Variant report

Variant	nsv1039453
Chromosome Location	chr11:57924680-58119650
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:559)
CpG islands
(count:1955)
Chromatin interactive
region (count:4)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:559 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:57932975-57933388	HepG2	liver:	n/a	n/a
2	BACH1	chr11:57963487-57963614	K562	blood:	n/a	n/a
3	CEBPB	chr11:57941813-57942112	HepG2	liver:	n/a	chr11:57941976-57941987
4	CEBPB	chr11:58085910-58086442	IMR90	lung:	n/a	n/a
5	CEBPB	chr11:58119335-58119476	HepG2	liver:	n/a	chr11:58119414-58119425
6	CEBPB	chr11:58058028-58058221	HepG2	liver:	n/a	n/a
7	CEBPB	chr11:57932759-57933412	HepG2	liver:	n/a	chr11:57933335-57933346
8	CEBPB	chr11:58033343-58033456	K562	blood:	n/a	n/a
9	CEBPB	chr11:58102229-58102855	IMR90	lung:	n/a	n/a
10	CEBPB	chr11:58098275-58098347	HepG2	liver:	n/a	chr11:58098321-58098332
11	CEBPB	chr11:57948145-57948399	HepG2	liver:	n/a	n/a
12	CEBPB	chr11:57941847-57942073	A549	lung:	n/a	chr11:57941976-57941987
13	CEBPB	chr11:58065186-58065372	IMR90	lung:	n/a	n/a
14	CEBPB	chr11:57932980-57933384	HepG2	liver:	n/a	chr11:57933335-57933346
15	CEBPB	chr11:58058030-58058219	A549	lung:	n/a	n/a
16	CEBPB	chr11:58098194-58098587	IMR90	lung:	n/a	chr11:58098321-58098332
17	CEBPB	chr11:57934976-57935084	HepG2	liver:	n/a	chr11:57935022-57935033
18	CEBPB	chr11:57932970-57933434	HepG2	liver:	n/a	chr11:57933335-57933346
19	CEBPB	chr11:57959325-57959513	HepG2	liver:	n/a	chr11:57959408-57959419 chr11:57959450-57959462
20	CEBPB	chr11:58119258-58119569	HepG2	liver:	n/a	chr11:58119414-58119425
21	CEBPB	chr11:58033283-58033543	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr11:57933895-57934195	HepG2	liver:	n/a	chr11:57934032-57934043
23	CEBPB	chr11:57933268-57933270	IMR90	lung:	n/a	n/a
24	CEBPB	chr11:57933976-57934113	A549	lung:	n/a	chr11:57934032-57934043
25	CEBPB	chr11:57933079-57933336	HepG2	liver:	n/a	n/a
26	CTCF	chr11:58053840-58053990	RPTEC	kidney:	n/a	n/a
27	CTCF	chr11:58053809-58053981	SK-N-SH_RA	brain:	n/a	n/a
28	CTCF	chr11:58053860-58054010	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chr11:58053820-58053970	GM12866	blood:	n/a	n/a
30	CTCF	chr11:58053800-58054043	A549	lung:	n/a	n/a
31	CTCF	chr11:58053900-58054050	GM12870	blood:	n/a	n/a
32	CTCF	chr11:58053820-58053970	HBMEC	blood vessel:	n/a	n/a
33	CTCF	chr11:58053812-58054035	MCF-7	breast:	n/a	n/a
34	CTCF	chr11:58053784-58054033	K562	blood:	n/a	n/a
35	CTCF	chr11:58053793-58054043	A549	lung:	n/a	n/a
36	CTCF	chr11:58053820-58053970	GM12873	blood:	n/a	n/a
37	CTCF	chr11:58053820-58053970	GM12874	blood:	n/a	n/a
38	CTCF	chr11:58053838-58054036	Spleen_OC	spleen:	n/a	n/a
39	CTCF	chr11:58053880-58054030	HMEC	breast:	n/a	n/a
40	CTCF	chr11:58053807-58054060	HepG2	liver:	n/a	n/a
41	CTCF	chr11:58053880-58054030	GM06990	blood:	n/a	n/a
42	CTCF	chr11:58053809-58054057	GM13977	blood:	n/a	n/a
43	CTCF	chr11:58053601-58054160	SK-N-SH	brain:	n/a	n/a
44	CTCF	chr11:58052980-58053130	GM06990	blood:	n/a	n/a
45	CTCF	chr11:58053927-58053942	MCF-7	breast:	n/a	n/a
46	CTCF	chr11:58053763-58054016	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr11:58053821-58054021	GM19239	blood:	n/a	n/a
48	CTCF	chr11:58053860-58054010	GM12873	blood:	n/a	n/a
49	CTCF	chr11:58053880-58054030	HPAF	blood vessel:	n/a	n/a
50	CTCF	chr11:57926780-57926930	NB4	blood:	n/a	n/a

