Variant report

Variant	nsv554801
Chromosome Location	chr11:55314151-55624360
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	chr11:55425431-55426129	GM12878	blood:	n/a	n/a
3	BATF	chr11:55425468-55425815	GM12878	blood:	n/a	n/a
4	BATF	chr11:55426940-55427106	GM12878	blood:	n/a	chr11:55427071-55427081
5	BCL11A	chr11:55425496-55426197	GM12878	blood:	n/a	n/a
6	BCL11A	chr11:55425504-55425830	GM12878	blood:	n/a	n/a
7	BHLHE40	chr11:55425502-55426161	GM12878	blood:	n/a	n/a
8	BHLHE40	chr11:55427039-55427080	GM12878	blood:	n/a	n/a
9	CCNT2	chr11:55598241-55598440	K562	blood:	n/a	n/a
10	CEBPB	chr11:55479060-55479320	HepG2	liver:	n/a	chr11:55479150-55479161
11	CEBPB	chr11:55407050-55407358	IMR90	lung:	n/a	chr11:55407201-55407212
12	CEBPB	chr11:55397950-55398078	A549	lung:	n/a	n/a
13	CEBPB	chr11:55567730-55568064	A549	lung:	n/a	chr11:55567868-55567879 chr11:55567908-55567919
14	CEBPB	chr11:55407077-55407277	HepG2	liver:	n/a	chr11:55407201-55407212
15	CEBPB	chr11:55436863-55437223	HepG2	liver:	n/a	chr11:55437045-55437056
16	CEBPB	chr11:55591978-55592114	HepG2	liver:	n/a	chr11:55592043-55592056 chr11:55592042-55592059 chr11:55592043-55592056 chr11:55592043-55592054 chr11:55592044-55592055
17	CEBPB	chr11:55397830-55398153	IMR90	lung:	n/a	n/a
18	CEBPB	chr11:55484570-55484826	K562	blood:	n/a	chr11:55484684-55484695 chr11:55484682-55484695 chr11:55484684-55484695 chr11:55484682-55484693 chr11:55484682-55484695
19	CEBPB	chr11:55486845-55487046	A549	lung:	n/a	n/a
20	CEBPB	chr11:55436916-55437222	K562	blood:	n/a	chr11:55437045-55437056
21	CEBPB	chr11:55535621-55535901	HepG2	liver:	n/a	chr11:55535727-55535738
22	CEBPB	chr11:55567767-55568076	HepG2	liver:	n/a	chr11:55567868-55567879 chr11:55567908-55567919
23	CEBPB	chr11:55541048-55541310	A549	lung:	n/a	n/a
24	CEBPB	chr11:55407058-55407336	A549	lung:	n/a	chr11:55407201-55407212
25	CEBPB	chr11:55397893-55398090	HepG2	liver:	n/a	n/a
26	CEBPB	chr11:55436866-55437227	IMR90	lung:	n/a	chr11:55437045-55437056
27	CEBPB	chr11:55460766-55460962	A549	lung:	n/a	n/a
28	CEBPB	chr11:55531894-55532015	HepG2	liver:	n/a	n/a
29	CEBPB	chr11:55436869-55437201	A549	lung:	n/a	chr11:55437045-55437056
30	CEBPB	chr11:55484586-55484848	HepG2	liver:	n/a	chr11:55484684-55484695 chr11:55484682-55484695 chr11:55484684-55484695 chr11:55484682-55484693 chr11:55484682-55484695
31	CHD2	chr11:55425350-55426118	GM12878	blood:	n/a	n/a
32	CREB1	chr11:55461401-55461644	A549	lung:	n/a	n/a
33	CTCF	chr11:55482900-55483050	HBMEC	blood vessel:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
34	CTCF	chr11:55494280-55494430	GM12868	blood:	n/a	n/a
35	CTCF	chr11:55474540-55474690	NHLF	lung:	n/a	n/a
36	CTCF	chr11:55474600-55474750	GM12878	blood:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
37	CTCF	chr11:55474580-55474730	AG09319	gingival:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
38	CTCF	chr11:55474640-55474790	AG10803	skin:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
39	CTCF	chr11:55474376-55474937	SK-N-SH	brain:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
40	CTCF	chr11:55494219-55494520	K562	blood:	n/a	n/a
41	CTCF	chr11:55482560-55482710	GM12872	blood:	n/a	n/a
42	CTCF	chr11:55474508-55474885	IMR90	lung:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
43	CTCF	chr11:55482804-55482989	K562	blood:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
44	CTCF	chr11:55474640-55474790	HEEpiC	esophagus:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
45	CTCF	chr11:55474620-55474770	HCPEpiC	choroid plexus:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
46	CTCF	chr11:55474600-55474750	Hela-S3	cervix:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
47	CTCF	chr11:55474640-55474790	Caco-2	colon:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
48	CTCF	chr11:55474620-55474770	HPAF	blood vessel:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
49	CTCF	chr11:55494260-55494410	GM12869	blood:	n/a	n/a
50	CTCF	chr11:55474616-55474767	A549	lung:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55406191-55406241	NT2-D1	testis:	n/a
2	chr11:55406191-55406241	NT2-D1	testis:	n/a
3	chr11:55605161-55605211	A549	lung:	n/a
4	chr11:55417018-55417068	HRPEpiC	eye:	n/a
5	chr11:55322753-55322803	BJ	skin:	n/a
6	chr11:55594854-55594904	K562	blood:	n/a
7	chr11:55406191-55406241	Hepatocyte	liver:	n/a
8	chr11:55321480-55321530	K562	blood:	n/a
9	chr11:55433005-55433055	ECC-1	luminal epithelium:	n/a
10	chr11:55593465-55593515	GM12878	blood:	n/a
11	chr11:55577775-55577825	Hela-S3	cervix:	n/a
12	chr11:55587764-55587814	MCF-7	breast:	n/a
