Variant report

Variant	nsv975361
Chromosome Location	chr11:57761225-57786621
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	CTCF	chr11:57773284-57773310	Lung_OC	lung:	n/a	n/a
2	CTCF	chr11:57768852-57768902	GM13976	blood:	n/a	n/a
3	CTCF	chr11:57769476-57769531	GM20000	blood:	n/a	n/a
4	CTCF	chr11:57772180-57772330	HRPEpiC	eye:	n/a	n/a
5	CTCF	chr11:57776720-57776870	HRPEpiC	eye:	n/a	n/a
6	CTCF	chr11:57775077-57775146	Fibrobl	skin:	n/a	n/a
7	CTCF	chr11:57779628-57779656	Lung_OC	lung:	n/a	n/a
8	E2F4	chr11:57774523-57774710	MCF10A-Er-Src	breast:	n/a	n/a
9	EP300	chr11:57776871-57776917	K562	blood:	n/a	n/a
10	EP300	chr11:57771977-57772535	HepG2	liver:	n/a	chr11:57772290-57772299 chr11:57772292-57772306
11	FOS	chr11:57774470-57774795	MCF10A-Er-Src	breast:	n/a	chr11:57774650-57774661 chr11:57774647-57774658 chr11:57774648-57774657 chr11:57774649-57774658
12	FOS	chr11:57773121-57773313	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr11:57774448-57774812	MCF10A-Er-Src	breast:	n/a	chr11:57774650-57774661 chr11:57774647-57774658 chr11:57774648-57774657 chr11:57774649-57774658
14	FOS	chr11:57770138-57770907	HUVEC	blood vessel:	n/a	chr11:57770319-57770330 chr11:57770678-57770687
15	FOS	chr11:57773167-57773364	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr11:57774475-57774815	MCF10A-Er-Src	breast:	n/a	chr11:57774650-57774661 chr11:57774647-57774658 chr11:57774648-57774657 chr11:57774649-57774658
17	FOS	chr11:57774423-57774863	HUVEC	blood vessel:	n/a	chr11:57774650-57774661 chr11:57774647-57774658 chr11:57774648-57774657 chr11:57774649-57774658
18	FOS	chr11:57772018-57772586	HUVEC	blood vessel:	n/a	n/a
19	FOS	chr11:57774434-57774823	MCF10A-Er-Src	breast:	n/a	chr11:57774650-57774661 chr11:57774647-57774658 chr11:57774648-57774657 chr11:57774649-57774658
20	FOSL2	chr11:57774440-57774778	HepG2	liver:	n/a	chr11:57774650-57774661 chr11:57774648-57774657 chr11:57774649-57774658
21	FOXA1	chr11:57767076-57767284	HepG2	liver:	n/a	n/a
22	FOXA1	chr11:57767042-57767325	HepG2	liver:	n/a	n/a
23	FOXA1	chr11:57779162-57779544	HepG2	liver:	n/a	chr11:57779321-57779333
24	FOXA1	chr11:57779264-57779564	HepG2	liver:	n/a	chr11:57779321-57779333
25	FOXA1	chr11:57779146-57779535	HepG2	liver:	n/a	chr11:57779321-57779333
26	FOXA2	chr11:57779193-57779561	HepG2	liver:	n/a	chr11:57779321-57779333
27	FOXA2	chr11:57767040-57767387	A549	lung:	n/a	n/a
28	FOXA2	chr11:57766846-57767429	A549	lung:	n/a	n/a
29	GATA2	chr11:57770497-57772626	HUVEC	blood vessel:	n/a	chr11:57770677-57770687 chr11:57772312-57772322 chr11:57772288-57772298
30	HEY1	chr11:57767491-57767667	K562	blood:	n/a	n/a
31	IRF1	chr11:57785384-57785486	K562	blood:	n/a	n/a
32	JUN	chr11:57771859-57772532	HUVEC	blood vessel:	n/a	n/a
33	JUN	chr11:57770509-57771390	HUVEC	blood vessel:	n/a	chr11:57770678-57770687
34	JUN	chr11:57774484-57774817	HUVEC	blood vessel:	n/a	chr11:57774650-57774661 chr11:57774648-57774657 chr11:57774649-57774658
35	JUND	chr11:57771129-57771278	HepG2	liver:	n/a	n/a
36	JUND	chr11:57774553-57774668	HepG2	liver:	n/a	chr11:57774650-57774661 chr11:57774648-57774657 chr11:57774649-57774658
37	MAFF	chr11:57767719-57767985	HepG2	liver:	n/a	chr11:57767859-57767877
38	MAFK	chr11:57767752-57767983	HepG2	liver:	n/a	chr11:57767860-57767875
39	MAFK	chr11:57767728-57768014	HepG2	liver:	n/a	chr11:57767860-57767875
40	MAFK	chr11:57774057-57774157	HepG2	liver:	n/a	n/a
41	MYC	chr11:57772158-57772468	HUVEC	blood vessel:	n/a	n/a
42	MYC	chr11:57774363-57774476	MCF10A-Er-Src	breast:	n/a	n/a
43	MYC	chr11:57774432-57774723	MCF10A-Er-Src	breast:	n/a	chr11:57774649-57774658
44	POLR2A	chr11:57784191-57784530	SK-N-MC	brain:	n/a	n/a
45	POLR2A	chr11:57772184-57772548	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr11:57770347-57770987	HUVEC	blood vessel:	n/a	n/a
47	POLR2A	chr11:57767148-57767182	MCF-7	breast:	n/a	n/a
48	POLR2A	chr11:57767119-57767281	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr11:57772175-57772506	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr11:57772036-57772548	HUVEC	blood vessel:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:57767340-57767390	AG10803	skin:	n/a
2	chr11:57767340-57767390	SK-N-SH_RA	brain:	n/a
3	chr11:57767340-57767390	U87	brain:	n/a
4	chr11:57767340-57767390	HNPCEpiC	eye:	n/a
5	chr11:57767340-57767390	GM19239	blood:	n/a
6	chr11:57767340-57767390	IMR90	lung:	fetal
7	chr11:57767340-57767390	SKMC	muscle:	n/a
8	chr11:57767340-57767390	HRCEpiC	kidney:	n/a
9	chr11:57767340-57767390	ProgFib	skin:	n/a
10	chr11:57767340-57767390	PANC-1	pancreas:	n/a
11	chr11:57767340-57767390	HMEC	breast:	n/a
12	chr11:57767340-57767390	HEEpiC	esophagus:	n/a
13	chr11:57767340-57767390	AG04449	skin:	fetal
14	chr11:57767340-57767390	ovcar-3	ovarian:	n/a
15	chr11:57767340-57767390	Jurkat	blood:	n/a
16	chr11:57767340-57767390	Caco-2	colon:	n/a
