Variant report

Variant	esv1844052
Chromosome Location	chr11:5883162-5925140
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:244)
CpG islands
(count:122)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:244 , 50 per page) page: 1 2 3 4 5

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	chr11:5918399-5918459	IMR90	lung:	n/a	n/a
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	chr11:5921286-5921537	IMR90	lung:	n/a	chr11:5921407-5921420 chr11:5921407-5921420 chr11:5921407-5921418 chr11:5921407-5921418 chr11:5921407-5921420
8	CHD2	chr11:5908965-5908994	HepG2	liver:	n/a	n/a
9	CTCF	chr11:5912520-5912670	HVMF	connective:	n/a	n/a
10	CTCF	chr11:5912520-5912670	AG09309	skin:	n/a	n/a
11	CTCF	chr11:5912580-5912730	HMF	breast:	n/a	n/a
12	CTCF	chr11:5912580-5912730	GM06990	blood:	n/a	n/a
13	CTCF	chr11:5912580-5912730	SK-N-SH_RA	brain:	n/a	n/a
14	CTCF	chr11:5912540-5912690	HEEpiC	esophagus:	n/a	n/a
15	CTCF	chr11:5912380-5912530	HFF	foreskin:	n/a	n/a
16	CTCF	chr11:5911940-5912090	HPAF	blood vessel:	n/a	n/a
17	CTCF	chr11:5912620-5912770	WI-38	lung:	n/a	n/a
18	CTCF	chr11:5911440-5911590	SAEC	small airway:	n/a	chr11:5911551-5911559 chr11:5911550-5911558
19	CTCF	chr11:5913160-5913310	BJ	skin:	n/a	n/a
20	CTCF	chr11:5912580-5912730	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr11:5912580-5912730	GM12878	blood:	n/a	n/a
22	CTCF	chr11:5912640-5912790	NHLF	lung:	n/a	n/a
23	CTCF	chr11:5912632-5912670	Pancreas_OC	pancreas:	n/a	n/a
24	CTCF	chr11:5912520-5912670	BE2_C	brain:	n/a	n/a
25	CTCF	chr11:5912520-5912670	GM12868	blood:	n/a	n/a
26	CTCF	chr11:5912906-5912912	Gliobla	brain:	n/a	n/a
27	CTCF	chr11:5912560-5912710	AG10803	skin:	n/a	n/a
28	CTCF	chr11:5912560-5912710	GM12875	blood:	n/a	n/a
29	CTCF	chr11:5912926-5913005	Gliobla	brain:	n/a	n/a
30	CTCF	chr11:5912567-5912655	HepG2	liver:	n/a	n/a
31	CTCF	chr11:5912540-5912690	NHEK	skin:	n/a	n/a
32	CTCF	chr11:5912537-5912620	GM13976	blood:	n/a	n/a
33	CTCF	chr11:5912601-5912623	Pancreas_OC	pancreas:	n/a	n/a
34	CTCF	chr11:5912500-5912650	AG04449	skin:	n/a	n/a
35	CTCF	chr11:5912360-5912510	HAc	cerebellar:	n/a	n/a
36	CTCF	chr11:5912700-5912850	NB4	blood:	n/a	n/a
37	CTCF	chr11:5912560-5912710	AoAF	blood vessel:	n/a	n/a
38	CTCF	chr11:5912439-5912816	K562	blood:	n/a	n/a
39	CTCF	chr11:5912560-5912710	HA-sp	spinal cord:	n/a	n/a
40	CTCF	chr11:5912560-5912710	HUVEC	blood vessel:	n/a	n/a
41	CTCF	chr11:5912560-5912710	AG04450	lung:	n/a	n/a
42	CTCF	chr11:5912860-5913010	GM12864	blood:	n/a	n/a
43	CTCF	chr11:5912472-5912756	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr11:5912520-5912670	HEK293	kidney:	n/a	n/a
45	CTCF	chr11:5912802-5912984	GM19238	blood:	n/a	n/a
46	CTCF	chr11:5912484-5912731	HepG2	liver:	n/a	n/a
47	CTCF	chr11:5912580-5912730	HEEpiC	esophagus:	n/a	n/a
48	CTCF	chr11:5912620-5912770	HCM	heart:	n/a	n/a
49	CTCF	chr11:5912620-5912770	RPTEC	kidney:	n/a	n/a
50	CTCF	chr11:5912740-5912890	HA-sp	spinal cord:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:5905892-5905942	AG09309	skin:	n/a
2	chr11:5905892-5905942	HNPCEpiC	eye:	n/a
3	chr11:5905350-5905400	AG10803	skin:	n/a
4	chr11:5905892-5905942	Jurkat	blood:	n/a
5	chr11:5905350-5905400	HMEC	breast:	n/a
6	chr11:5905350-5905400	GM12891	blood:	n/a
7	chr11:5905892-5905942	HRE	kidney:	n/a
8	chr11:5905892-5905942	GM19239	blood:	n/a
9	chr11:5905350-5905400	MCF10A-Er-Src	breast:	n/a
10	chr11:5905350-5905400	SK-N-SH	brain:	n/a
11	chr11:5905892-5905942	HepG2	liver:	n/a
12	chr11:5905350-5905400	Caco-2	colon:	n/a
13	chr11:5905892-5905942	IMR90	lung:	fetal
14	chr11:5905350-5905400	SK-N-MC	brain:	n/a
15	chr11:5905350-5905400	MCF-7	breast:	n/a
16	chr11:5905892-5905942	GM12892	blood:	n/a
17	chr11:5905892-5905942	NT2-D1	testis:	n/a
18	chr11:5905350-5905400	PANC-1	pancreas:	n/a
19	chr11:5905892-5905942	SK-N-SH	brain:	n/a
20	chr11:5905350-5905400	HPAEpiC	pulmonary alveolar:	n/a
21	chr11:5905892-5905942	MCF10A-Er-Src	breast:	n/a
22	chr11:5905892-5905942	HMEC	breast:	n/a
23	chr11:5905892-5905942	GM12891	blood:	n/a
24	chr11:5905350-5905400	HEK293	kidney:	embryo
25	chr11:5905892-5905942	CMK	blood:	n/a
26	chr11:5905892-5905942	HPAEpiC	pulmonary alveolar:	n/a
27	chr11:5905350-5905400	HCT-116	colon:	n/a
28	chr11:5905350-5905400	Hela-S3	cervix:	n/a
29	chr11:5905892-5905942	RPTEC	kidney:	n/a
30	chr11:5905892-5905942	Hepatocyte	liver:	n/a
31	chr11:5905892-5905942	Hela-S3	cervix:	n/a
32	chr11:5905892-5905942	GM06990	blood:	n/a
33	chr11:5905892-5905942	A549	lung:	n/a
34	chr11:5905892-5905942	HCM	heart:	n/a
35	chr11:5905350-5905400	HCM	heart:	n/a
36	chr11:5905892-5905942	AG04449	skin:	fetal
37	chr11:5905350-5905400	HNPCEpiC	eye:	n/a
38	chr11:5905892-5905942	AG04450	lung:	fetal
39	chr11:5905350-5905400	GM12892	blood:	n/a
40	chr11:5905350-5905400	H1-hESC	embryonic stem cell:	embryo
41	chr11:5905350-5905400	ovcar-3	ovarian:	n/a
42	chr11:5905892-5905942	HL-60	blood:	n/a
43	chr11:5905892-5905942	BE2_C	brain:	n/a
44	chr11:5905350-5905400	PrEC	prostate:	n/a
45	chr11:5905892-5905942	LNCaP	prostate:	n/a
46	chr11:5905350-5905400	A549	lung:	n/a
47	chr11:5905892-5905942	ProgFib	skin:	n/a
48	chr11:5905350-5905400	HepG2	liver:	n/a
49	chr11:5905350-5905400	AG04450	lung:	fetal
50	chr11:5905892-5905942	HCPEpiC	choroid plexus:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:5887307..5889466-chr11:5893246..5895827,2	K562	blood:
2	chr11:5884568..5886582-chr11:5891480..5894269,2	K562	blood:
3	chr11:5877485..5879588-chr11:5881678..5883680,2	K562	blood:
4	chr11:5913304..5915785-chr11:5921263..5923337,2	K562	blood:
5	chr11:5829421..5830302-chr11:5912492..5913020,2	MCF-7	breast:
6	chr11:5497062..5497678-chr11:5912161..5912734,2	MCF-7	breast:
7	chr11:5913304..5915785-chr11:5921263..5923337,2	K562	blood:
8	chr11:5892127..5895108-chr11:5895655..5898478,2	K562	blood:

