Variant report

Variant	esv2757445
Chromosome Location	chr11:55339702-55638112
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr11:55425450-55425874	GM12878	blood:	n/a	n/a
2	BATF	chr11:55627814-55628095	GM12878	blood:	n/a	n/a
3	BATF	chr11:55425431-55426129	GM12878	blood:	n/a	n/a
4	BATF	chr11:55634940-55635308	GM12878	blood:	n/a	chr11:55635206-55635216
5	BATF	chr11:55627832-55628094	GM12878	blood:	n/a	n/a
6	BATF	chr11:55426940-55427106	GM12878	blood:	n/a	chr11:55427071-55427081
7	BATF	chr11:55425468-55425815	GM12878	blood:	n/a	n/a
8	BATF	chr11:55634919-55635279	GM12878	blood:	n/a	chr11:55635206-55635216
9	BCL11A	chr11:55634987-55635226	GM12878	blood:	n/a	n/a
10	BCL11A	chr11:55425496-55426197	GM12878	blood:	n/a	n/a
11	BCL11A	chr11:55425504-55425830	GM12878	blood:	n/a	n/a
12	BHLHE40	chr11:55425502-55426161	GM12878	blood:	n/a	n/a
13	BHLHE40	chr11:55427039-55427080	GM12878	blood:	n/a	n/a
14	BHLHE40	chr11:55634894-55635260	GM12878	blood:	n/a	chr11:55635049-55635062 chr11:55634927-55634943
15	CCNT2	chr11:55598241-55598440	K562	blood:	n/a	n/a
16	CEBPB	chr11:55531894-55532015	HepG2	liver:	n/a	n/a
17	CEBPB	chr11:55436863-55437223	HepG2	liver:	n/a	chr11:55437045-55437056
18	CEBPB	chr11:55397950-55398078	A549	lung:	n/a	n/a
19	CEBPB	chr11:55535621-55535901	HepG2	liver:	n/a	chr11:55535727-55535738
20	CEBPB	chr11:55567767-55568076	HepG2	liver:	n/a	chr11:55567868-55567879 chr11:55567908-55567919
21	CEBPB	chr11:55436866-55437227	IMR90	lung:	n/a	chr11:55437045-55437056
22	CEBPB	chr11:55397830-55398153	IMR90	lung:	n/a	n/a
23	CEBPB	chr11:55567730-55568064	A549	lung:	n/a	chr11:55567868-55567879 chr11:55567908-55567919
24	CEBPB	chr11:55407058-55407336	A549	lung:	n/a	chr11:55407201-55407212
25	CEBPB	chr11:55436869-55437201	A549	lung:	n/a	chr11:55437045-55437056
26	CEBPB	chr11:55407050-55407358	IMR90	lung:	n/a	chr11:55407201-55407212
27	CEBPB	chr11:55484570-55484826	K562	blood:	n/a	chr11:55484684-55484695 chr11:55484682-55484695 chr11:55484684-55484695 chr11:55484682-55484693 chr11:55484682-55484695
28	CEBPB	chr11:55460766-55460962	A549	lung:	n/a	n/a
29	CEBPB	chr11:55397893-55398090	HepG2	liver:	n/a	n/a
30	CEBPB	chr11:55486845-55487046	A549	lung:	n/a	n/a
31	CEBPB	chr11:55479060-55479320	HepG2	liver:	n/a	chr11:55479150-55479161
32	CEBPB	chr11:55591978-55592114	HepG2	liver:	n/a	chr11:55592043-55592056 chr11:55592042-55592059 chr11:55592043-55592056 chr11:55592043-55592054 chr11:55592044-55592055
33	CEBPB	chr11:55541048-55541310	A549	lung:	n/a	n/a
34	CEBPB	chr11:55407077-55407277	HepG2	liver:	n/a	chr11:55407201-55407212
35	CEBPB	chr11:55484586-55484848	HepG2	liver:	n/a	chr11:55484684-55484695 chr11:55484682-55484695 chr11:55484684-55484695 chr11:55484682-55484693 chr11:55484682-55484695
36	CEBPB	chr11:55436916-55437222	K562	blood:	n/a	chr11:55437045-55437056
37	CHD2	chr11:55425350-55426118	GM12878	blood:	n/a	n/a
38	CREB1	chr11:55461401-55461644	A549	lung:	n/a	n/a
39	CTCF	chr11:55482860-55483010	GM12865	blood:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
40	CTCF	chr11:55482860-55483010	HepG2	liver:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
41	CTCF	chr11:55494300-55494450	K562	blood:	n/a	n/a
42	CTCF	chr11:55495526-55495545	GM20000	blood:	n/a	n/a
43	CTCF	chr11:55482920-55483070	SAEC	small airway:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
44	CTCF	chr11:55494260-55494410	GM12871	blood:	n/a	n/a
45	CTCF	chr11:55494360-55494510	A549	lung:	n/a	n/a
46	CTCF	chr11:55376694-55376710	Kidney_OC	kidney:	n/a	n/a
47	CTCF	chr11:55494380-55494530	HCT-116	colon:	n/a	n/a
48	CTCF	chr11:55363997-55364070	Kidney_OC	kidney:	n/a	n/a
49	CTCF	chr11:55474618-55474767	SK-N-SH_RA	brain:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
50	CTCF	chr11:55482900-55483050	GM12874	blood:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55587104-55587154	HAEpiC	amniotic membrane:	n/a
2	chr11:55594854-55594904	HPAEpiC	pulmonary alveolar:	n/a
3	chr11:55605161-55605211	HAEpiC	amniotic membrane:	n/a
4	chr11:55587764-55587814	HCM	heart:	n/a
5	chr11:55406191-55406241	U87	brain:	n/a
6	chr11:55417018-55417068	HPAEpiC	pulmonary alveolar:	n/a
7	chr11:55587104-55587154	HAEpiC	amniotic membrane:	n/a
8	chr11:55594854-55594904	HPAEpiC	pulmonary alveolar:	n/a
9	chr11:55605161-55605211	HAEpiC	amniotic membrane:	n/a
10	chr11:55587764-55587814	HCM	heart:	n/a
11	chr11:55406191-55406241	U87	brain:	n/a
12	chr11:55417018-55417068	HPAEpiC	pulmonary alveolar:	n/a
13	chr11:55541018-55541068	SK-N-SH	brain:	n/a
14	chr11:55561545-55561595	SK-N-SH	brain:	n/a
15	chr11:55431584-55431634	HMEC	breast:	n/a
16	chr11:55561545-55561595	IMR90	lung:	fetal
17	chr11:55406191-55406241	ECC-1	luminal epithelium:	n/a
18	chr11:55587104-55587154	HRPEpiC	eye:	n/a