17	chr11:57767340-57767390	HEK293	kidney:	embryo
18	chr11:57767340-57767390	HCT-116	colon:	n/a
19	chr11:57767340-57767390	SAEC	small airway:	n/a
20	chr11:57767340-57767390	GM06990	blood:	n/a
21	chr11:57767340-57767390	HRE	kidney:	n/a
22	chr11:57767340-57767390	AoSMC	blood vessel:	n/a
23	chr11:57767340-57767390	PFSK-1	brain:	n/a
24	chr11:57767340-57767390	NHDF-neo	bronchial:	n/a
25	chr11:57767340-57767390	HRPEpiC	eye:	n/a
26	chr11:57767340-57767390	HepG2	liver:	n/a
27	chr11:57767340-57767390	MCF-7	breast:	n/a
28	chr11:57767340-57767390	AG09309	skin:	n/a
29	chr11:57767340-57767390	HCF	heart:	n/a
30	chr11:57767340-57767390	AG09319	gingival:	n/a
31	chr11:57767340-57767390	HCPEpiC	choroid plexus:	n/a
32	chr11:57767340-57767390	AG04450	lung:	fetal
33	chr11:57767340-57767390	GM12891	blood:	n/a
34	chr11:57767340-57767390	HIPEpiC	eye:	n/a
35	chr11:57767340-57767390	SK-N-MC	brain:	n/a
36	chr11:57767340-57767390	SK-N-SH	brain:	n/a
37	chr11:57767340-57767390	HUVEC	blood vessel:	n/a
38	chr11:57767340-57767390	CMK	blood:	n/a
39	chr11:57767340-57767390	BJ	skin:	n/a
40	chr11:57767340-57767390	NB4	blood:	n/a
41	chr11:57767340-57767390	MCF10A-Er-Src	breast:	n/a
42	chr11:57767340-57767390	HL-60	blood:	n/a
43	chr11:57767340-57767390	PrEC	prostate:	n/a
44	chr11:57767340-57767390	GM12878	blood:	n/a
45	chr11:57767340-57767390	K562	blood:	n/a
46	chr11:57767340-57767390	RPTEC	kidney:	n/a
47	chr11:57767340-57767390	H1-hESC	embryonic stem cell:	embryo
48	chr11:57767340-57767390	NHBE	bronchial:	n/a
49	chr11:57767340-57767390	HCM	heart:	n/a
50	chr11:57767340-57767390	BE2_C	brain:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR9Q1-1	chr11:57772858-57773177	NONHSAT021460

Variant related genes	Relation type
OR9Q1	TF binding region
CYCSP26	TF binding region
OR9Q1	CpG island
CYCSP26	CpG island

Extended variants
information (count: 508 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:508 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144117736	chr11:57767803-57767804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75266205	chr11:57767826-57767827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs71061561	chr11:57768008-57768009	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs398016159	chr11:57768021-57768022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7925491	chr11:57768046-57768047	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs146879204	chr11:57768058-57768059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568380377	chr11:57768059-57768060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543560186	chr11:57768099-57768100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564847218	chr11:57768144-57768145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576887522	chr11:57768155-57768156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541057882	chr11:57768160-57768161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs79628100	chr11:57768199-57768200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs55920197	chr11:57768208-57768209	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs149454963	chr11:57768229-57768230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6591449	chr11:57768275-57768276	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs573003864	chr11:57768282-57768283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73474476	chr11:57768291-57768292	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs564347221	chr11:57768297-57768298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187747725	chr11:57768300-57768301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571440480	chr11:57768346-57768347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77494795	chr11:57768390-57768391	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs372267492	chr11:57768400-57768401	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs566194678	chr11:57768401-57768402	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs536962308	chr11:57768464-57768465	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs555167192	chr11:57768528-57768529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547520113	chr11:57768553-57768554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10750876	chr11:57768554-57768555	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs558673002	chr11:57768571-57768572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191967043	chr11:57768586-57768587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540670992	chr11:57768605-57768606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538710883	chr11:57768626-57768627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558647150	chr11:57768628-57768629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143980141	