Variant report

Variant	nsv1042158
Chromosome Location	chr11:55045843-55121390
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:51)
CpG islands
(count:306)
Chromatin interactive
region (count:2)
LncRNA
region (count:23)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:51 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr11:55050184-55050482	GM12878	blood:	n/a	chr11:55050282-55050292
2	BATF	chr11:55056701-55057020	GM12878	blood:	n/a	n/a
3	BATF	chr11:55050155-55050460	GM12878	blood:	n/a	chr11:55050282-55050292
4	CEBPB	chr11:55113743-55114014	HepG2	liver:	n/a	chr11:55113873-55113884
5	CEBPB	chr11:55113744-55114010	IMR90	lung:	n/a	chr11:55113873-55113884
6	CTCF	chr11:55050795-55050839	Kidney_OC	kidney:	n/a	n/a
7	CTCF	chr11:55054826-55054887	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr11:55065466-55065514	Lung_OC	lung:	n/a	n/a
9	CTCF	chr11:55054223-55054257	GM20000	blood:	n/a	n/a
10	CTCF	chr11:55102008-55102079	GM20000	blood:	n/a	n/a
11	CTCF	chr11:55054827-55054891	Spleen_OC	spleen:	n/a	n/a
12	CTCF	chr11:55060950-55060977	GM20000	blood:	n/a	n/a
13	E2F4	chr11:55087258-55087458	MCF10A-Er-Src	breast:	n/a	n/a
14	EBF1	chr11:55050158-55050491	GM12878	blood:	n/a	chr11:55050256-55050266
15	EBF1	chr11:55050337-55050649	GM12878	blood:	n/a	chr11:55050497-55050508 chr11:55050499-55050508 chr11:55050498-55050508 chr11:55050499-55050508 chr11:55050497-55050510
16	EBF1	chr11:55050152-55050414	GM12878	blood:	n/a	chr11:55050256-55050266
17	GABPA	chr11:55071462-55071646	Hela-S3	cervix:	n/a	n/a
18	IRF1	chr11:55120017-55120077	K562	blood:	n/a	n/a
19	JUN	chr11:55058092-55058283	HepG2	liver:	n/a	n/a
20	JUN	chr11:55118697-55118762	H1-hESC	embryonic stem cell:	n/a	n/a
21	JUND	chr11:55058084-55058317	HepG2	liver:	n/a	n/a
22	MAFF	chr11:55118387-55118638	HepG2	liver:	n/a	n/a
23	MAFF	chr11:55112844-55113121	K562	blood:	n/a	chr11:55112976-55112990 chr11:55112977-55112995
24	MAFF	chr11:55112845-55113118	HepG2	liver:	n/a	chr11:55112976-55112990 chr11:55112977-55112995
25	MAFK	chr11:55077358-55077482	HepG2	liver:	n/a	n/a
26	MAFK	chr11:55118385-55118705	HepG2	liver:	n/a	chr11:55118534-55118549
27	MAFK	chr11:55118385-55118585	HepG2	liver:	n/a	chr11:55118534-55118549
28	MAFK	chr11:55103787-55103999	HepG2	liver:	n/a	n/a
29	MAFK	chr11:55103858-55104010	HepG2	liver:	n/a	n/a
30	MAFK	chr11:55112810-55113147	IMR90	lung:	n/a	chr11:55112978-55112994 chr11:55112983-55112994 chr11:55112973-55112993
31	MAFK	chr11:55118468-55118638	K562	blood:	n/a	chr11:55118534-55118549
32	MAFK	chr11:55112881-55113110	K562	blood:	n/a	chr11:55112978-55112994 chr11:55112983-55112994 chr11:55112973-55112993
33	MAFK	chr11:55118418-55118639	IMR90	lung:	n/a	chr11:55118534-55118549
34	MAFK	chr11:55114485-55114642	HepG2	liver:	n/a	n/a
35	MAFK	chr11:55107496-55107675	HepG2	liver:	n/a	n/a
36	MAFK	chr11:55112811-55113151	HepG2	liver:	n/a	chr11:55112978-55112994 chr11:55112983-55112994 chr11:55112973-55112993
37	MAFK	chr11:55112821-55113154	HepG2	liver:	n/a	chr11:55112978-55112994 chr11:55112983-55112994 chr11:55112973-55112993
38	POLR2A	chr11:55108070-55108154	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr11:55111198-55111228	Gliobla	brain:	n/a	n/a
40	POLR2A	chr11:55077345-55077435	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr11:55102152-55102216	K562	blood:	n/a	n/a
42	POLR2A	chr11:55087831-55087858	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr11:55118477-55118677	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr11:55119916-55120116	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr11:55046999-55047110	Gliobla	brain:	n/a	n/a
46	POLR2A	chr11:55110435-55110449	GM12878	blood:	n/a	n/a
47	STAT3	chr11:55079129-55079281	MCF10A-Er-Src	breast:	n/a	n/a
48	TCF12	chr11:55050198-55050364	GM12878	blood:	n/a	chr11:55050201-55050211 chr11:55050326-55050333
49	TCF3	chr11:55045523-55045889	GM12878	blood:	n/a	n/a
50	TCF3	chr11:55050139-55050445	GM12878	blood:	n/a	chr11:55050322-55050338