19	chr11:55431152-55431202	AG04450	lung:	fetal
20	chr11:55579363-55579413	SK-N-MC	brain:	n/a
21	chr11:55339961-55340011	GM12891	blood:	n/a
22	chr11:55563401-55563451	HCT-116	colon:	n/a
23	chr11:55587104-55587154	BJ	skin:	n/a
24	chr11:55593465-55593515	ProgFib	skin:	n/a
25	chr11:55433005-55433055	GM19239	blood:	n/a
26	chr11:55541269-55541319	ovcar-3	ovarian:	n/a
27	chr11:55541269-55541319	MCF-7	breast:	n/a
28	chr11:55579363-55579413	MCF-7	breast:	n/a
29	chr11:55371077-55371127	RPTEC	kidney:	n/a
30	chr11:55577775-55577825	SAEC	small airway:	n/a
31	chr11:55594854-55594904	RPTEC	kidney:	n/a
32	chr11:55586264-55586314	NHBE	bronchial:	n/a
33	chr11:55577775-55577825	A549	lung:	n/a
34	chr11:55433005-55433055	SK-N-SH	brain:	n/a
35	chr11:55541269-55541319	H1-hESC	embryonic stem cell:	embryo
36	chr11:55406191-55406241	ovcar-3	ovarian:	n/a
37	chr11:55606710-55606760	SK-N-MC	brain:	n/a
38	chr11:55605161-55605211	SK-N-SH_RA	brain:	n/a
39	chr11:55563401-55563451	HCPEpiC	choroid plexus:	n/a
40	chr11:55431152-55431202	Jurkat	blood:	n/a
41	chr11:55563401-55563451	HMEC	breast:	n/a
42	chr11:55586264-55586314	PFSK-1	brain:	n/a
43	chr11:55371077-55371127	CMK	blood:	n/a
44	chr11:55431152-55431202	GM06990	blood:	n/a
45	chr11:55587764-55587814	HCT-116	colon:	n/a
46	chr11:55431584-55431634	NHDF-neo	bronchial:	n/a
47	chr11:55594854-55594904	AG10803	skin:	n/a
48	chr11:55606710-55606760	AG10803	skin:	n/a
49	chr11:55593465-55593515	SK-N-MC	brain:	n/a
50	chr11:55587104-55587154	Jurkat	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:55575230..55577016-chr11:55600877..55602678,2	K562	blood:
2	chr11:55599784..55601500-chr11:55669222..55671222,2	K562	blood:
3	chr11:55569608..55571383-chr11:55587513..55589076,2	K562	blood:
4	chr11:55491735..55492235-chr19:6736783..6737284,2	NB4	blood:
5	chr11:55575230..55577016-chr11:55600877..55602678,2	K562	blood:
6	chr11:55569608..55571383-chr11:55587513..55589076,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPRYD5-1	chr11:55631408-55631812	NONHSAT021372
2	lnc-OR4C11-1	chr11:55453377-55453636	ENSG00000254804
3	lnc-OR4C11-1	chr11:55451617-55451701	ENSG00000254804

Variant related genes	Relation type
OR4S2	TF binding region
OR5D13	TF binding region
OR5D15P	TF binding region
ENSG00000255204	TF binding region
OR9M1P	TF binding region
OR4P4	TF binding region
ENSG00000255499	TF binding region
OR5D17P	TF binding region
OR5D14	TF binding region
OR4C6	TF binding region
ENSG00000254804	TF binding region
OR4C11	TF binding region
OR5L1	TF binding region
OR5L2	TF binding region
OR5D2P	TF binding region
OR5D18	TF binding region
OR5D16	TF binding region
OR4V1P	TF binding region
OR4P1P	TF binding region
OR5D3P	TF binding region
OR4S2	CpG island
OR5D13	CpG island
OR5D15P	CpG island
ENSG00000255204	CpG island
OR9M1P	CpG island
OR4P4	CpG island
ENSG00000255499	CpG island
OR5D17P	CpG island
OR5D14	CpG island
OR4C6	CpG island
ENSG00000254804	CpG island
OR4C11	CpG island
OR5L1	CpG island
OR5L2	CpG island
OR5D2P	CpG island
OR5D18	CpG island
OR5D16	CpG island
OR4V1P	CpG island
OR4P1P	CpG island
OR5D3P	CpG island
ENSG00000125734	chromatin interactions

Extended variants
information (count: 1274 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:1274 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150037639	chr11:55340204-55340205	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs12288690	chr11:55340210-55340211	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs540683798	chr11:55340219-55340220	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs376071910	chr11:55340237-55340238	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs571949898	chr11:55340242-55340243	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs370836583	chr11:55340263-55340264	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs373884066	chr11:55340265-55340266	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs200202125	chr11:55340279-55340280	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs368364916	chr11:55340282-55340283	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs141339772	chr11:55340295-55340296	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs201228188	chr11:55340303-55340304	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs141007915	chr11:55340315-55340316	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs143423274	chr11:55340318-55340319	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs367685638	chr11:55340320-55340321	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs146728227	chr11:55340325-55340326	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs555112423	chr11:55340355-55340356	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs148934947	chr11:55340357-55340358	