chr11:57768632-57768633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544233283	chr11:57768663-57768664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541740780	chr11:57768705-57768706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528346538	chr11:57768722-57768723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs80235804	chr11:57768775-57768776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530601124	chr11:57768838-57768839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538272389	chr11:57768845-57768846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148632710	chr11:57768855-57768856	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs141783711	chr11:57768861-57768862	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs34015013	chr11:57768862-57768863	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs575124390	chr11:57768887-57768888	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs547433676	chr11:57768938-57768939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183883516	chr11:57769007-57769008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530302862	chr11:57769008-57769009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188530712	chr11:57769021-57769022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76474360	chr11:57769039-57769040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192074210	chr11:57769067-57769068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs207471929	chr11:57769104-57769105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57767800-57769000	Enhancers	HepG2	liver
2	chr11:57768600-57770600	Enhancers	HUVEC	blood vessel
3	chr11:57769000-57771800	Weak transcription	HepG2	liver
4	chr11:57769400-57771000	Enhancers	Left Ventricle	heart
5	chr11:57769800-57771000	Enhancers	Adipose Nuclei	Adipose
6	chr11:57770200-57770400	Enhancers	Right Atrium	heart
7	chr11:57770200-57771000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr11:57770400-57772200	Weak transcription	Right Atrium	heart
9	chr11:57770600-57771000	Flanking Active TSS	HUVEC	blood vessel
10	chr11:57771000-57772600	Weak transcription	Adipose Nuclei	Adipose
11	chr11:57771000-57772600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr11:57771000-57772600	Enhancers	HUVEC	blood vessel
13	chr11:57771000-57774200	Weak transcription	Left Ventricle	heart
14	chr11:57771800-57772600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:57771800-57772600	Enhancers	HepG2	liver
16	chr11:57772200-57772400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:57772200-57772400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:57772200-57772600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr11:57772200-57772800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr11:57772200-57772800	Enhancers	Right Atrium	heart
21	chr11:57772400-57773400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:57772400-57774200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:57772600-57772800	Enhancers	Psoas Muscle	Psoas
24	chr11:57772600-57773000	Enhancers	Adipose Nuclei	Adipose
25	chr11:57772600-57773000	Flanking Active TSS	HUVEC	blood vessel
26	chr11:57772600-57773200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr11:57772600-57779000	Weak transcription	HepG2	liver
28	chr11:57772800-57773200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr11:57772800-57774200	Weak transcription	Right Atrium	heart
30	chr11:57773000-57774800	Enhancers	HUVEC	blood vessel
31	chr11:57773200-57774200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr11:57773200-57774400	Weak transcription	Psoas Muscle	Psoas
33	chr11:57773400-57773800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:57773800-57775200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:57774200-57774600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr11:57774200-57774600	Enhancers	Left Ventricle	heart
37	chr11:57774200-57774800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr11:57774200-57774800	Enhancers	Esophagus	oesophagus
39	chr11:57774200-57774800	Enhancers	Right Atrium	heart
40	chr11:57774200-57774800	Enhancers	Right Ventricle	heart
41	chr11:57774200-57775000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:57774400-57774800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:57774400-57774800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:57774400-57774800	Enhancers	Psoas Muscle	Psoas
45	chr11:57774600-57774800	Enhancers	Adipose Nuclei	Adipose
46	chr11:57779000-57779800	Enhancers	HepG2	liver
47	chr11:57785600-57785800	Enhancers	Pancreas	Pancrea
48	chr11:57785800-57786000	Enhancers	Left Ventricle	heart
49	chr11:57785800-57791400	Weak transcription	Pancreas	Pancrea
50	chr11:57786000-57787200	Weak transcription	Left Ventricle	heart

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