Variant report

Variant	nsv468576
Chromosome Location	chr11:56299930-56420029
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	ARID3A	chr11:56392054-56392405	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:56392115-56392370	K562	blood:	n/a	n/a
3	ATF1	chr11:56416106-56416186	K562	blood:	n/a	n/a
4	ATF2	chr11:56392130-56392439	GM12878	blood:	n/a	n/a
5	ATF3	chr11:56392162-56392399	K562	blood:	n/a	n/a
6	BATF	chr11:56390864-56391136	GM12878	blood:	n/a	chr11:56390998-56391009
7	BATF	chr11:56392069-56392469	GM12878	blood:	n/a	chr11:56392263-56392274 chr11:56392281-56392292
8	BATF	chr11:56392134-56392479	GM12878	blood:	n/a	chr11:56392263-56392274 chr11:56392281-56392292
9	BCL11A	chr11:56392145-56392429	GM12878	blood:	n/a	n/a
10	BCL11A	chr11:56392083-56392500	GM12878	blood:	n/a	n/a
11	BRCA1	chr11:56362076-56362101	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr11:56332491-56332492	A549	lung:	n/a	n/a
13	CEBPB	chr11:56399397-56399674	IMR90	lung:	n/a	chr11:56399532-56399543
14	CEBPB	chr11:56399444-56399543	K562	blood:	n/a	chr11:56399532-56399543
15	CEBPB	chr11:56399354-56399655	HepG2	liver:	n/a	chr11:56399532-56399543
16	CEBPB	chr11:56399395-56399656	A549	lung:	n/a	chr11:56399532-56399543
17	CTCF	chr11:56392124-56392328	LNCaP	prostate:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
18	CTCF	chr11:56392173-56392304	MCF-7	breast:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
19	CTCF	chr11:56392120-56392270	GM06990	blood:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
20	CTCF	chr11:56392140-56392290	Caco-2	colon:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
21	CTCF	chr11:56392100-56392250	AG09319	gingival:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
22	CTCF	chr11:56392140-56392290	GM12873	blood:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
23	CTCF	chr11:56392142-56392314	Pancreas_OC	pancreas:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
24	CTCF	chr11:56392160-56392310	AG10803	skin:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
25	CTCF	chr11:56392061-56392379	A549	lung:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
26	CTCF	chr11:56392060-56392210	NHEK	skin:	n/a	n/a
27	CTCF	chr11:56392060-56392210	HCM	heart:	n/a	n/a
28	CTCF	chr11:56392099-56392311	SK-N-SH_RA	brain:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
29	CTCF	chr11:56392120-56392270	NHEK	skin:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
30	CTCF	chr11:56392220-56392370	GM12866	blood:	n/a	n/a
31	CTCF	chr11:56392120-56392270	GM12872	blood:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
32	CTCF	chr11:56392100-56392250	HBMEC	blood vessel:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
33	CTCF	chr11:56392140-56392290	GM12865	blood:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
34	CTCF	chr11:56392080-56392230	SK-N-SH_RA	brain:	n/a	chr11:56392209-56392227
35	CTCF	chr11:56392140-56392290	BE2_C	brain:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
36	CTCF	chr11:56392007-56392062	GM13977	blood:	n/a	n/a
37	CTCF	chr11:56392140-56392290	GM12872	blood:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
38	CTCF	chr11:56392080-56392230	HFF	foreskin:	n/a	chr11:56392209-56392227
39	CTCF	chr11:56392160-56392310	AG09309	skin:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
40	CTCF	chr11:56392100-56392250	GM12864	blood:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
41	CTCF	chr11:56392085-56392370	A549	lung:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
42	CTCF	chr11:56392140-56392290	NB4	blood:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
43	CTCF	chr11:56392100-56392250	GM12873	blood:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
44	CTCF	chr11:56392120-56392270	RPTEC	kidney:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
45	CTCF	chr11:56392160-56392310	BE2_C	brain:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
46	CTCF	chr11:56392080-56392230	GM12864	blood:	n/a	chr11:56392209-56392227
47	CTCF	chr11:56392140-56392290	HRPEpiC	eye:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
48	CTCF	chr11:56392100-56392250	GM06990	blood:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
49	CTCF	chr11:56392180-56392330	RPTEC	kidney:	n/a	chr11:56392209-56392227 chr11:56392211-56392232
50	CTCF	chr11:56392160-56392310	Hela-S3	cervix:	n/a	chr11:56392209-56392227 chr11:56392211-56392232

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:56381067-56381117	SK-N-SH	brain:	n/a
2	chr11:56381067-56381117	SK-N-SH	brain:	n/a
3	chr11:56411376-56411426	GM12892	blood:	n/a
4	chr11:56381677-56381727	HL-60	blood:	n/a
5	chr11:56381124-56381174	GM12892	blood:	n/a
6	chr11:56381124-56381174	RPTEC	kidney:	n/a
7	chr11:56345354-56345404	Jurkat	blood:	n/a
