Variant report

Variant	nsv1051510
Chromosome Location	chr11:55376486-55603568
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	chr11:55425468-55425815	GM12878	blood:	n/a	n/a
3	BATF	chr11:55425431-55426129	GM12878	blood:	n/a	n/a
4	BATF	chr11:55426940-55427106	GM12878	blood:	n/a	chr11:55427071-55427081
5	BCL11A	chr11:55425504-55425830	GM12878	blood:	n/a	n/a
6	BCL11A	chr11:55425496-55426197	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	chr11:55436869-55437201	A549	lung:	n/a	chr11:55437045-55437056
11	CEBPB	chr11:55460766-55460962	A549	lung:	n/a	n/a
12	CEBPB	chr11:55407050-55407358	IMR90	lung:	n/a	chr11:55407201-55407212
13	CEBPB	chr11:55397893-55398090	HepG2	liver:	n/a	n/a
14	CEBPB	chr11:55436916-55437222	K562	blood:	n/a	chr11:55437045-55437056
15	CEBPB	chr11:55541048-55541310	A549	lung:	n/a	n/a
16	CEBPB	chr11:55484586-55484848	HepG2	liver:	n/a	chr11:55484684-55484695 chr11:55484682-55484695 chr11:55484684-55484695 chr11:55484682-55484693 chr11:55484682-55484695
17	CEBPB	chr11:55397830-55398153	IMR90	lung:	n/a	n/a
18	CEBPB	chr11:55531894-55532015	HepG2	liver:	n/a	n/a
19	CEBPB	chr11:55486845-55487046	A549	lung:	n/a	n/a
20	CEBPB	chr11:55479060-55479320	HepG2	liver:	n/a	chr11:55479150-55479161
21	CEBPB	chr11:55407077-55407277	HepG2	liver:	n/a	chr11:55407201-55407212
22	CEBPB	chr11:55436866-55437227	IMR90	lung:	n/a	chr11:55437045-55437056
23	CEBPB	chr11:55436863-55437223	HepG2	liver:	n/a	chr11:55437045-55437056
24	CEBPB	chr11:55535621-55535901	HepG2	liver:	n/a	chr11:55535727-55535738
25	CEBPB	chr11:55484570-55484826	K562	blood:	n/a	chr11:55484684-55484695 chr11:55484682-55484695 chr11:55484684-55484695 chr11:55484682-55484693 chr11:55484682-55484695
26	CEBPB	chr11:55397950-55398078	A549	lung:	n/a	n/a
27	CEBPB	chr11:55567730-55568064	A549	lung:	n/a	chr11:55567868-55567879 chr11:55567908-55567919
28	CEBPB	chr11:55567767-55568076	HepG2	liver:	n/a	chr11:55567868-55567879 chr11:55567908-55567919
29	CEBPB	chr11:55591978-55592114	HepG2	liver:	n/a	chr11:55592043-55592056 chr11:55592042-55592059 chr11:55592043-55592056 chr11:55592043-55592054 chr11:55592044-55592055
30	CEBPB	chr11:55407058-55407336	A549	lung:	n/a	chr11:55407201-55407212
31	CHD2	chr11:55425350-55426118	GM12878	blood:	n/a	n/a
32	CREB1	chr11:55461401-55461644	A549	lung:	n/a	n/a
33	CTCF	chr11:55494407-55494409	MCF-7	breast:	n/a	n/a
34	CTCF	chr11:55494315-55494514	GM19240	blood:	n/a	n/a
35	CTCF	chr11:55494320-55494470	HBMEC	blood vessel:	n/a	n/a
36	CTCF	chr11:55482940-55483090	RPTEC	kidney:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
37	CTCF	chr11:55474620-55474770	GM12867	blood:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
38	CTCF	chr11:55494341-55494432	GM13976	blood:	n/a	n/a
39	CTCF	chr11:55482840-55482990	GM12873	blood:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
40	CTCF	chr11:55474720-55474870	BE2_C	brain:	n/a	n/a
41	CTCF	chr11:55474680-55474830	AG04450	lung:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
42	CTCF	chr11:55482817-55483102	Gliobla	brain:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
43	CTCF	chr11:55474513-55474858	HCT-116	colon:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706
44	CTCF	chr11:55482840-55482990	GM12870	blood:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
45	CTCF	chr11:55495526-55495545	GM20000	blood:	n/a	n/a
46	CTCF	chr11:55482800-55482950	GM12867	blood:	n/a	n/a
47	CTCF	chr11:55482904-55483039	ProgFib	skin:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
48	CTCF	chr11:55482860-55483010	HEK293	kidney:	n/a	chr11:55482946-55482967 chr11:55482947-55482960 chr11:55482945-55482961 chr11:55482947-55482960 chr11:55482944-55482962
49	CTCF	chr11:55494300-55494450	HEK293	kidney:	n/a	n/a
50	CTCF	chr11:55474580-55474730	HRE	kidney:	n/a	chr11:55474686-55474707 chr11:55474691-55474709 chr11:55474696-55474704 chr11:55474693-55474706

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55431584-55431634	IMR90	lung:	fetal
2	chr11:55579363-55579413	BE2_C	brain:	n/a
3	chr11:55587104-55587154	NB4	blood:	n/a
4	chr11:55561545-55561595	NHBE	bronchial:	n/a
5	chr11:55586264-55586314	AG09309	skin:	n/a