(count:1955 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:57996557-57996607	AG09309	skin:	n/a
2	chr11:57982664-57982714	K562	blood:	n/a
3	chr11:57957575-57957625	ProgFib	skin:	n/a
4	chr11:57996557-57996607	AG09309	skin:	n/a
5	chr11:57982664-57982714	K562	blood:	n/a
6	chr11:57957575-57957625	ProgFib	skin:	n/a
7	chr11:57945730-57945780	NH-A	brain:	n/a
8	chr11:57981267-57981317	NH-A	brain:	n/a
9	chr11:57948705-57948755	SAEC	small airway:	n/a
10	chr11:57957820-57957870	BJ	skin:	n/a
11	chr11:57982664-57982714	HRPEpiC	eye:	n/a
12	chr11:57981245-57981295	SAEC	small airway:	n/a
13	chr11:57995632-57995682	NB4	blood:	n/a
14	chr11:58085823-58085873	HAEpiC	amniotic membrane:	n/a
15	chr11:58034405-58034455	PFSK-1	brain:	n/a
16	chr11:58036997-58037047	AG04449	skin:	fetal
17	chr11:57958333-57958383	HCM	heart:	n/a
18	chr11:57995828-57995878	HepG2	liver:	n/a
19	chr11:57996371-57996421	PrEC	prostate:	n/a
20	chr11:58085823-58085873	HNPCEpiC	eye:	n/a
21	chr11:57958248-57958298	GM12891	blood:	n/a
22	chr11:57995632-57995682	NHBE	bronchial:	n/a
23	chr11:57956794-57956844	SK-N-MC	brain:	n/a
24	chr11:57995971-57996021	HPAEpiC	pulmonary alveolar:	n/a
25	chr11:57995632-57995682	HCPEpiC	choroid plexus:	n/a
26	chr11:57958183-57958233	HepG2	liver:	n/a
27	chr11:57946199-57946249	HCT-116	colon:	n/a
28	chr11:58085823-58085873	GM06990	blood:	n/a
29	chr11:57957820-57957870	HEK293	kidney:	embryo
30	chr11:58059666-58059716	HCF	heart:	n/a
31	chr11:57981245-57981295	SK-N-MC	brain:	n/a
32	chr11:57971290-57971340	RPTEC	kidney:	n/a
33	chr11:57996369-57996419	HCM	heart:	n/a
34	chr11:57957575-57957625	H1-hESC	embryonic stem cell:	embryo
35	chr11:57995971-57996021	AG10803	skin:	n/a
36	chr11:57958333-57958383	T-47D	breast:	n/a
37	chr11:57982664-57982714	HRE	kidney:	n/a
38	chr11:57972613-57972663	Hepatocyte	liver:	n/a
39	chr11:58059666-58059716	HNPCEpiC	eye:	n/a
40	chr11:58036997-58037047	PANC-1	pancreas:	n/a
41	chr11:57995971-57996021	HEK293	kidney:	embryo
42	chr11:57972167-57972217	NHDF-neo	bronchial:	n/a
43	chr11:57981267-57981317	AG10803	skin:	n/a
44	chr11:58085823-58085873	HL-60	blood:	n/a
45	chr11:58037105-58037155	HCPEpiC	choroid plexus:	n/a
46	chr11:57996369-57996419	HRPEpiC	eye:	n/a
47	chr11:57971290-57971340	HRPEpiC	eye:	n/a
48	chr11:57972167-57972217	HPAEpiC	pulmonary alveolar:	n/a
49	chr11:58085823-58085873	HCF	heart:	n/a
50	chr11:57972613-57972663	HUVEC	blood vessel:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:57933220..57935191-chr11:57939017..57941040,2	K562	blood:
2	chr11:57933220..57935191-chr11:57939017..57941040,2	K562	blood:
3	chr11:58098532..58100189-chr11:58104591..58107820,3	K562	blood:
4	chr11:58098532..58100189-chr11:58104591..58107820,3	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR10Q1-1	chr11:58002206-58002441	XLOC_009444
2	lnc-OR10Q1-2	chr11:58009515-58010569	NONHSAT021466
3	lnc-OR10Q1-1	chr11:58006103-58006146	XLOC_009444
4	lnc-OR1S1-1	chr11:58102524-58102792	expReg_chr11_4582_+

No data

Variant related genes	Relation type
OR5BL1P	TF binding region
OR1S1	TF binding region
OR5BC1P	TF binding region
OR10Q2P	TF binding region
OR1S2	TF binding region
OR10W1	TF binding region
OR5B19P	TF binding region
EIF4A2P3	TF binding region
OR9Q2	TF binding region
OR5B10P	TF binding region
OR10Q1	TF binding region
OR5BL1P	CpG island
OR1S1	CpG island
OR5BC1P	CpG island
OR10Q2P	CpG island
OR1S2	CpG island
OR10W1	CpG island
OR5B19P	CpG island
EIF4A2P3	CpG island
OR9Q2	CpG island
OR5B10P	CpG island
OR10Q1	CpG island

Extended variants
information (count: 3807 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:3807 , 50 per page) page: 1 2 3 4 5 6 7 ... 77

