Variant report

Variant	esv1823937
Chromosome Location	chr11:71321206-71347525
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:116)
CpG islands
(count:1161)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:116 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:71328834-71328851	K562	blood:	n/a	n/a
2	BATF	chr11:71325884-71326044	GM12878	blood:	n/a	n/a
3	BATF	chr11:71325819-71326075	GM12878	blood:	n/a	n/a
4	BHLHE40	chr11:71325637-71325647	HepG2	liver:	n/a	n/a
5	CEBPB	chr11:71347119-71347330	K562	blood:	n/a	n/a
6	CEBPB	chr11:71347151-71347418	K562	blood:	n/a	n/a
7	CEBPB	chr11:71344578-71344792	K562	blood:	n/a	chr11:71344746-71344757
8	CEBPB	chr11:71344666-71344841	IMR90	lung:	n/a	chr11:71344746-71344757
9	CEBPB	chr11:71344592-71344855	HepG2	liver:	n/a	chr11:71344746-71344757
10	CEBPB	chr11:71344744-71344773	Hela-S3	cervix:	n/a	chr11:71344746-71344757
11	CTCF	chr11:71325776-71326009	A549	lung:	n/a	n/a
12	CTCF	chr11:71322646-71322694	GM20000	blood:	n/a	n/a
13	CTCF	chr11:71325778-71325975	A549	lung:	n/a	n/a
14	CTCF	chr11:71342687-71342712	Lung_OC	lung:	n/a	n/a
15	CTCF	chr11:71345775-71345787	GM10266	blood:	n/a	n/a
16	CTCF	chr11:71331718-71331824	GM10248	blood:	n/a	n/a
17	ELF1	chr11:71341176-71341372	K562	blood:	n/a	chr11:71341309-71341322
18	ELF1	chr11:71323104-71323335	K562	blood:	n/a	n/a
19	ELF1	chr11:71341153-71341407	K562	blood:	n/a	chr11:71341309-71341322
20	ELF1	chr11:71341199-71341355	HepG2	liver:	n/a	chr11:71341309-71341322
21	ELF1	chr11:71341156-71341367	GM12878	blood:	n/a	chr11:71341309-71341322
22	FOSL2	chr11:71325745-71326206	HepG2	liver:	n/a	n/a
23	FOSL2	chr11:71322543-71324084	HepG2	liver:	n/a	chr11:71323605-71323616
24	FOSL2	chr11:71325766-71326152	HepG2	liver:	n/a	n/a
25	FOSL2	chr11:71323336-71323831	HepG2	liver:	n/a	chr11:71323605-71323616
26	FOXA1	chr11:71325440-71325908	HepG2	liver:	n/a	n/a
27	FOXA1	chr11:71322529-71323005	HepG2	liver:	n/a	n/a
28	FOXA1	chr11:71325351-71326033	HepG2	liver:	n/a	n/a
29	FOXA1	chr11:71322534-71322825	HepG2	liver:	n/a	n/a
30	FOXA1	chr11:71325456-71325917	HepG2	liver:	n/a	n/a
31	FOXA1	chr11:71322588-71322823	HepG2	liver:	n/a	n/a
32	FOXA1	chr11:71323068-71323685	HepG2	liver:	n/a	n/a
33	FOXA1	chr11:71322533-71322824	HepG2	liver:	n/a	n/a
34	FOXP2	chr11:71347341-71347574	SK-N-MC	brain:	n/a	n/a
35	GABPA	chr11:71340208-71340381	HepG2	liver:	n/a	n/a
36	GABPA	chr11:71347398-71347527	Hela-S3	cervix:	n/a	n/a
37	GATA3	chr11:71326090-71326362	T-47D	breast:	n/a	n/a
38	GATA3	chr11:71326082-71326353	T-47D	breast:	n/a	n/a
39	HCFC1	chr11:71341103-71341482	K562	blood:	n/a	n/a
40	HEY1	chr11:71325444-71325581	HepG2	liver:	n/a	n/a
41	HEY1	chr11:71324968-71325387	HepG2	liver:	n/a	n/a
42	HEY1	chr11:71324945-71325533	HepG2	liver:	n/a	n/a
43	HNF4A	chr11:71325017-71325284	HepG2	liver:	n/a	chr11:71325144-71325159
44	HNF4A	chr11:71325029-71325349	HepG2	liver:	n/a	chr11:71325144-71325159
45	HNF4G	chr11:71325052-71325277	HepG2	liver:	n/a	chr11:71325145-71325160
46	JUND	chr11:71323420-71323745	HepG2	liver:	n/a	n/a
47	JUND	chr11:71323296-71323424	HepG2	liver:	n/a	n/a
48	JUND	chr11:71324991-71325247	HepG2	liver:	n/a	n/a
49	JUND	chr11:71325804-71326095	HepG2	liver:	n/a	n/a
50	JUND	chr11:71322559-71322821	HepG2	liver:	n/a	n/a

