Variant report

Variant	esv3521454
Chromosome Location	chr11:74023704-74028502
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr11:74027858-74028188	K562	blood:	n/a	n/a
2	CEBPB	chr11:74023398-74023778	HepG2	liver:	n/a	chr11:74023581-74023592
3	CEBPB	chr11:74023396-74023801	A549	lung:	n/a	chr11:74023581-74023592
4	CEBPB	chr11:74023406-74023802	IMR90	lung:	n/a	chr11:74023581-74023592
5	CEBPB	chr11:74023429-74023756	HepG2	liver:	n/a	chr11:74023581-74023592
6	CEBPB	chr11:74023456-74023744	H1-hESC	embryonic stem cell:	n/a	chr11:74023581-74023592
7	CEBPB	chr11:74023438-74023800	MCF-7	breast:	n/a	chr11:74023581-74023592
8	CEBPB	chr11:74023423-74023752	K562	blood:	n/a	chr11:74023581-74023592
9	CEBPB	chr11:74023395-74023856	A549	lung:	n/a	chr11:74023816-74023829 chr11:74023581-74023592
10	CEBPB	chr11:74023394-74023814	Hela-S3	cervix:	n/a	chr11:74023581-74023592
11	CEBPB	chr11:74023386-74023824	A549	lung:	n/a	chr11:74023581-74023592
12	E2F4	chr11:74028188-74028348	MCF10A-Er-Src	breast:	n/a	n/a
13	EP300	chr11:74023527-74023727	Hela-S3	cervix:	n/a	n/a
14	FOXA1	chr11:74023384-74023784	HepG2	liver:	n/a	chr11:74023534-74023549
15	FOXA2	chr11:74023306-74023762	A549	lung:	n/a	n/a
16	FOXA2	chr11:74023426-74023763	A549	lung:	n/a	n/a
17	GATA3	chr11:74027870-74028540	SK-N-SH	brain:	n/a	n/a
18	KAP1	chr11:74027796-74028173	K562	blood:	n/a	n/a
19	POLR2A	chr11:74026494-74026519	GM12878	blood:	n/a	n/a
20	POLR2A	chr11:74026301-74026378	GM12878	blood:	n/a	n/a
21	SETDB1	chr11:74027797-74028492	U2OS	brain:	n/a	n/a
22	STAT3	chr11:74023466-74023751	MCF10A-Er-Src	breast:	n/a	n/a
23	ZNF143	chr11:74027970-74028060	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:74026371-74026421	LNCaP	prostate:	n/a
2	chr11:74026371-74026421	PANC-1	pancreas:	n/a
3	chr11:74026371-74026421	SKMC	muscle:	n/a
4	chr11:74026371-74026421	AG10803	skin:	n/a
5	chr11:74026371-74026421	NHBE	bronchial:	n/a
6	chr11:74026371-74026421	Hela-S3	cervix:	n/a
7	chr11:74026371-74026421	NHDF-neo	bronchial:	n/a
8	chr11:74026371-74026421	U87	brain:	n/a
9	chr11:74026371-74026421	CMK	blood:	n/a
10	chr11:74026371-74026421	ProgFib	skin:	n/a
11	chr11:74026371-74026421	HIPEpiC	eye:	n/a
12	chr11:74026371-74026421	SK-N-MC	brain:	n/a
13	chr11:74026371-74026421	AG09319	gingival:	n/a
14	chr11:74026371-74026421	Hepatocyte	liver:	n/a
15	chr11:74026371-74026421	AG04450	lung:	fetal
16	chr11:74026371-74026421	PrEC	prostate:	n/a
17	chr11:74026371-74026421	GM12892	blood:	n/a
18	chr11:74026371-74026421	HepG2	liver:	n/a
19	chr11:74026371-74026421	T-47D	breast:	n/a
20	chr11:74026371-74026421	K562	blood:	n/a
21	chr11:74026371-74026421	HEK293	kidney:	embryo
22	chr11:74026371-74026421	NT2-D1	testis:	n/a
23	chr11:74026371-74026421	HAEpiC	amniotic membrane:	n/a
24	chr11:74026371-74026421	GM12891	blood:	n/a
25	chr11:74026371-74026421	ECC-1	luminal epithelium:	n/a
26	chr11:74026371-74026421	HCT-116	colon:	n/a
27	chr11:74026371-74026421	HUVEC	blood vessel:	n/a
28	chr11:74026371-74026421	HRCEpiC	kidney:	n/a
29	chr11:74026371-74026421	HCF	heart:	n/a
30	chr11:74026371-74026421	AG09309	skin:	n/a
31	chr11:74026371-74026421	NH-A	brain:	n/a
32	chr11:74026371-74026421	MCF10A-Er-Src	breast:	n/a
33	chr11:74026371-74026421	HNPCEpiC	eye:	n/a
34	chr11:74026371-74026421	AoSMC	blood vessel:	n/a
35	chr11:74026371-74026421	HL-60	blood:	n/a
36	chr11:74026371-74026421	SK-N-SH_RA	brain:	n/a
37	chr11:74026371-74026421	PFSK-1	brain:	n/a
38	chr11:74026371-74026421	ovcar-3	ovarian:	n/a
39	chr11:74026371-74026421	HRE	kidney:	n/a
40	chr11:74026371-74026421	HCPEpiC	choroid plexus:	n/a
41	chr11:74026371-74026421	SK-N-SH	brain:	n/a
42	chr11:74026371-74026421	BJ	skin:	n/a
43	chr11:74026371-74026421	NB4	blood:	n/a
44	chr11:74026371-74026421	HCM	heart:	n/a
45	chr11:74026371-74026421	Jurkat	blood:	n/a
46	chr11:74026371-74026421	SAEC	small airway:	n/a
47	chr11:74026371-74026421	HMEC	breast:	n/a
48	chr11:74026371-74026421	Caco-2	colon:	n/a
49	chr11:74026371-74026421	MCF-7	breast:	n/a
50	chr11:74026371-74026421	GM06990	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:74020783..74024598-chr11:74028105..74031169,3	MCF-7	breast:

No data

Variant related genes	Relation type
P4HA3	TF binding region
P4HA3	CpG island
ENSG00000246211	chromatin interactions
ENSG00000149380	chromatin interactions

Extended variants
information (count: 161 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7947911	chr11:74023751-74023752	Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534333812	chr11:74023778-74023779	Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs558022928	chr11:74023857-74023858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577907133	chr11:74023860-74023861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536829890	chr11:74023866-74023867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556774104	chr11:74023871-74023872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556474930	chr11:74023895-74023896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577605962	chr11:74023907-74023908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184484826	chr11:74023967-74023968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376336283	chr11:74023977-74023978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78724004	chr11:74023994-74023995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559601574	chr11:74024003-74024004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553885717	chr11:74024012-74024013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573181009	chr11:74024014-74024015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545116727	chr11:74024015-74024016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189142438	chr11:74024110-74024111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531141082	chr11:74024116-74024117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551310077	chr11:74024130-74024131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143972874	chr11:74024135-74024136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74816809	chr11:74024181-74024182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572078458	chr11:74024203-74024204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549062061	chr11:74024232-74024233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs752577	chr11:74024240-74024241	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs670974	chr11:74024257-74024258	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs371787851	chr11:74024284-74024285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181184824	chr11:74024286-74024287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186366897	chr11:74024302-74024303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539369898	chr11:74024341-74024342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116638505	chr11:74024350-74024351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573460032	chr11:74024399-74024400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34641911	chr11:74024406-74024407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536081605	chr11:74024441-74024442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553429234	chr11:74024442-74024443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs4641511	chr11:74024443-74024444	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs545369097	chr11:74024464-74024465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189300151	chr11:74024504-74024505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575728546	chr11:74024520-74024521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148832670	chr11:74024524-74024525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373150207	chr11:74024527-74024528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs201013537	chr11:74024535-74024536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201985261	chr11:74024536-74024537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200386764	chr11:74024538-74024539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530309818	chr11:74024574-74024575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs520523	chr11:74024586-74024587	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs559377480	chr11:74024590-74024591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544505953	chr11:74024600-74024601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371795091	chr11:74024617-74024618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs180827636	chr11:74024631-74024632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150653778	chr11:74024683-74024684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139768812	chr11:74024697-74024698	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	21364760	CNVD
Hodgkin''s lymphoma	17606441	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
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74023000-74023800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr11:74023000-74028600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:74023200-74023800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
4	chr11:74023200-74023800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:74023200-74023800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr11:74023200-74023800	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr11:74023200-74027600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:74023200-74036800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:74023400-74028600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr11:74023600-74027800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:74024400-74024600	Enhancers	Primary T cells from cord blood	blood
12	chr11:74027400-74027600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr11:74027600-74027800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
14	chr11:74027600-74028200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:74027800-74028200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:74027800-74028200	ZNF genes & repeats	NHDF-Ad	bronchial
17	chr11:74027800-74029400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr11:74028000-74031000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:74028200-74028400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:74028200-74028400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:74028200-74028600	Weak transcription	NHDF-Ad	bronchial
22	chr11:74028200-74029600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:74028400-74030400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:74028400-74030800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:74028400-74031000	Enhancers	Osteobl	bone

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