chr11:5905892-5905942	AG10803	skin:	n/a
41	chr11:5905892-5905942	AG09309	skin:	n/a
42	chr11:5905892-5905942	GM12892	blood:	n/a
43	chr11:5905892-5905942	AG04449	skin:	fetal
44	chr11:5905350-5905400	MCF-7	breast:	n/a
45	chr11:5905350-5905400	PANC-1	pancreas:	n/a
46	chr11:5905350-5905400	AoSMC	blood vessel:	n/a
47	chr11:5905892-5905942	Jurkat	blood:	n/a
48	chr11:5905350-5905400	IMR90	lung:	fetal
49	chr11:5905892-5905942	PFSK-1	brain:	n/a
50	chr11:5905350-5905400	HRCEpiC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:5913304..5915785-chr11:5921263..5923337,2	K562	blood:
2	chr11:5884568..5886582-chr11:5891480..5894269,2	K562	blood:
3	chr11:5913304..5915785-chr11:5921263..5923337,2	K562	blood:
4	chr11:5892127..5895108-chr11:5895655..5898478,2	K562	blood:
5	chr11:5497062..5497678-chr11:5912161..5912734,2	MCF-7	breast:
6	chr11:5829421..5830302-chr11:5912492..5913020,2	MCF-7	breast:
7	chr11:5887307..5889466-chr11:5893246..5895827,2	K562	blood:

No data

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

Extended variants
information (count: 577 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:577 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554778216	chr11:5884716-5884717	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs113523914	chr11:5884717-5884718	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs151313536	chr11:5884736-5884737	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs564809506	chr11:5884756-5884757	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs141879595	chr11:5884787-5884788	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs540658745	chr11:5884818-5884819	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs182111874	chr11:5884827-5884828	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs10769287	chr11:5884845-5884846	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs557293344	chr11:5884864-5884865	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs549285745	chr11:5884871-5884872	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs12416836	chr11:5884970-5884971	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs12416838	chr11:5884999-5885000	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs12417782	chr11:5885030-5885031	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs572783489	chr11:5885044-5885045	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs372223345	chr11:5885047-5885048	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs571646192	chr11:5885049-5885050	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs369919829	chr11:5885068-5885069	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs370991492	chr11:5885080-5885081	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs539133187	chr11:5885150-5885151	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs115306315	chr11:5885163-5885164	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs566103428	chr11:5885168-5885169	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs147078748	chr11:5885178-5885179	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs554890749	chr11:5885206-5885207	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs186755596	chr11:5885209-5885210	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs12785567	chr11:5885213-5885214	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs543239403	chr11:5885215-5885216	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs12416840	chr11:5885221-5885222	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs558759652	chr11:5885244-5885245	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs12417143	chr11:5885279-5885280	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs149710204	chr11:5885300-5885301	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs370091756	chr11:5885306-5885307	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs140488549	chr11:5885342-5885343	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs541121361	chr11:5885454-5885455	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs192454253	chr11:5885463-5885464	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs116471802	chr11:5885525-5885526	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs61613519	chr11:5885564-5885565	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs183443158	chr11:5885581-5885582	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs138462371	chr11:5885609-5885610	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs76765019	chr11:5885616-5885617	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs370872554	chr11:5885630-5885631	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs563641306	chr11:5885673-5885674	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs10219367	chr11:5885711-5885712	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs532472868	chr11:5885728-5885729	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs112474574	chr11:5885773-5885774	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs142565882	chr11:5885776-5885777	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs150218236	chr11:5885789-5885790	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs10219152	chr11:5885818-5885819	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs138846814	chr11:5885831-5885832	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs11039351	chr11:5885846-5885847	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs558418025	chr11:5885879-5885880	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 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

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