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55111658-55111708	ovcar-3	ovarian:	n/a
2	chr11:55111658-55111708	ovcar-3	ovarian:	n/a
3	chr11:55111658-55111708	HEEpiC	esophagus:	n/a
4	chr11:55111658-55111708	AG09309	skin:	n/a
5	chr11:55111658-55111708	HAEpiC	amniotic membrane:	n/a
6	chr11:55110562-55110612	SK-N-MC	brain:	n/a
7	chr11:55110233-55110283	HCT-116	colon:	n/a
8	chr11:55109885-55109935	GM19239	blood:	n/a
9	chr11:55109885-55109935	NHBE	bronchial:	n/a
10	chr11:55109885-55109935	GM12892	blood:	n/a
11	chr11:55066025-55066075	GM12891	blood:	n/a
12	chr11:55066025-55066075	IMR90	lung:	fetal
13	chr11:55110562-55110612	HCT-116	colon:	n/a
14	chr11:55111658-55111708	AG04449	skin:	fetal
15	chr11:55066025-55066075	NHBE	bronchial:	n/a
16	chr11:55110562-55110612	AG09309	skin:	n/a
17	chr11:55111658-55111708	MCF10A-Er-Src	breast:	n/a
18	chr11:55110233-55110283	HUVEC	blood vessel:	n/a
19	chr11:55109885-55109935	AG09309	skin:	n/a
20	chr11:55110233-55110283	H1-hESC	embryonic stem cell:	embryo
21	chr11:55111658-55111708	HMEC	breast:	n/a
22	chr11:55109885-55109935	HCM	heart:	n/a
23	chr11:55066025-55066075	HRCEpiC	kidney:	n/a
24	chr11:55109885-55109935	HL-60	blood:	n/a
25	chr11:55111658-55111708	AoSMC	blood vessel:	n/a
26	chr11:55109885-55109935	HCPEpiC	choroid plexus:	n/a
27	chr11:55110233-55110283	HPAEpiC	pulmonary alveolar:	n/a
28	chr11:55109885-55109935	HNPCEpiC	eye:	n/a
29	chr11:55066025-55066075	SAEC	small airway:	n/a
30	chr11:55110233-55110283	SKMC	muscle:	n/a
31	chr11:55066025-55066075	HCM	heart:	n/a
32	chr11:55066025-55066075	AG09319	gingival:	n/a
33	chr11:55109885-55109935	BE2_C	brain:	n/a
34	chr11:55109885-55109935	AG04450	lung:	fetal
35	chr11:55110562-55110612	GM19239	blood:	n/a
36	chr11:55109885-55109935	HEK293	kidney:	embryo
37	chr11:55109885-55109935	CMK	blood:	n/a
38	chr11:55109885-55109935	Caco-2	colon:	n/a
39	chr11:55111658-55111708	HUVEC	blood vessel:	n/a
40	chr11:55109885-55109935	NHDF-neo	bronchial:	n/a
41	chr11:55109885-55109935	SK-N-SH_RA	brain:	n/a
42	chr11:55110562-55110612	AG04449	skin:	fetal
43	chr11:55066025-55066075	HEK293	kidney:	embryo
44	chr11:55066025-55066075	HCPEpiC	choroid plexus:	n/a
45	chr11:55066025-55066075	GM12878	blood:	n/a
46	chr11:55066025-55066075	BE2_C	brain:	n/a
47	chr11:55111658-55111708	HEK293	kidney:	embryo
48	chr11:55110562-55110612	HEEpiC	esophagus:	n/a
49	chr11:55066025-55066075	HCF	heart:	n/a
50	chr11:55110233-55110283	AG04449	skin:	fetal