8	chr11:56409533-56409583	AoSMC	blood vessel:	n/a
9	chr11:56409533-56409583	GM19239	blood:	n/a
10	chr11:56411376-56411426	Hela-S3	cervix:	n/a
11	chr11:56381067-56381117	Caco-2	colon:	n/a
12	chr11:56345354-56345404	NT2-D1	testis:	n/a
13	chr11:56310671-56310721	MCF-7	breast:	n/a
14	chr11:56410673-56410723	H1-hESC	embryonic stem cell:	embryo
15	chr11:56380614-56380664	K562	blood:	n/a
16	chr11:56345862-56345912	HEEpiC	esophagus:	n/a
17	chr11:56381067-56381117	HRE	kidney:	n/a
18	chr11:56311179-56311229	ProgFib	skin:	n/a
19	chr11:56392848-56392898	BJ	skin:	n/a
20	chr11:56345354-56345404	AG04450	lung:	fetal
21	chr11:56311179-56311229	GM19239	blood:	n/a
22	chr11:56344833-56344883	HUVEC	blood vessel:	n/a
23	chr11:56411376-56411426	HRPEpiC	eye:	n/a
24	chr11:56345858-56345908	MCF-7	breast:	n/a
25	chr11:56345858-56345908	HL-60	blood:	n/a
26	chr11:56311179-56311229	HRE	kidney:	n/a
27	chr11:56392848-56392898	LNCaP	prostate:	n/a
28	chr11:56410673-56410723	PrEC	prostate:	n/a
29	chr11:56345354-56345404	AoSMC	blood vessel:	n/a
30	chr11:56345140-56345190	SAEC	small airway:	n/a
31	chr11:56345858-56345908	NB4	blood:	n/a
32	chr11:56381677-56381727	BE2_C	brain:	n/a
33	chr11:56344833-56344883	HEEpiC	esophagus:	n/a
34	chr11:56344833-56344883	HEK293	kidney:	embryo
35	chr11:56381677-56381727	AG04450	lung:	fetal
36	chr11:56311179-56311229	Caco-2	colon:	n/a
37	chr11:56410673-56410723	GM06990	blood:	n/a
38	chr11:56345858-56345908	NHDF-neo	bronchial:	n/a
39	chr11:56345858-56345908	K562	blood:	n/a
40	chr11:56345140-56345190	ovcar-3	ovarian:	n/a
41	chr11:56380614-56380664	RPTEC	kidney:	n/a
42	chr11:56410673-56410723	IMR90	lung:	fetal
43	chr11:56392848-56392898	HCF	heart:	n/a
44	chr11:56344833-56344883	SK-N-MC	brain:	n/a
45	chr11:56411376-56411426	NT2-D1	testis:	n/a
46	chr11:56392848-56392898	HepG2	liver:	n/a
47	chr11:56345140-56345190	LNCaP	prostate:	n/a
48	chr11:56381067-56381117	ProgFib	skin:	n/a
49	chr11:56310671-56310721	HMEC	breast:	n/a
50	chr11:56381677-56381727	HCT-116	colon:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:56391852..56392531-chr11:56550628..56551135,2	MCF-7	breast:
2	chr11:56415487..56417805-chr11:56427719..56429875,2	K562	blood:
3	chr11:56402833..56405618-chr11:56410277..56412823,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR5AR1-1	chr11:56399649-56402130	ucscGeneNc_uc001njj_1
2	lnc-OR5AR1-1	chr11:56372530-56372667	ucscGeneNc_uc001njj_1
3	lnc-OR5AR1-1	chr11:56395143-56395303	ucscGeneNc_uc001njj_1

Variant related genes	Relation type
OR5M13P	TF binding region
OR5AM1P	TF binding region
ENSG00000263546	TF binding region
OR5M11	TF binding region
OR5M12P	TF binding region
OR5M1	TF binding region
OR5M5P	TF binding region
OR5AP1P	TF binding region
OR5M10	TF binding region
OR5AP2	TF binding region
OR5M13P	CpG island
OR5AM1P	CpG island
ENSG00000263546	CpG island
OR5M11	CpG island
OR5M12P	CpG island
OR5M1	CpG island
OR5M5P	CpG island
OR5AP1P	CpG island
OR5M10	CpG island
OR5AP2	CpG island
ENSG00000263546	chromatin interactions

Extended variants
information (count: 993 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:993 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs588805	chr11:56299930-56299931	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs545117658	chr11:56299951-56299952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556242129	chr11:56299979-56299980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527705982	chr11:56300006-56300007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540503862	chr11:56300026-56300027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs193297592	chr11:56300027-56300028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115536663	chr11:56300033-56300034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11606988	chr11:56300082-56300083	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs541812220	chr11:56300088-56300089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533025372	chr11:56300108-56300109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551530206	chr11:56300109-56300110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs55677906	chr11:56300131-56300132	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs655779	chr11:56300181-56300182	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs371941751	chr11:56300222-56300223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556023649	chr11:56300234-56300235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184655034	chr11:56300254-56300255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs151142612	chr11:56300266-56300267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189005537	chr11:56300295-56300296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541729106	