13	chr11:55541269-55541319	HCT-116	colon:	n/a
14	chr11:55418816-55418866	HUVEC	blood vessel:	n/a
15	chr11:55541269-55541319	HL-60	blood:	n/a
16	chr11:55417018-55417068	AG10803	skin:	n/a
17	chr11:55606710-55606760	AG09309	skin:	n/a
18	chr11:55587104-55587154	SAEC	small airway:	n/a
19	chr11:55587764-55587814	HCM	heart:	n/a
20	chr11:55587764-55587814	AG10803	skin:	n/a
21	chr11:55406191-55406241	HRPEpiC	eye:	n/a
22	chr11:55322753-55322803	Jurkat	blood:	n/a
23	chr11:55431152-55431202	Hela-S3	cervix:	n/a
24	chr11:55606710-55606760	BJ	skin:	n/a
25	chr11:55606216-55606266	SK-N-MC	brain:	n/a
26	chr11:55406191-55406241	HEK293	kidney:	embryo
27	chr11:55586264-55586314	PANC-1	pancreas:	n/a
28	chr11:55541018-55541068	BE2_C	brain:	n/a
29	chr11:55406191-55406241	HCF	heart:	n/a
30	chr11:55579363-55579413	HEK293	kidney:	embryo
31	chr11:55606710-55606760	SK-N-MC	brain:	n/a
32	chr11:55587104-55587154	NH-A	brain:	n/a
33	chr11:55594854-55594904	HUVEC	blood vessel:	n/a
34	chr11:55406191-55406241	HAEpiC	amniotic membrane:	n/a
35	chr11:55431152-55431202	Hepatocyte	liver:	n/a
36	chr11:55541018-55541068	T-47D	breast:	n/a
37	chr11:55431152-55431202	HNPCEpiC	eye:	n/a
38	chr11:55579363-55579413	GM12878	blood:	n/a
39	chr11:55587764-55587814	T-47D	breast:	n/a
40	chr11:55587104-55587154	HNPCEpiC	eye:	n/a
41	chr11:55541269-55541319	HRCEpiC	kidney:	n/a
42	chr11:55417018-55417068	A549	lung:	n/a
43	chr11:55586264-55586314	SKMC	muscle:	n/a
44	chr11:55606216-55606266	NHDF-neo	bronchial:	n/a
45	chr11:55594854-55594904	HEK293	kidney:	embryo
46	chr11:55586264-55586314	CMK	blood:	n/a
47	chr11:55587764-55587814	K562	blood:	n/a
48	chr11:55417018-55417068	AG04450	lung:	fetal
49	chr11:55371077-55371127	HCM	heart:	n/a
50	chr11:55431152-55431202	SKMC	muscle:	n/a

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR4C11-1	chr11:55451617-55451701	ENSG00000254804
2	lnc-OR4C11-1	chr11:55453377-55453636	ENSG00000254804

Variant related genes	Relation type
OR4S2	TF binding region
OR4C11	TF binding region
OR5L1	TF binding region
OR5L2	TF binding region
OR5D13	TF binding region
OR5D15P	TF binding region
OR5D2P	TF binding region
OR5D18	TF binding region
OR4C16	TF binding region
OR9M1P	TF binding region
OR4P4	TF binding region
OR5D17P	TF binding region
OR5D14	TF binding region
OR4C15	TF binding region
OR5D16	TF binding region
OR4V1P	TF binding region
OR4P1P	TF binding region
OR4C6	TF binding region
OR5D3P	TF binding region
ENSG00000254804	TF binding region
OR4S2	CpG island
OR4C11	CpG island
OR5L1	CpG island
OR5L2	CpG island
OR5D13	CpG island
OR5D15P	CpG island
OR5D2P	CpG island
OR5D18	CpG island
OR4C16	CpG island
OR9M1P	CpG island
OR4P4	CpG island
OR5D17P	CpG island
OR5D14	CpG island
OR4C15	CpG island
OR5D16	CpG island
OR4V1P	CpG island
OR4P1P	CpG island
OR4C6	CpG island
OR5D3P	CpG island
ENSG00000254804	CpG island
ENSG00000125734	chromatin interactions

Extended variants
information (count: 1382 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:1382 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12418592	chr11:55314151-55314152	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs181386558	chr11:55314152-55314153	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs143478993	chr11:55314165-55314166	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs577944262	chr11:55314178-55314179	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs545415290	chr11:55314182-55314183	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs2926309	chr11:55314219-55314220	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs572518464	chr11:55314220-55314221	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs185770075	chr11:55314234-55314235	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs561867557	chr11:55314268-55314269	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs77618021	chr11:55314294-55314295	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs17581051	chr11:55314303-55314304	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs76400848	chr11:55314327-55314328	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs532761596	chr11:55314338-55314339	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs536447177	chr11:55314352-55314353	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs201481871	chr11:55314354-55314355	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs367662917	chr11:55314366-55314367	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs551370439	chr11:55314392-55314393	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs566402874	chr11:55314395-55314396	