No data

Variant related genes	Relation type
OR52E4	TF binding region
TRIM5	TF binding region
OR52E8	TF binding region
OR52E7P	TF binding region
OR52E4	CpG island
TRIM5	CpG island
OR52E8	CpG island
OR52E7P	CpG island
ENSG00000233563	chromatin interactions
ENSG00000183269	chromatin interactions
ENSG00000132256	chromatin interactions

Extended variants
information (count: 492 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:492 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548922339	chr11:5883167-5883168	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs543264468	chr11:5883169-5883170	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs374623254	chr11:5883194-5883195	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs192156907	chr11:5883195-5883196	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs150795286	chr11:5883199-5883200	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs557701750	chr11:5883200-5883201	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs576036169	chr11:5883204-5883205	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs59560564	chr11:5883211-5883212	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs2880548	chr11:5883218-5883219	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs112525821	chr11:5883251-5883252	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs182236303	chr11:5883253-5883254	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs561722612	chr11:5883270-5883271	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs139414955	chr11:5883283-5883284	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs144082848	chr11:5883307-5883308	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs565023940	chr11:5883347-5883348	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs376550016	chr11:5883355-5883356	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs562419124	chr11:5883356-5883357	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs187616457	chr11:5883399-5883400	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs551542022	chr11:5883421-5883422	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs2880549	chr11:5883446-5883447	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs527332213	chr11:5883465-5883466	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs540871102	chr11:5883488-5883489	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs35192619	chr11:5883524-5883525	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs567235128	chr11:5883540-5883541	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs192592437	chr11:5883547-5883548	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs549849480	chr11:5883553-5883554	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs569525450	chr11:5883555-5883556	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs184263620	chr11:5883594-5883595	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs34041797	chr11:5883616-5883617	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs535638306	chr11:5883623-5883624	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs116077171	chr11:5883624-5883625	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs376772253	chr11:5883625-5883626	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs534267382	chr11:5883630-5883631	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs192903957	chr11:5883664-5883665	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs538634274	chr11:5884597-5884598	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs7946516	chr11:5884604-5884605	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs572329192	chr11:5884613-5884614	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs542947690	chr11:5884643-5884644	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs372480135	chr11:5884685-5884686	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs554778216	chr11:5884716-5884717	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs113523914	chr11:5884717-5884718	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs151313536	chr11:5884736-5884737	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs564809506	chr11:5884756-5884757	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs141879595	chr11:5884787-5884788	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs540658745	chr11:5884818-5884819	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs182111874	chr11:5884827-5884828	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs10769287	chr11:5884845-5884846	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs557293344	chr11:5884864-5884865	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs549285745	chr11:5884871-5884872	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs12416836	chr11:5884970-5884971	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:63)

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

Chromatin state (count:6 , 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

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