Variant report

Variant	esv3441543
Chromosome Location	chr11:73650332-73658331
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:65)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:65 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:73653290-73653316	K562	blood:	n/a	n/a
2	CBX3	chr11:73657779-73658184	K562	blood:	n/a	n/a
3	CCNT2	chr11:73653081-73653331	K562	blood:	n/a	n/a
4	CEBPB	chr11:73653256-73653292	K562	blood:	n/a	n/a
5	CEBPD	chr11:73653082-73653534	K562	blood:	n/a	n/a
6	CEBPD	chr11:73653091-73653532	K562	blood:	n/a	n/a
7	CTCF	chr11:73655820-73655970	MCF-7	breast:	n/a	n/a
8	E2F4	chr11:73655684-73655760	MCF10A-Er-Src	breast:	n/a	n/a
9	EP300	chr11:73653119-73653370	K562	blood:	n/a	n/a
10	GABPA	chr11:73653073-73653444	K562	blood:	n/a	n/a
11	GATA1	chr11:73652538-73653628	K562	blood:	n/a	n/a
12	GATA2	chr11:73653045-73653408	K562	blood:	n/a	n/a
13	GATA2	chr11:73653015-73653464	K562	blood:	n/a	n/a
14	GATA2	chr11:73658105-73658326	SH-SY5Y	brain:	n/a	n/a
15	GATA2	chr11:73653062-73653431	HUVEC	blood vessel:	n/a	n/a
16	GATA3	chr11:73657884-73658388	MCF-7	breast:	n/a	n/a
17	GATA3	chr11:73658033-73658335	MCF-7	breast:	n/a	n/a
18	JUN	chr11:73652873-73652937	K562	blood:	n/a	n/a
19	KAP1	chr11:73657985-73658582	U2OS	brain:	n/a	n/a
20	KAP1	chr11:73650165-73650757	U2OS	brain:	n/a	n/a
21	KAP1	chr11:73657724-73658596	HEK293	kidney:	n/a	n/a
22	KAP1	chr11:73649837-73651046	HEK293	kidney:	n/a	n/a
23	KAP1	chr11:73652414-73653244	K562	blood:	n/a	n/a
24	MAFK	chr11:73653541-73653580	HepG2	liver:	n/a	n/a
25	MYC	chr11:73652251-73652316	K562	blood:	n/a	n/a
26	MYC	chr11:73653229-73653237	K562	blood:	n/a	n/a
27	MYC	chr11:73651359-73651405	H1-hESC	embryonic stem cell:	n/a	n/a
28	NR2F2	chr11:73653026-73653428	K562	blood:	n/a	n/a
29	PML	chr11:73653007-73653492	K562	blood:	n/a	n/a
30	POLR2A	chr11:73652499-73652604	GM12878	blood:	n/a	n/a
31	POLR2A	chr11:73656409-73656652	HepG2	liver:	n/a	n/a
32	POLR2A	chr11:73653076-73653406	K562	blood:	n/a	n/a
33	POLR2A	chr11:73658004-73658058	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr11:73651530-73651535	HepG2	liver:	n/a	n/a
35	POLR2A	chr11:73652957-73653432	HUVEC	blood vessel:	n/a	n/a
36	POLR2A	chr11:73651118-73651184	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr11:73653077-73653430	K562	blood:	n/a	n/a
38	POLR2A	chr11:73650666-73650830	HepG2	liver:	n/a	n/a
39	POLR2A	chr11:73657784-73658209	HepG2	liver:	n/a	n/a
40	POLR2A	chr11:73653114-73653383	K562	blood:	n/a	n/a
41	POLR2A	chr11:73652206-73652314	GM12878	blood:	n/a	n/a
42	POLR2A	chr11:73653107-73653353	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr11:73658064-73658092	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr11:73651481-73651727	HepG2	liver:	n/a	n/a
45	POLR2A	chr11:73656092-73656220	HepG2	liver:	n/a	n/a
46	POLR2A	chr11:73657749-73657963	HepG2	liver:	n/a	n/a
47	RCOR1	chr11:73653129-73653467	K562	blood:	n/a	n/a
48	RCOR1	chr11:73653125-73653492	K562	blood:	n/a	n/a
49	REST	chr11:73653115-73653319	K562	blood:	n/a	n/a
50	SETDB1	chr11:73650104-73651033	U2OS	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:73654307..73657174-chr11:73658195..73659987,2	K562	blood:
2	chr11:73649521..73651075-chr11:73655497..73658125,2	K562	blood:
3	chr11:73654307..73657174-chr11:73658195..73659987,2	K562	blood:
4	chr11:73634489..73636517-chr11:73653187..73655422,2	MCF-7	breast:
5	chr11:73649521..73651075-chr11:73655497..73658125,2	K562	blood:

No data

Variant related genes	Relation type
DNAJB13	TF binding region

Extended variants
information (count: 280 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:280 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146459575	chr11:73650374-73650375	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs56340309	chr11:73650391-73650392	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs140852174	chr11:73650405-73650406	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191404883	chr11:73650409-73650410	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112862137	chr11:73650491-73650492	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11603710	chr11:73650498-73650499	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs376420682	chr11:73650577-73650578	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536099486	chr11:73650630-73650631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563793629	chr11:73650773-73650774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554153395	chr11:73650774-73650775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574059641	chr11:73650836-73650837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74421055	chr11:73650865-73650866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181100577	chr11:73650907-73650908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10160362	chr11:73650922-73650923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs545667963	chr11:73650971-73650972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187002737	chr11:73650990-73650991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191447687	chr11:73650991-73650992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113106875	chr11:73650994-73650995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562089292	chr11:73651048-73651049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79901488	chr11:73651094-73651095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371120786	chr11:73651114-73651115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547947854	chr11:73651139-73651140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533132769	chr11:73651161-73651162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs61901173	chr11:73651194-73651195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543758506	chr11:73651207-73651208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183359876	chr11:73651224-73651225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144608819	chr11:73651335-73651336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550112180	chr11:73651351-73651352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1670556	chr11:73651352-73651353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199554248	chr11:73651353-73651354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34027139	chr11:73651354-73651355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139266183	chr11:73651355-73651356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76442288	chr11:73651364-73651365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79775693	chr11:73651365-73651366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs58959653	chr11:73651366-73651367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs608928	chr11:73651377-73651378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570191333	chr11:73651404-73651405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535760715	chr11:73651436-73651437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550317921	chr11:73651468-73651469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562622453	chr11:73651501-73651502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567745424	chr11:73651556-73651557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187684795	chr11:73651621-73651622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114090219	chr11:73651656-73651657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12287418	chr11:73651662-73651663	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs113808793	chr11:73651687-73651688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545834709	chr11:73651691-73651692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556090801	chr11:73651739-73651740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576161522	chr11:73651740-73651741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140653230	chr11:73651748-73651749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561950215	chr11:73651764-73651765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Breast cancer	17142309	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73633200-73652400	Weak transcription	Small Intestine	intestine
2	chr11:73639000-73653000	Weak transcription	K562	blood
3	chr11:73639400-73653200	Weak transcription	Gastric	stomach
4	chr11:73639400-73668000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:73640400-73655000	Weak transcription	Brain Germinal Matrix	brain
6	chr11:73640400-73659200	Weak transcription	HepG2	liver
7	chr11:73640800-73652200	Weak transcription	Fetal Brain Female	brain
8	chr11:73640800-73667000	Weak transcription	Pancreas	Pancrea
9	chr11:73641400-73672200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:73642600-73652200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:73642600-73655600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:73642600-73656200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:73642800-73653000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr11:73644000-73653000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr11:73644200-73652200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:73645400-73655200	Weak transcription	Brain Anterior Caudate	brain
17	chr11:73645600-73655000	Weak transcription	Adipose Nuclei	Adipose
18	chr11:73645600-73655600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr11:73645800-73655400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr11:73646200-73650400	Weak transcription	Ovary	ovary
21	chr11:73646200-73653600	Weak transcription	Left Ventricle	heart
22	chr11:73646200-73654400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr11:73646200-73655000	Weak transcription	Brain Hippocampus Middle	brain
24	chr11:73646400-73653600	Weak transcription	Liver	Liver
25	chr11:73648000-73650600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:73648000-73650600	ZNF genes & repeats	Fetal Intestine Small	intestine
27	chr11:73649000-73650400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:73650200-73666800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:73650200-73667000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:73650400-73650600	Enhancers	Ovary	ovary
31	chr11:73650600-73652200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:73652000-73652600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:73652200-73652400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
34	chr11:73652200-73652600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:73652200-73652600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:73652200-73653600	Enhancers	Fetal Brain Female	brain
37	chr11:73652400-73652600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:73652600-73655000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:73652600-73657200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:73652600-73657800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:73653000-73653400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
42	chr11:73653000-73653400	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr11:73653000-73653800	Enhancers	K562	blood
44	chr11:73653200-73653400	Enhancers	Gastric	stomach
45	chr11:73653600-73654000	Weak transcription	Fetal Brain Female	brain
46	chr11:73654600-73655200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:73654600-73655600	Enhancers	Placenta	Placenta
48	chr11:73655000-73655400	Enhancers	Adipose Nuclei	Adipose
49	chr11:73655000-73655600	Enhancers	Brain Germinal Matrix	brain
50	chr11:73655000-73657000	Enhancers	Brain Hippocampus Middle	brain

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