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs374632973	chr11:55340358-55340359	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs111671250	chr11:55340369-55340370	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs372373843	chr11:55340370-55340371	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs371509327	chr11:55340374-55340375	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs143631879	chr11:55340376-55340377	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs201027271	chr11:55340378-55340379	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs559449	chr11:55340379-55340380	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs577913963	chr11:55340382-55340383	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs375892030	chr11:55340386-55340387	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs141913559	chr11:55340387-55340388	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs201403887	chr11:55340392-55340393	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs537719956	chr11:55340393-55340394	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs552504733	chr11:55353815-55353816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs141207036	chr11:55353833-55353834	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs571075901	chr11:55353837-55353838	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs56295433	chr11:55353843-55353844	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs540880	chr11:55353866-55353867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs113513006	chr11:55353878-55353879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs568446054	chr11:55353879-55353880	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs187415161	chr11:55353939-55353940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs557483587	chr11:55353953-55353954	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs11604257	chr11:55353966-55353967	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs56292460	chr11:55353977-55353978	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs558494873	chr11:55354000-55354001	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs577034713	chr11:55354004-55354005	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs144471256	chr11:55354027-55354028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs547759424	chr11:55354029-55354030	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs146972485	chr11:55354031-55354032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs570863945	chr11:55354049-55354050	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs531107424	chr11:55354062-55354063	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs78161604	chr11:55354089-55354090	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs574091887	chr11:55354106-55354107	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs61895192	chr11:55354108-55354109	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21990379	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	17142309	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Multiple myeloma	16616336	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55340200-55340400	Bivalent Enhancer	Aorta	Aorta
2	chr11:55353800-55354600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr11:55366800-55367200	ZNF genes & repeats	Esophagus	oesophagus
4	chr11:55395800-55397000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr11:55411800-55412000	Active TSS	Fetal Brain Male	brain
6	chr11:55412000-55421200	Weak transcription	Fetal Brain Male	brain
7	chr11:55414600-55415000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
8	chr11:55415000-55416200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr11:55416200-55416400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
10	chr11:55421200-55421600	Active TSS	Fetal Brain Male	brain
11	chr11:55425800-55426600	Enhancers	GM12878-XiMat	blood
12	chr11:55426200-55426400	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr11:55451200-55453000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
14	chr11:55453400-55454000	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr11:55500200-55500800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:55508400-55508600	Enhancers	Esophagus	oesophagus
17	chr11:55508400-55508600	ZNF genes & repeats	Pancreas	Pancrea
18	chr11:55545600-55547200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
19	chr11:55589400-55590400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
20	chr11:55633200-55633600	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr11:55638000-55640200	Weak transcription	Brain Inferior Temporal Lobe	brain

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