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs17159161	chr11:55314396-55314397	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs61917941	chr11:55314405-55314406	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs182597523	chr11:55314406-55314407	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs188902215	chr11:55314419-55314420	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs538086470	chr11:55314420-55314421	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs192088657	chr11:55314425-55314426	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs183641707	chr11:55314461-55314462	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs538623498	chr11:55314468-55314469	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs76154806	chr11:55314492-55314493	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs568707228	chr11:55314512-55314513	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs187468359	chr11:55314514-55314515	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs76467840	chr11:55314556-55314557	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs78191339	chr11:55314560-55314561	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs576400411	chr11:55314561-55314562	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs77611127	chr11:55314571-55314572	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs191606790	chr11:55314576-55314577	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs150965735	chr11:55314587-55314588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs544629479	chr11:55314621-55314622	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs560087784	chr11:55314622-55314623	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs527325542	chr11:55314626-55314627	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs183853437	chr11:55314685-55314686	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs560679574	chr11:55314695-55314696	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs555799288	chr11:55314746-55314747	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs56333107	chr11:55314754-55314755	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs4939359	chr11:55314786-55314787	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs571808053	chr11:55314817-55314818	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs55946210	chr11:55314851-55314852	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs572283051	chr11:55314862-55314863	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs547822953	chr11:55314874-55314875	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs540833407	chr11:55314884-55314885	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs536672188	chr11:55314902-55314903	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs150151761	chr11:55314906-55314907	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55312200-55315800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr11:55325800-55326000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
3	chr11:55337800-55338200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:55338000-55338400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr11:55340200-55340400	Bivalent Enhancer	Aorta	Aorta
6	chr11:55353800-55354600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr11:55366800-55367200	ZNF genes & repeats	Esophagus	oesophagus
8	chr11:55395800-55397000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr11:55411800-55412000	Active TSS	Fetal Brain Male	brain
10	chr11:55412000-55421200	Weak transcription	Fetal Brain Male	brain
11	chr11:55414600-55415000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
12	chr11:55415000-55416200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr11:55416200-55416400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
14	chr11:55421200-55421600	Active TSS	Fetal Brain Male	brain
15	chr11:55425800-55426600	Enhancers	GM12878-XiMat	blood
16	chr11:55426200-55426400	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr11:55451200-55453000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
18	chr11:55453400-55454000	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr11:55500200-55500800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:55508400-55508600	Enhancers	Esophagus	oesophagus
21	chr11:55508400-55508600	ZNF genes & repeats	Pancreas	Pancrea
22	chr11:55545600-55547200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
23	chr11:55589400-55590400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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