Variant report

Variant	nsv467886
Chromosome Location	chr11:55083434-55408700
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:368)
CpG islands
(count:1102)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:55195070-55195304	IMR90	lung:	n/a	chr11:55195175-55195186
2	CEBPB	chr11:55186537-55186742	HepG2	liver:	n/a	chr11:55186568-55186579
3	CEBPB	chr11:55180617-55180678	HepG2	liver:	n/a	n/a
4	CEBPB	chr11:55217456-55217716	HepG2	liver:	n/a	chr11:55217582-55217595 chr11:55217582-55217595 chr11:55217582-55217595 chr11:55217583-55217594 chr11:55217582-55217593
5	CEBPB	chr11:55407058-55407336	A549	lung:	n/a	chr11:55407201-55407212
6	CEBPB	chr11:55407050-55407358	IMR90	lung:	n/a	chr11:55407201-55407212
7	CEBPB	chr11:55237138-55237399	A549	lung:	n/a	chr11:55237275-55237286
8	CEBPB	chr11:55131951-55132124	A549	lung:	n/a	chr11:55131997-55132008 chr11:55131973-55131984
9	CEBPB	chr11:55312931-55313225	HepG2	liver:	n/a	chr11:55313093-55313104
10	CEBPB	chr11:55143436-55143619	A549	lung:	n/a	n/a
11	CEBPB	chr11:55225032-55225273	A549	lung:	n/a	n/a
12	CEBPB	chr11:55113743-55114014	HepG2	liver:	n/a	chr11:55113873-55113884
13	CEBPB	chr11:55407077-55407277	HepG2	liver:	n/a	chr11:55407201-55407212
14	CEBPB	chr11:55205280-55205382	HepG2	liver:	n/a	chr11:55205357-55205370 chr11:55205358-55205369
15	CEBPB	chr11:55397950-55398078	A549	lung:	n/a	n/a
16	CEBPB	chr11:55290616-55290841	HepG2	liver:	n/a	chr11:55290662-55290673
17	CEBPB	chr11:55113744-55114010	IMR90	lung:	n/a	chr11:55113873-55113884
18	CEBPB	chr11:55268173-55268348	K562	blood:	n/a	n/a
19	CEBPB	chr11:55195039-55195318	HepG2	liver:	n/a	chr11:55195175-55195186
20	CEBPB	chr11:55397830-55398153	IMR90	lung:	n/a	n/a
21	CEBPB	chr11:55237118-55237419	HepG2	liver:	n/a	chr11:55237275-55237286
22	CEBPB	chr11:55131841-55132160	HepG2	liver:	n/a	chr11:55131997-55132008 chr11:55131973-55131984
23	CEBPB	chr11:55397893-55398090	HepG2	liver:	n/a	n/a
24	CTCF	chr11:55125120-55125270	GM12868	blood:	n/a	n/a
25	CTCF	chr11:55271080-55271230	GM12872	blood:	n/a	n/a
26	CTCF	chr11:55124920-55125070	GM12873	blood:	n/a	n/a
27	CTCF	chr11:55125140-55125290	BE2_C	brain:	n/a	n/a
28	CTCF	chr11:55295940-55296090	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr11:55270968-55271188	A549	lung:	n/a	n/a
30	CTCF	chr11:55125186-55125270	GM19240	blood:	n/a	n/a
31	CTCF	chr11:55124919-55125610	SK-N-SH	brain:	n/a	n/a
32	CTCF	chr11:55137360-55137510	NHDF-neo	bronchial:	n/a	n/a
33	CTCF	chr11:55125160-55125310	HL-60	blood:	n/a	n/a
34	CTCF	chr11:55271058-55271188	K562	blood:	n/a	n/a
35	CTCF	chr11:55271018-55271294	K562	blood:	n/a	n/a
36	CTCF	chr11:55155068-55155123	GM20000	blood:	n/a	n/a
37	CTCF	chr11:55125168-55125315	A549	lung:	n/a	n/a
38	CTCF	chr11:55125200-55125350	GM12873	blood:	n/a	n/a
39	CTCF	chr11:55125040-55125190	HCT-116	colon:	n/a	n/a
40	CTCF	chr11:55125180-55125330	SK-N-SH_RA	brain:	n/a	n/a
41	CTCF	chr11:55102008-55102079	GM20000	blood:	n/a	n/a
42	CTCF	chr11:55271060-55271210	A549	lung:	n/a	n/a
43	CTCF	chr11:55125195-55125323	HUVEC	blood vessel:	n/a	n/a
44	CTCF	chr11:55125175-55125313	GM20000	blood:	n/a	n/a
45	CTCF	chr11:55271080-55271230	WERI-Rb-1	eye:	n/a	n/a
46	CTCF	chr11:55271060-55271210	HEK293	kidney:	n/a	n/a
47	CTCF	chr11:55125120-55125270	GM12867	blood:	n/a	n/a
48	CTCF	chr11:55125140-55125290	GM12869	blood:	n/a	n/a
49	CTCF	chr11:55174469-55174553	GM13976	blood:	n/a	n/a
50	CTCF	chr11:55271191-55271193	K562	blood:	n/a	n/a