6	chr11:55431584-55431634	IMR90	lung:	fetal
7	chr11:55579363-55579413	BE2_C	brain:	n/a
8	chr11:55587104-55587154	NB4	blood:	n/a
9	chr11:55561545-55561595	NHBE	bronchial:	n/a
10	chr11:55586264-55586314	AG09309	skin:	n/a
11	chr11:55418816-55418866	HCF	heart:	n/a
12	chr11:55406191-55406241	NH-A	brain:	n/a
13	chr11:55587764-55587814	SK-N-SH	brain:	n/a
14	chr11:55431152-55431202	SAEC	small airway:	n/a
15	chr11:55541269-55541319	HCM	heart:	n/a
16	chr11:55561545-55561595	SK-N-SH	brain:	n/a
17	chr11:55579363-55579413	AG09319	gingival:	n/a
18	chr11:55541018-55541068	CMK	blood:	n/a
19	chr11:55433005-55433055	Jurkat	blood:	n/a
20	chr11:55561545-55561595	NH-A	brain:	n/a
21	chr11:55587104-55587154	HPAEpiC	pulmonary alveolar:	n/a
22	chr11:55433005-55433055	HUVEC	blood vessel:	n/a
23	chr11:55431584-55431634	A549	lung:	n/a
24	chr11:55541269-55541319	HCT-116	colon:	n/a
25	chr11:55541018-55541068	PrEC	prostate:	n/a
26	chr11:55587764-55587814	HCPEpiC	choroid plexus:	n/a
27	chr11:55541018-55541068	A549	lung:	n/a
28	chr11:55586293-55586343	IMR90	lung:	fetal
29	chr11:55586264-55586314	GM12892	blood:	n/a
30	chr11:55541018-55541068	NHDF-neo	bronchial:	n/a
31	chr11:55561545-55561595	HRE	kidney:	n/a
32	chr11:55417018-55417068	SK-N-SH	brain:	n/a
33	chr11:55433005-55433055	ProgFib	skin:	n/a
34	chr11:55586293-55586343	SAEC	small airway:	n/a
35	chr11:55586264-55586314	NH-A	brain:	n/a
36	chr11:55594854-55594904	T-47D	breast:	n/a
37	chr11:55561545-55561595	HCPEpiC	choroid plexus:	n/a
38	chr11:55594854-55594904	HEEpiC	esophagus:	n/a
39	chr11:55541269-55541319	T-47D	breast:	n/a
40	chr11:55593465-55593515	HUVEC	blood vessel:	n/a
41	chr11:55563401-55563451	PANC-1	pancreas:	n/a
42	chr11:55431584-55431634	SK-N-SH	brain:	n/a
43	chr11:55563401-55563451	SAEC	small airway:	n/a
44	chr11:55417018-55417068	HUVEC	blood vessel:	n/a
45	chr11:55587764-55587814	HRPEpiC	eye:	n/a
46	chr11:55431584-55431634	HL-60	blood:	n/a
47	chr11:55594854-55594904	SK-N-SH_RA	brain:	n/a
48	chr11:55579363-55579413	AG09309	skin:	n/a
49	chr11:55586293-55586343	NH-A	brain:	n/a
50	chr11:55577775-55577825	SK-N-MC	brain:	n/a

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR4C11-1	chr11:55453377-55453636	ENSG00000254804
2	lnc-OR4C11-1	chr11:55451617-55451701	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
OR4P4	TF binding region
OR5D17P	TF binding region
OR5D14	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
OR4P4	CpG island
OR5D17P	CpG island
OR5D14	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: 1028 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:1028 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542294519	chr11:55395828-55395829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs112479002	chr11:55395846-55395847	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs113205148	chr11:55395860-55395861	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs36062315	chr11:55395886-55395887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs531353248	chr11:55395899-55395900	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs12364838	chr11:55395922-55395923	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs145473853	chr11:55395935-55395936	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs557751521	chr11:55395939-55395940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs532821177	chr11:55395941-55395942	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs544127405	chr11:55395948-55395949	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs189955667	chr11:55395966-55395967	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs373896490	chr11:55395970-55395971	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs116162984	chr11:55396018-55396019	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs368155909	chr11:55396031-55396032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs180804020	chr11:55396040-55396041	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs10897108	chr11:55396041-55396042	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs12361051	chr11:55396055-55396056	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs537149724	chr11:55396061-55396062	