(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:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR4C11-2	chr11:55071537-55071634	NONHSAT021358
2	lnc-OR4C11-3	chr11:55065335-55065708	NR_038174
3	lnc-OR4C11-4	chr11:55047367-55047617	NONHSAT021353
4	lnc-OR4C11-2	chr11:55069766-55070437	NONHSAT021358
5	lnc-OR4C11-3	chr11:55062198-55062220	NONHSAT021357
6	lnc-OR4C11-4	chr11:55052131-55052225	NONHSAT021353
7	lnc-OR4C11-4	chr11:55052405-55052415	NONHSAT021356
8	lnc-OR4C11-3	chr11:55062708-55063166	NONHSAT021357
9	lnc-OR4C11-3	chr11:55062708-55063166	NR_038174
10	lnc-OR4C11-3	chr11:55064955-55065051	NR_038174
11	lnc-OR4C11-3	chr11:55061180-55061232	NONHSAT021357
12	lnc-OR4C11-3	chr11:55062198-55062220	NR_038174
13	lnc-OR4C11-3	chr11:55061179-55061232	NR_038174
14	lnc-OR4C11-2	chr11:55072505-55072536	NONHSAT021358
15	lnc-OR4C11-4	chr11:55052911-55052999	NONHSAT021356
16	lnc-OR4C11-3	chr11:55065334-55065439	NONHSAT021357
17	lnc-OR4C11-4	chr11:55052134-55052227	NONHSAT021356
18	lnc-OR4C11-4	chr11:55046923-55047254	NONHSAT021353
19	lnc-TRIM48-2	chr11:55049978-55050453	NONHSAT021355
20	lnc-TRIM48-1	chr11:55047425-55047765	NONHSAT021354
21	lnc-OR4C11-3	chr11:55064955-55065048	NONHSAT021357
22	lnc-OR4C11-4	chr11:55052545-55052560	NONHSAT021356
23	lnc-OR4C11-4	chr11:55050561-55050681	NONHSAT021353

No data

Variant related genes	Relation type
OR4A11P	TF binding region
ENSG00000254696	TF binding region
TRIM51HP	TF binding region
ENSG00000254828	TF binding region
OR4A16	TF binding region
ENSG00000255283	TF binding region
OR4A12P	TF binding region
ENSG00000255110	TF binding region
OR4A11P	CpG island
ENSG00000254696	CpG island
TRIM51HP	CpG island
ENSG00000254828	CpG island
OR4A16	CpG island
ENSG00000255283	CpG island
OR4A12P	CpG island
ENSG00000255110	CpG island

Extended variants
information (count: 832 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:832 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562481331	chr11:55045880-55045881	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs538723716	chr11:55046944-55046945	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs553952510	chr11:55046969-55046970	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs189464584	chr11:55046994-55046995	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs535828565	chr11:55047000-55047001	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs554558787	chr11:55047005-55047006	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs530788737	chr11:55047017-55047018	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs550587692	chr11:55047029-55047030	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs61894947	chr11:55047032-55047033	Inactive region	TF binding region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs558309962	chr11:55047043-55047044	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs111277165	chr11:55047044-55047045	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs61894948	chr11:55047047-55047048	Inactive region	TF binding region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs559467615	chr11:55047050-55047051	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs192530029	chr11:55047090-55047091	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs547166321	chr11:55047097-55047098	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs541815665	chr11:55047098-55047099	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs61894949	chr11:55047103-55047104	Inactive region	TF binding region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs539230276	chr11:55047109-55047110	Inactive region	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs531081911	chr11:55047122-55047123	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs559259694	chr11:55047128-55047129	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs185119751	chr11:55047178-55047179	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs564662394	chr11:55047202-55047203	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs528743083	chr11:55047204-55047205	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs190057673	chr11:55047208-55047209	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs181181364	chr11:55047213-55047214	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs185089764	chr11:55047373-55047374	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs574582943	chr11:55047389-55047390	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs111786504	chr11:55047396-55047397	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs546517501	chr11:55047399-55047400	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs10792080	chr11:55047415-55047416	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs190725569	chr11:55047429-55047430	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs139111075	chr11:55047445-55047446	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs183933432	chr11:55047447-55047448	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs529733411	chr11:55047454-55047455	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs186852177	chr11:55047458-55047459	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs191487467	chr11:55047492-55047493	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs537094648	chr11:55047515-55047516	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs551755958	chr11:55047527-55047528	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs570369615	chr11:55047547-55047548	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs534619307	chr11:55047579-55047580	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs552720701	chr11:55047629-55047630	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs574601628	chr11:55047638-55047639	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs535570666	chr11:55047656-55047657	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs61894951	chr11:55047660-55047661	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs575653637	chr11:55047680-55047681	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs61894952	chr11:55047694-55047695	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs562421589	chr11:55047742-55047743	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs573552432	chr11:55047756-55047757	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs527534205	chr11:55049208-55049209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533852781	chr11:55049214-55049215	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	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

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55049200-55050000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:55049400-55050000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:55051800-55052200	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr11:55057200-55057600	Active TSS	Fetal Heart	heart
5	chr11:55079600-55081200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:55083400-55083800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:55110800-55112400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
8	chr11:55120800-55121800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:55120800-55122200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:55121200-55121600	Enhancers	Brain Hippocampus Middle	brain

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