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs964720	chr11:57930210-57930211	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542381317	chr11:57930219-57930220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560785056	chr11:57930240-57930241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574060310	chr11:57930275-57930276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544429063	chr11:57930325-57930326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562895365	chr11:57930356-57930357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs17152435	chr11:57930405-57930406	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs77440328	chr11:57930410-57930411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571682392	chr11:57930435-57930436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539004841	chr11:57930469-57930470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544881394	chr11:57930497-57930498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75927863	chr11:57930520-57930521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76280505	chr11:57930526-57930527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549576183	chr11:57930530-57930531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567904443	chr11:57930553-57930554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs180953786	chr11:57930639-57930640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549569917	chr11:57930759-57930760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1349481	chr11:57930762-57930763	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs538229400	chr11:57930809-57930810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149280009	chr11:57930860-57930861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536371091	chr11:57930957-57930958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571994507	chr11:57931021-57931022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368543117	chr11:57931105-57931106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371439300	chr11:57931164-57931165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376085327	chr11:57931183-57931184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536170895	chr11:57931205-57931206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1451324	chr11:57931227-57931228	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs74416926	chr11:57931235-57931236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143485440	chr11:57931247-57931248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148045763	chr11:57931255-57931256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185176459	chr11:57931298-57931299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs578058659	chr11:57931344-57931345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545402590	chr11:57931379-57931380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79971017	chr11:57931442-57931443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141728549	chr11:57931466-57931467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532204191	chr11:57931541-57931542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs17152440	chr11:57931544-57931545	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs374895749	chr11:57931566-57931567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74330776	chr11:57931586-57931587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550372036	chr11:57931600-57931601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113538643	chr11:57931606-57931607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141820896	chr11:57931630-57931631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546968426	chr11:57931637-57931638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192443861	chr11:57931703-57931704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536134113	chr11:57931710-57931711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531504022	chr11:57931716-57931717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2218867	chr11:57931854-57931855	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs182018442	chr11:57931873-57931874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558749163	chr11:57931880-57931881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187169191	chr11:57931889-57931890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Glioblastoma multiforme	21138945	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	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
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57930200-57933600	Enhancers	Fetal Intestine Small	intestine
2	chr11:57930800-57931000	Enhancers	Small Intestine	intestine
3	chr11:57930800-57933200	Enhancers	Duodenum Mucosa	Duodenum
4	chr11:57930800-57935400	Enhancers	HepG2	liver
5	chr11:57931000-57931400	Enhancers	Brain Germinal Matrix	brain
6	chr11:57931000-57932200	Enhancers	Pancreas	Pancrea
7	chr11:57931000-57932600	Weak transcription	Small Intestine	intestine
8	chr11:57931000-57934400	Enhancers	Fetal Intestine Large	intestine
9	chr11:57931200-57931600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr11:57931400-57932200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:57931400-57932600	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr11:57931600-57932400	Enhancers	Esophagus	oesophagus
13	chr11:57931800-57932600	Enhancers	Stomach Mucosa	stomach
14	chr11:57932000-57933400	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr11:57932600-57934200	Enhancers	Small Intestine	intestine
16	chr11:57934400-57939200	Weak transcription	Fetal Intestine Large	intestine
17	chr11:57938800-57939200	Enhancers	Pancreas	Pancrea
18	chr11:57938800-57939400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr11:57939200-57939800	Enhancers	Fetal Intestine Large	intestine
20	chr11:57941200-57942000	Enhancers	HepG2	liver
21	chr11:57942800-57943600	Enhancers	Brain Germinal Matrix	brain
22	chr11:57943000-57943800	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr11:57944000-57944400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:57945800-57946200	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr11:57947000-57947600	Enhancers	HepG2	liver
26	chr11:57947200-57947400	Enhancers	Pancreas	Pancrea
27	chr11:57947400-57947600	Weak transcription	Pancreas	Pancrea
28	chr11:57947600-57952400	Weak transcription	HepG2	liver
29	chr11:57952400-57953200	Enhancers	HepG2	liver
30	chr11:57956800-57958200	Enhancers	Small Intestine	intestine
31	chr11:57956800-57959600	Enhancers	Duodenum Mucosa	Duodenum
32	chr11:57957000-57957400	Enhancers	HepG2	liver
33	chr11:57957200-57958800	Weak transcription	Stomach Mucosa	stomach
34	chr11:57957400-57959800	Weak transcription	HepG2	liver
35	chr11:57957600-57957800	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr11:57957600-57957800	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr11:57957800-57960200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr11:57958000-57958200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:57958000-57958800	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr11:57958400-57959600	Enhancers	Fetal Intestine Large	intestine
41	chr11:57958400-57959600	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr11:57958600-57959600	Enhancers	Fetal Intestine Small	intestine
43	chr11:57959600-57960000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr11:57959600-57960000	Weak transcription	Fetal Intestine Large	intestine
45	chr11:57959600-57960000	Weak transcription	Fetal Intestine Small	intestine
46	chr11:57959600-57960000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr11:57959800-57960000	Enhancers	HepG2	liver
48	chr11:57960000-57960200	Enhancers	Duodenum Mucosa	Duodenum
49	chr11:57960000-57961400	Enhancers	Fetal Intestine Small	intestine
50	chr11:57960000-57961400	Enhancers	Rectal Mucosa Donor 31	rectum

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