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs148842153	chr11:55396079-55396080	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs143517164	chr11:55396080-55396081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs111341928	chr11:55396107-55396108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs34553202	chr11:55396184-55396185	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs571186755	chr11:55396195-55396196	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs572293421	chr11:55396207-55396208	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs77038864	chr11:55396235-55396236	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs560725717	chr11:55396238-55396239	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs12421157	chr11:55396301-55396302	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs570626053	chr11:55396302-55396303	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs543560110	chr11:55396343-55396344	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs565449607	chr11:55396368-55396369	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs532729301	chr11:55396378-55396379	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs76794057	chr11:55396399-55396400	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs559985094	chr11:55396426-55396427	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs113279056	chr11:55396470-55396471	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs567012179	chr11:55396487-55396488	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs142219064	chr11:55396507-55396508	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs569957781	chr11:55396527-55396528	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs201168152	chr11:55396536-55396537	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs76788391	chr11:55396545-55396546	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs386373835	chr11:55396546-55396547	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs199776545	chr11:55396547-55396548	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs398115399	chr11:55396551-55396552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs371343350	chr11:55396552-55396553	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs371169330	chr11:55396555-55396556	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs374139389	chr11:55396556-55396557	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs111406656	chr11:55396575-55396576	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs73469471	chr11:55396613-55396614	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs185170426	chr11:55396622-55396623	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs11230461	chr11:55396672-55396673	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs542192790	chr11:55396673-55396674	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	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
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55395800-55397000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr11:55411800-55412000	Active TSS	Fetal Brain Male	brain
3	chr11:55412000-55421200	Weak transcription	Fetal Brain Male	brain
4	chr11:55414600-55415000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
5	chr11:55415000-55416200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr11:55416200-55416400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
7	chr11:55421200-55421600	Active TSS	Fetal Brain Male	brain
8	chr11:55425800-55426600	Enhancers	GM12878-XiMat	blood
9	chr11:55426200-55426400	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr11:55451200-55453000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr11:55453400-55454000	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr11:55500200-55500800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:55508400-55508600	Enhancers	Esophagus	oesophagus
14	chr11:55508400-55508600	ZNF genes & repeats	Pancreas	Pancrea
15	chr11:55545600-55547200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
16	chr11:55589400-55590400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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