Variant report

Variant	nsv541045
Chromosome Location	chr11:55900482-56008437
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	BACH1	chr11:55937213-55937236	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr11:55919802-55920154	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr11:56000780-56000794	K562	blood:	n/a	n/a
4	BACH1	chr11:55917916-55917973	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr11:55997407-55997695	Hela-S3	cervix:	n/a	chr11:55997577-55997588
6	CEBPB	chr11:55997409-55997769	K562	blood:	n/a	chr11:55997577-55997588
7	CEBPB	chr11:55964893-55965195	H1-hESC	embryonic stem cell:	n/a	chr11:55965053-55965066 chr11:55965055-55965064 chr11:55965055-55965064 chr11:55965055-55965064 chr11:55965054-55965065
8	CEBPB	chr11:55921214-55921534	HepG2	liver:	n/a	chr11:55921389-55921400
9	CEBPB	chr11:55964899-55965188	A549	lung:	n/a	chr11:55965053-55965066 chr11:55965055-55965064 chr11:55965055-55965064 chr11:55965055-55965064 chr11:55965054-55965065
10	CEBPB	chr11:55997392-55997743	A549	lung:	n/a	chr11:55997577-55997588
11	CEBPB	chr11:55997458-55997740	H1-hESC	embryonic stem cell:	n/a	chr11:55997577-55997588
12	CEBPB	chr11:55997403-55997756	HepG2	liver:	n/a	chr11:55997577-55997588
13	CEBPB	chr11:55964901-55965149	Hela-S3	cervix:	n/a	chr11:55965053-55965066 chr11:55965055-55965064 chr11:55965055-55965064 chr11:55965055-55965064 chr11:55965054-55965065
14	CEBPB	chr11:55905952-55906317	MCF-7	breast:	n/a	n/a
15	CEBPB	chr11:55964882-55965215	HepG2	liver:	n/a	chr11:55965053-55965066 chr11:55965055-55965064 chr11:55965055-55965064 chr11:55965055-55965064 chr11:55965054-55965065
16	CEBPB	chr11:55906014-55906261	A549	lung:	n/a	n/a
17	CEBPB	chr11:55997392-55997747	IMR90	lung:	n/a	chr11:55997577-55997588
18	CEBPB	chr11:55964876-55965231	IMR90	lung:	n/a	chr11:55965053-55965066 chr11:55965055-55965064 chr11:55965055-55965064 chr11:55965055-55965064 chr11:55965054-55965065
19	CTCF	chr11:55951088-55951110	LNCaP	prostate:	n/a	n/a
20	CTCF	chr11:55987346-55987405	GM20000	blood:	n/a	n/a
21	CTCF	chr11:55923930-55924003	GM13977	blood:	n/a	n/a
22	CTCF	chr11:55904745-55904803	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr11:55939440-55939590	GM12865	blood:	n/a	n/a
24	CUX1	chr11:55931480-55931615	GM12878	blood:	n/a	n/a
25	CUX1	chr11:55909690-55909743	GM12878	blood:	n/a	n/a
26	E2F4	chr11:55908544-55908661	MCF10A-Er-Src	breast:	n/a	n/a
27	E2F4	chr11:55975699-55975861	MCF10A-Er-Src	breast:	n/a	n/a
28	E2F4	chr11:55913517-55913717	MCF10A-Er-Src	breast:	n/a	n/a
29	E2F4	chr11:55933779-55933861	MCF10A-Er-Src	breast:	n/a	n/a
30	EP300	chr11:55939952-55939958	GM12878	blood:	n/a	n/a
31	EP300	chr11:55945388-55945393	GM12878	blood:	n/a	n/a
32	GATA1	chr11:55981069-55981435	PBDEFetal	blood:	n/a	n/a
33	GATA3	chr11:55996701-55996799	SH-SY5Y	brain:	n/a	n/a
34	GTF2F1	chr11:55961534-55961641	H1-hESC	embryonic stem cell:	n/a	n/a
35	IRF1	chr11:55941965-55942010	K562	blood:	n/a	n/a
36	JUN	chr11:55929821-55930021	K562	blood:	n/a	n/a
37	JUN	chr11:55923192-55923196	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAFF	chr11:56008117-56008405	HepG2	liver:	n/a	n/a
39	MAFF	chr11:55907780-55908077	HepG2	liver:	n/a	chr11:55907930-55907948
40	MAFF	chr11:55924987-55925229	HepG2	liver:	n/a	n/a
41	MAFF	chr11:55956104-55956444	HepG2	liver:	n/a	n/a
42	MAFF	chr11:55939978-55940275	K562	blood:	n/a	n/a
43	MAFF	chr11:55919839-55920189	HepG2	liver:	n/a	chr11:55920019-55920037
44	MAFF	chr11:55975267-55975702	K562	blood:	n/a	chr11:55975459-55975477
45	MAFF	chr11:55917758-55918122	HepG2	liver:	n/a	chr11:55917933-55917951 chr11:55917932-55917946
46	MAFF	chr11:55975268-55975666	HepG2	liver:	n/a	chr11:55975459-55975477
47	MAFF	chr11:55917757-55918114	K562	blood:	n/a	chr11:55917933-55917951 chr11:55917932-55917946
48	MAFF	chr11:55939975-55940289	HepG2	liver:	n/a	n/a
49	MAFF	chr11:55931302-55931656	K562	blood:	n/a	chr11:55931471-55931489 chr11:55931470-55931484
50	MAFF	chr11:55931290-55931662	HepG2	liver:	n/a	chr11:55931471-55931489 chr11:55931470-55931484