(count:1102 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55135337-55135387	Caco-2	colon:	n/a
2	chr11:55227646-55227696	SKMC	muscle:	n/a
3	chr11:55135046-55135096	SK-N-MC	brain:	n/a
4	chr11:55110562-55110612	SK-N-SH_RA	brain:	n/a
5	chr11:55135337-55135387	Caco-2	colon:	n/a
6	chr11:55227646-55227696	SKMC	muscle:	n/a
7	chr11:55135046-55135096	SK-N-MC	brain:	n/a
8	chr11:55110562-55110612	SK-N-SH_RA	brain:	n/a
9	chr11:55227718-55227768	T-47D	breast:	n/a
10	chr11:55135331-55135381	GM19239	blood:	n/a
11	chr11:55135337-55135387	AG09319	gingival:	n/a
12	chr11:55135046-55135096	BE2_C	brain:	n/a
13	chr11:55339961-55340011	HRE	kidney:	n/a
14	chr11:55135656-55135706	HMEC	breast:	n/a
15	chr11:55371077-55371127	AG10803	skin:	n/a
16	chr11:55321480-55321530	HRE	kidney:	n/a
17	chr11:55339961-55340011	GM19239	blood:	n/a
18	chr11:55135337-55135387	MCF-7	breast:	n/a
19	chr11:55110233-55110283	HEEpiC	esophagus:	n/a
20	chr11:55111658-55111708	HL-60	blood:	n/a
21	chr11:55111658-55111708	MCF10A-Er-Src	breast:	n/a
22	chr11:55406191-55406241	HMEC	breast:	n/a
23	chr11:55110562-55110612	BJ	skin:	n/a
24	chr11:55134268-55134318	GM19239	blood:	n/a
25	chr11:55135337-55135387	GM06990	blood:	n/a
26	chr11:55321480-55321530	NB4	blood:	n/a
27	chr11:55338135-55338185	RPTEC	kidney:	n/a
28	chr11:55135331-55135381	A549	lung:	n/a
29	chr11:55227646-55227696	Jurkat	blood:	n/a
30	chr11:55227718-55227768	H1-hESC	embryonic stem cell:	embryo
31	chr11:55109885-55109935	RPTEC	kidney:	n/a
32	chr11:55109885-55109935	HRE	kidney:	n/a
33	chr11:55135337-55135387	HMEC	breast:	n/a
34	chr11:55227646-55227696	HCM	heart:	n/a
35	chr11:55371077-55371127	SAEC	small airway:	n/a
36	chr11:55134268-55134318	HRE	kidney:	n/a
37	chr11:55135331-55135381	NHBE	bronchial:	n/a
38	chr11:55111658-55111708	CMK	blood:	n/a
39	chr11:55110233-55110283	ovcar-3	ovarian:	n/a
40	chr11:55371077-55371127	NT2-D1	testis:	n/a
41	chr11:55371077-55371127	IMR90	lung:	fetal
42	chr11:55321480-55321530	BJ	skin:	n/a
43	chr11:55110562-55110612	HMEC	breast:	n/a
44	chr11:55338135-55338185	K562	blood:	n/a
45	chr11:55227646-55227696	AG04450	lung:	fetal
46	chr11:55371077-55371127	NB4	blood:	n/a
47	chr11:55338135-55338185	HRCEpiC	kidney:	n/a
48	chr11:55111658-55111708	Caco-2	colon:	n/a
49	chr11:55371077-55371127	GM12878	blood:	n/a
50	chr11:55135222-55135272	CMK	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:55087931..55090092-chr11:55095019..55097450,2	K562	blood:
2	chr11:55087931..55090092-chr11:55095019..55097450,2	K562	blood:

No data

Variant related genes	Relation type
OR4A11P	TF binding region
OR4A13P	TF binding region
OR4A9P	TF binding region
OR4A21P	TF binding region
OR4P4	TF binding region
OR4A50P	TF binding region
OR4A14P	TF binding region
OR4C1P	TF binding region
OR4A10P	TF binding region
OR4A17P	TF binding region
OR4A16	TF binding region
OR4C11	TF binding region
OR4X7P	TF binding region
ENSG00000255493	TF binding region
OR4C16	TF binding region
OR4C15	TF binding region
OR4A12P	TF binding region
OR4A15	TF binding region
OR4C14P	TF binding region
OR4A11P	CpG island
OR4A13P	CpG island
OR4A9P	CpG island
OR4A21P	CpG island
OR4P4	CpG island
OR4A50P	CpG island
OR4A14P	CpG island
OR4C1P	CpG island
OR4A10P	CpG island
OR4A17P	CpG island
OR4A16	CpG island
OR4C11	CpG island
OR4X7P	CpG island
ENSG00000255493	CpG island
OR4C16	CpG island
OR4C15	CpG island
OR4A12P	CpG island
OR4A15	CpG island
OR4C14P	CpG island

Extended variants
information (count: 2792 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:2792 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1216155	chr11:55083434-55083435	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs114073578	chr11:55083441-55083442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561578962	chr11:55083452-55083453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs61489186	chr11:55083458-55083459	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs182125255	chr11:55083495-55083496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370232147	chr11:55083504-55083505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1216156	chr11:55083524-55083525	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs533372387	chr11:55083526-55083527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1364766	chr11:55083536-55083537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186147842	chr11:55083537-55083538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191874087	chr11:55083545-55083546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183974384	chr11:55083568-55083569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568429940	chr11:55083574-55083575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188921639	chr11:55083584-55083585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534211767	chr11:55083597-55083598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538409920	chr11:55083609-55083610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550707136	chr11:55083653-55083654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554291589	chr11:55083657-55083658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577306586	chr11:55083726-55083727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568814722	chr11:55083747-55083748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540019618	chr11:55083767-55083768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539514107	chr11:55083768-55083769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192065263	chr11:55083795-55083796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538492678	chr11:55107497-55107498	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs61918407	chr11:55107504-55107505	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs556418761	chr11:55107523-55107524	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs368540818	chr11:55107541-55107542	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs372038114	chr11:55107558-55107559	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs182754619	chr11:55107559-55107560	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs546474781	chr11:55107580-55107581	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs146290080	chr11:55107589-55107590	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs573516903	chr11:55107593-55107594	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs540826683	chr11:55107600-55107601	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs574942577	chr11:55107607-55107608	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs112266150	chr11:55107609-55107610	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs574458247	chr11:55107634-55107635	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs187512702	chr11:55107648-55107649	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs142846642	chr11:55107650-55107651	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs544187503	chr11:55107651-55107652	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs545389217	chr11:55108132-55108133	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs558080132	chr11:55109912-55109913	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs78976577	chr11:55109921-55109922	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
43	rs117442637	chr11:55109922-55109923	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
44	rs74832906	chr11:55109932-55109933	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
45	rs571580369	chr11:55110234-55110235	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs193168148	chr11:55110249-55110250	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs10750871	chr11:55110277-55110278	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs565777810	chr11:55110282-55110283	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
49	rs75919730	chr11:55110440-55110441	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs531400410	chr11:55110562-55110563	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21990379	CNVD
small cell lung cancer	20016488	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
Alcoholism	21790672	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Incontinentia Pigmenti	22033527	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD
Breast cancer	20369283	CNVD
Bipolar disorder	19214233	CNVD
early-passage human iPS cells	21368824	CNVD
Obesity	21131291	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55083400-55083800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:55110800-55112400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
3	chr11:55120800-55121800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:55120800-55122200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:55121200-55121600	Enhancers	Brain Hippocampus Middle	brain
6	chr11:55124200-55124400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
7	chr11:55149400-55149800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr11:55168200-55169000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:55170600-55173200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr11:55190600-55191200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
11	chr11:55215800-55222400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr11:55225400-55225800	Active TSS	HSMMtube	muscle
13	chr11:55225800-55227600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr11:55227400-55227800	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr11:55243200-55243600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
16	chr11:55260600-55262800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr11:55263400-55263600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
18	chr11:55268600-55270400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:55269600-55277400	Weak transcription	Pancreas	Pancrea
20	chr11:55277400-55277800	ZNF genes & repeats	Pancreas	Pancrea
21	chr11:55277400-55278000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
22	chr11:55282000-55282400	Active TSS	Fetal Heart	heart
23	chr11:55312200-55315800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
24	chr11:55325800-55326000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
25	chr11:55337800-55338200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:55338000-55338400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr11:55340200-55340400	Bivalent Enhancer	Aorta	Aorta
28	chr11:55353800-55354600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
29	chr11:55366800-55367200	ZNF genes & repeats	Esophagus	oesophagus
30	chr11:55395800-55397000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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