(count:1161 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:71322165-71322215	MCF10A-Er-Src	breast:	n/a
2	chr11:71324188-71324238	SK-N-SH_RA	brain:	n/a
3	chr11:71322165-71322215	MCF10A-Er-Src	breast:	n/a
4	chr11:71324188-71324238	SK-N-SH_RA	brain:	n/a
5	chr11:71327885-71327935	HCM	heart:	n/a
6	chr11:71340288-71340338	GM06990	blood:	n/a
7	chr11:71324188-71324238	GM12891	blood:	n/a
8	chr11:71340352-71340402	SK-N-MC	brain:	n/a
9	chr11:71322699-71322749	HEEpiC	esophagus:	n/a
10	chr11:71324028-71324078	AG09309	skin:	n/a
11	chr11:71340288-71340338	HCT-116	colon:	n/a
12	chr11:71321226-71321276	AG04450	lung:	fetal
13	chr11:71322699-71322749	K562	blood:	n/a
14	chr11:71322873-71322923	A549	lung:	n/a
15	chr11:71322699-71322749	HRPEpiC	eye:	n/a
16	chr11:71340288-71340338	HMEC	breast:	n/a
17	chr11:71340182-71340232	HRCEpiC	kidney:	n/a
18	chr11:71327380-71327430	CMK	blood:	n/a
19	chr11:71321226-71321276	NH-A	brain:	n/a
20	chr11:71346528-71346578	SKMC	muscle:	n/a
21	chr11:71324028-71324078	HPAEpiC	pulmonary alveolar:	n/a
22	chr11:71340288-71340338	HRPEpiC	eye:	n/a
23	chr11:71324188-71324238	GM12892	blood:	n/a
24	chr11:71327897-71327947	AG09309	skin:	n/a
25	chr11:71346528-71346578	ProgFib	skin:	n/a
26	chr11:71327885-71327935	AG04449	skin:	fetal
27	chr11:71324525-71324575	GM19239	blood:	n/a
28	chr11:71327885-71327935	MCF10A-Er-Src	breast:	n/a
29	chr11:71322873-71322923	CMK	blood:	n/a
30	chr11:71327897-71327947	HAEpiC	amniotic membrane:	n/a
31	chr11:71321226-71321276	NT2-D1	testis:	n/a
32	chr11:71346528-71346578	NHDF-neo	bronchial:	n/a
33	chr11:71326486-71326536	PrEC	prostate:	n/a
34	chr11:71324028-71324078	AG10803	skin:	n/a
35	chr11:71324188-71324238	BJ	skin:	n/a
36	chr11:71327380-71327430	BJ	skin:	n/a
37	chr11:71327353-71327403	LNCaP	prostate:	n/a
38	chr11:71340352-71340402	MCF-7	breast:	n/a
39	chr11:71326486-71326536	CMK	blood:	n/a
40	chr11:71327380-71327430	U87	brain:	n/a
41	chr11:71322699-71322749	ProgFib	skin:	n/a
42	chr11:71327353-71327403	U87	brain:	n/a
43	chr11:71322699-71322749	GM06990	blood:	n/a
44	chr11:71327353-71327403	NHDF-neo	bronchial:	n/a
45	chr11:71324346-71324396	AoSMC	blood vessel:	n/a
46	chr11:71346528-71346578	NHBE	bronchial:	n/a
47	chr11:71322699-71322749	Caco-2	colon:	n/a
48	chr11:71327380-71327430	Hepatocyte	liver:	n/a
49	chr11:71322128-71322178	AG04450	lung:	fetal
50	chr11:71327885-71327935	GM06990	blood:	n/a