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55999683-55999733	HEK293	kidney:	embryo
2	chr11:55999683-55999733	NB4	blood:	n/a
3	chr11:55905246-55905296	IMR90	lung:	fetal
4	chr11:55927697-55927747	GM12891	blood:	n/a
5	chr11:55927697-55927747	GM12892	blood:	n/a
6	chr11:55905246-55905296	AG09319	gingival:	n/a
7	chr11:55999683-55999733	HCT-116	colon:	n/a
8	chr11:55999683-55999733	PrEC	prostate:	n/a
9	chr11:56000287-56000337	HepG2	liver:	n/a
10	chr11:55904782-55904832	K562	blood:	n/a
11	chr11:55927697-55927747	CMK	blood:	n/a
12	chr11:55927697-55927747	SK-N-SH	brain:	n/a
13	chr11:56000287-56000337	HRE	kidney:	n/a
14	chr11:56000287-56000337	HCT-116	colon:	n/a
15	chr11:55927697-55927747	GM06990	blood:	n/a
16	chr11:55944198-55944248	HCF	heart:	n/a
17	chr11:55905246-55905296	SKMC	muscle:	n/a
18	chr11:55944198-55944248	HCPEpiC	choroid plexus:	n/a
19	chr11:56000287-56000337	PrEC	prostate:	n/a
20	chr11:56000287-56000337	HCF	heart:	n/a
21	chr11:55927697-55927747	HNPCEpiC	eye:	n/a
22	chr11:55944198-55944248	SKMC	muscle:	n/a
23	chr11:55927697-55927747	BE2_C	brain:	n/a
24	chr11:55904782-55904832	AG04450	lung:	fetal
25	chr11:55904782-55904832	AoSMC	blood vessel:	n/a
26	chr11:55904782-55904832	MCF10A-Er-Src	breast:	n/a
27	chr11:55905246-55905296	NT2-D1	testis:	n/a
28	chr11:55905246-55905296	T-47D	breast:	n/a
29	chr11:55927697-55927747	K562	blood:	n/a
30	chr11:55904782-55904832	ProgFib	skin:	n/a
31	chr11:55999683-55999733	GM12892	blood:	n/a
32	chr11:55944198-55944248	ProgFib	skin:	n/a
33	chr11:55905246-55905296	HCF	heart:	n/a
34	chr11:56000287-56000337	HRPEpiC	eye:	n/a
35	chr11:56000287-56000337	RPTEC	kidney:	n/a
36	chr11:55905246-55905296	HPAEpiC	pulmonary alveolar:	n/a
37	chr11:55944198-55944248	AG10803	skin:	n/a
38	chr11:55905246-55905296	AG04449	skin:	fetal
39	chr11:56000287-56000337	HCPEpiC	choroid plexus:	n/a
40	chr11:55999683-55999733	HepG2	liver:	n/a
41	chr11:55905246-55905296	GM12891	blood:	n/a
42	chr11:55904782-55904832	Hepatocyte	liver:	n/a
43	chr11:56000287-56000337	SK-N-SH_RA	brain:	n/a
44	chr11:55904782-55904832	Caco-2	colon:	n/a
45	chr11:55999683-55999733	PANC-1	pancreas:	n/a
46	chr11:56000287-56000337	AoSMC	blood vessel:	n/a
47	chr11:56000287-56000337	PFSK-1	brain:	n/a
48	chr11:55944198-55944248	HMEC	breast:	n/a
49	chr11:55944198-55944248	NT2-D1	testis:	n/a
50	chr11:55905246-55905296	HEEpiC	esophagus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:55921059..55923391-chr11:55935211..55936757,2	K562	blood:
2	chr11:55921059..55923391-chr11:55935211..55936757,2	K562	blood:
3	chr11:55957956..55959587-chr11:55962616..55964605,2	K562	blood:
4	chr11:55957956..55959587-chr11:55962616..55964605,2	K562	blood:
5	chr11:56006842..56008897-chr11:56029755..56032217,2	MCF-7	breast:
6	chr11:55861584..55863423-chr11:55907412..55909639,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR5T2-1	chr11:55972601-55973101	NONHSAT021383