chr11:56300296-56300297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79370166	chr11:56300306-56300307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577840479	chr11:56300311-56300312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs61904064	chr11:56300342-56300343	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs553880156	chr11:56300348-56300349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140224636	chr11:56300373-56300374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542699984	chr11:56300399-56300400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150319485	chr11:56300429-56300430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191985368	chr11:56300457-56300458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544509485	chr11:56300476-56300477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562644653	chr11:56300477-56300478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184003304	chr11:56300499-56300500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551493505	chr11:56300516-56300517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs61904065	chr11:56300547-56300548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs61904066	chr11:56300549-56300550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527385708	chr11:56300576-56300577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549857484	chr11:56300648-56300649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189690908	chr11:56300686-56300687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs56078926	chr11:56300800-56300801	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs538131517	chr11:56300810-56300811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181242387	chr11:56300827-56300828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529043112	chr11:56300882-56300883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs656565	chr11:56300884-56300885	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs538884356	chr11:56300889-56300890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565699213	chr11:56300916-56300917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142120880	chr11:56300923-56300924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572401209	chr11:56300961-56300962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536759834	chr11:56300999-56301000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554632476	chr11:56301014-56301015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186278809	chr11:56301015-56301016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528348335	chr11:56301019-56301020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544503484	chr11:56301020-56301021	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56298400-56302000	Enhancers	Fetal Intestine Large	intestine
2	chr11:56299400-56301200	Enhancers	Fetal Intestine Small	intestine
3	chr11:56299800-56300600	Enhancers	Colonic Mucosa	Colon
4	chr11:56299800-56300600	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr11:56299800-56301000	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr11:56300400-56300800	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr11:56312800-56313400	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr11:56322600-56322800	Enhancers	A549	lung
9	chr11:56326200-56326600	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr11:56342200-56345000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr11:56349400-56349600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:56351000-56351200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr11:56387200-56388000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr11:56388000-56392200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr11:56391800-56392800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr11:56392000-56392600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr11:56392000-56392600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr11:56392000-56392800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr11:56392000-56392800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:56392200-56392600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr11:56392200-56392600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr11:56392200-56392800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr11:56392400-56392600	Flanking Active TSS	A549	lung
24	chr11:56392600-56392800	Enhancers	A549	lung
25	chr11:56409200-56409800	Active TSS	Brain Substantia Nigra	brain
26	chr11:56417400-56419000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:56418600-56419200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr11:56419200-56427200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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