No data

Variant related genes	Relation type
OR7E4P	TF binding region
ENSG00000255415	TF binding region
ENSG00000187811	TF binding region
OR7E4P	CpG island
ENSG00000255415	CpG island
ENSG00000187811	CpG island

Extended variants
information (count: 1252 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1252 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6592241	chr11:71321206-71321207	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7128030	chr11:71321224-71321225	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs377234178	chr11:71321257-71321258	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs528856832	chr11:71321274-71321275	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs529503901	chr11:71321311-71321312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547108774	chr11:71321342-71321343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565405649	chr11:71321346-71321347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548344247	chr11:71321362-71321363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs61888841	chr11:71321378-71321379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs61888842	chr11:71321390-71321391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149183327	chr11:71321402-71321403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368949859	chr11:71321409-71321410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558681718	chr11:71321417-71321418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570721697	chr11:71321418-71321419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs61888843	chr11:71321419-71321420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs61888844	chr11:71321443-71321444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538097003	chr11:71321466-71321467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556813722	chr11:71321471-71321472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575059387	chr11:71321506-71321507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34064503	chr11:71321522-71321523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542190960	chr11:71321524-71321525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200271493	chr11:71321545-71321546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200922157	chr11:71321578-71321579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs61888845	chr11:71321586-71321587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554230004	chr11:71321613-71321614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7948904	chr11:71321636-71321637	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs376568183	chr11:71321696-71321697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs180718684	chr11:71321701-71321702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564609803	chr11:71321705-71321706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201898531	chr11:71321728-71321729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531529144	chr11:71321734-71321735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146811179	chr11:71321736-71321737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561997453	chr11:71321746-71321747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185500782	chr11:71321759-71321760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547343551	chr11:71321775-71321776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs202001909	chr11:71321794-71321795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565341815	chr11:71321796-71321797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200113062	chr11:71321798-71321799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7939179	chr11:71321804-71321805	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs551053704	chr11:71321806-71321807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569460740	chr11:71321818-71321819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61888846	chr11:71321834-71321835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538413160	chr11:71321851-71321852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs61888847	chr11:71321855-71321856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190296129	chr11:71321859-71321860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570414152	chr11:71321877-71321878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535776411	chr11:71321889-71321890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61888848	chr11:71321910-71321911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554166860	chr11:71321923-71321924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534642325	chr11:71321924-71321925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71319600-71321400	Weak transcription	HMEC	breast
2	chr11:71319800-71322200	Weak transcription	Gastric	stomach
3	chr11:71322600-71322800	Enhancers	Gastric	stomach
4	chr11:71322600-71322800	Enhancers	HepG2	liver
5	chr11:71323000-71324200	Weak transcription	HepG2	liver
6	chr11:71324200-71325200	Enhancers	HepG2	liver
7	chr11:71324400-71324600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:71324600-71325200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:71324600-71327000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:71325200-71325600	Flanking Active TSS	HepG2	liver
11	chr11:71325200-71325800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:71325200-71325800	Enhancers	Stomach Mucosa	stomach
13	chr11:71325200-71327000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:71325400-71325800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:71325400-71326000	Enhancers	HMEC	breast
16	chr11:71325400-71326200	Enhancers	Esophagus	oesophagus
17	chr11:71325600-71325800	Enhancers	HepG2	liver
18	chr11:71325600-71327200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:71325600-71327200	Enhancers	NHEK	skin
20	chr11:71325800-71327000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:71326000-71326200	Enhancers	Lung	lung
22	chr11:71326000-71326400	Enhancers	Placenta	Placenta
23	chr11:71326000-71326400	Weak transcription	HMEC	breast
24	chr11:71326400-71327000	Enhancers	HMEC	breast
25	chr11:71326600-71327000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
26	chr11:71335200-71350400	Weak transcription	Right Atrium	heart
27	chr11:71336800-71337000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:71338600-71339000	Enhancers	Duodenum Mucosa	Duodenum
29	chr11:71344200-71350600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr11:71346800-71347000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin

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