Variant related genes	Relation type
OR5J2	TF binding region
OR5J7P	TF binding region
OR8V1P	TF binding region
OR8J3	TF binding region
OR8J2	TF binding region
ENSG00000213604	TF binding region
OR8K5	TF binding region
OR8K4P	TF binding region
OR5T2	TF binding region
OR5BN1P	TF binding region
OR5J2	CpG island
OR5J7P	CpG island
OR8V1P	CpG island
OR8J3	CpG island
OR8J2	CpG island
ENSG00000213604	CpG island
OR8K5	CpG island
OR8K4P	CpG island
OR5T2	CpG island
OR5BN1P	CpG island

Extended variants
information (count: 374 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:374 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1947923	chr11:55904751-55904752	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369307213	chr11:55904778-55904779	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs373232843	chr11:55904779-55904780	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs146251646	chr11:55904782-55904783	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs139290067	chr11:55904783-55904784	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs376757102	chr11:55904802-55904803	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs189377785	chr11:55904814-55904815	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs11227321	chr11:55904828-55904829	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs533978590	chr11:55904829-55904830	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs201535279	chr11:55904831-55904832	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs7936390	chr11:55904832-55904833	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs567493753	chr11:55905264-55905265	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
13	rs536769141	chr11:55905962-55905963	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs2449138	chr11:55905972-55905973	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs567507645	chr11:55905978-55905979	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs538033046	chr11:55905988-55905989	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs118060806	chr11:55905993-55905994	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs115902334	chr11:55905996-55905997	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs544950178	chr11:55906044-55906045	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs553761733	chr11:55906064-55906065	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs571692122	chr11:55906070-55906071	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs376652413	chr11:55906113-55906114	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs542356716	chr11:55906126-55906127	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs142564593	chr11:55906130-55906131	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs142489321	chr11:55906138-55906139	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs191021480	chr11:55906145-55906146	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs10791829	chr11:55906156-55906157	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs532861492	chr11:55906164-55906165	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs71055574	chr11:55906170-55906171	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs398016099	chr11:55906184-55906185	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs117710887	chr11:55906244-55906245	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs374266909	chr11:55906251-55906252	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs56358425	chr11:55907472-55907473	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs183189912	chr11:55907773-55907774	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs2512932	chr11:55907816-55907817	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs575880806	chr11:55907843-55907844	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs187925270	chr11:55907856-55907857	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs575609399	chr11:55907866-55907867	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs537181214	chr11:55907881-55907882	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs192498159	chr11:55907948-55907949	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs79825887	chr11:55907987-55907988	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs78102985	chr11:55907993-55907994	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs2512931	chr11:55907996-55907997	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs188712298	chr11:55908005-55908006	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs192596783	chr11:55908027-55908028	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs571237394	chr11:55908083-55908084	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs563710948	chr11:55908105-55908106	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs116836798	chr11:55908545-55908546	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs575849186	chr11:55908556-55908557	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs545888391	chr11:55908564-55908565	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
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
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55910400-55910800	Active TSS	Fetal Heart	heart
2	chr11:55919400-55919800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:55939400-55939800	Enhancers	Fetal Intestine Small	intestine
4	chr11:55939400-55940800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:55939400-55940800	Enhancers	Fetal Intestine Large	intestine
6	chr11:55939800-55940200	Enhancers	Brain Substantia Nigra	brain

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