Variant report

Variant	esv3340605
Chromosome Location	chr11:72356804-72361102
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	BHLHE40	chr11:72357616-72357742	K562	blood:	n/a	n/a
2	CTCF	chr11:72356759-72356829	Hela-S3	cervix:	n/a	chr11:72356773-72356794 chr11:72356780-72356793 chr11:72356778-72356796
3	CTCF	chr11:72356680-72356830	GM06990	blood:	n/a	chr11:72356773-72356794 chr11:72356780-72356793 chr11:72356778-72356796
4	CTCF	chr11:72357520-72357670	GM06990	blood:	n/a	n/a
5	JUND	chr11:72357152-72357389	H1-hESC	embryonic stem cell:	n/a	chr11:72357265-72357273 chr11:72357264-72357274 chr11:72357264-72357274 chr11:72357264-72357274
6	JUND	chr11:72357114-72357348	H1-hESC	embryonic stem cell:	n/a	chr11:72357265-72357273 chr11:72357264-72357274 chr11:72357264-72357274 chr11:72357264-72357274
7	MAX	chr11:72357546-72357811	K562	blood:	n/a	n/a
8	MAX	chr11:72358958-72359153	H1-hESC	embryonic stem cell:	n/a	chr11:72359139-72359150 chr11:72359142-72359149
9	MAX	chr11:72359899-72359953	NB4	blood:	n/a	chr11:72359938-72359948
10	MAZ	chr11:72359345-72359359	Hela-S3	cervix:	n/a	n/a
11	MYC	chr11:72359882-72359916	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:72360359-72360401	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr11:72360664-72361036	H1-neurons	neurons:	n/a	n/a
14	USF1	chr11:72357588-72357843	K562	blood:	n/a	n/a
15	USF2	chr11:72357669-72357673	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:72352591..72354863-chr11:72359985..72362925,3	MCF-7	breast:
2	chr11:72357248..72359337-chr11:72359390..72360915,2	MCF-7	breast:
3	chr11:72356436..72357104-chr2:117515929..117516830,2	MCF-7	breast:
4	chr11:72357248..72359337-chr11:72359390..72360915,2	MCF-7	breast:
5	chr11:72351375..72354912-chr11:72357807..72359831,3	K562	blood:
6	chr11:72354924..72356941-chr11:72362580..72364598,3	K562	blood:
7	chr11:72356337..72359117-chr11:72532561..72534508,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATG16L2-4	chr11:72360294-72360382	ENSG00000255808.1

Variant related genes	Relation type
PDE2A	TF binding region
ENSG00000255808	chromatin interactions
ENSG00000186642	chromatin interactions
ENSG00000168010	chromatin interactions

Extended variants
information (count: 145 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34659576	chr11:72356809-72356810	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs370551531	chr11:72356826-72356827	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs188221693	chr11:72356845-72356846	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs117081755	chr11:72356846-72356847	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs79456357	chr11:72356878-72356879	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs552204435	chr11:72356884-72356885	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs78620466	chr11:72356942-72356943	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs191864674	chr11:72356947-72356948	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs184251843	chr11:72356967-72356968	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs189422100	chr11:72356969-72356970	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs565279562	chr11:72357009-72357010	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs149607351	chr11:72357059-72357060	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs544605375	chr11:72357080-72357081	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs562609417	chr11:72357095-72357096	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs540457728	chr11:72357115-72357116	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs144294269	chr11:72357140-72357141	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs547963856	chr11:72357185-72357186	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs71477740	chr11:72357192-72357193	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs559953644	chr11:72357221-72357222	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs115441144	chr11:72357238-72357239	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs181998835	chr11:72357278-72357279	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs185166572	chr11:72357288-72357289	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs570535591	chr11:72357343-72357344	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs370193636	chr11:72357350-72357351	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs537408231	chr11:72357356-72357357	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs549769156	chr11:72357361-72357362	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs569548913	chr11:72357412-72357413	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs536981088	chr11:72357428-72357429	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs534826929	chr11:72357438-72357439	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs553912606	chr11:72357481-72357482	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs573525924	chr11:72357484-72357485	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs534409256	chr11:72357535-72357536	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs558743688	chr11:72357593-72357594	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs148333296	chr11:72357698-72357699	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs544254939	chr11:72357784-72357785	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs568476755	chr11:72357806-72357807	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs574378384	chr11:72357822-72357823	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs541765360	chr11:72357858-72357859	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs560017575	chr11:72357871-72357872	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs527441800	chr11:72357942-72357943	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs376185557	chr11:72357986-72357987	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs60431679	chr11:72358001-72358002	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs554330645	chr11:72358076-72358077	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs563997397	chr11:72358087-72358088	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs372583881	chr11:72358124-72358125	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs531463354	chr11:72358169-72358170	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs549496217	chr11:72358241-72358242	Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs536516028	chr11:72358304-72358305	Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs568103221	chr11:72358305-72358306	Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs574518334	chr11:72358306-72358307	Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	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
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
small cell lung cancer	20016488	CNVD
Lung cancer	19153074	CNVD
Acute myeloid leukemia	21251322	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72354200-72359600	Weak transcription	Fetal Heart	heart
2	chr11:72354600-72361200	Weak transcription	Gastric	stomach
3	chr11:72354600-72365000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr11:72354800-72359600	Weak transcription	Brain Anterior Caudate	brain
5	chr11:72355000-72360600	Weak transcription	Fetal Brain Male	brain
6	chr11:72355000-72362000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:72355000-72363800	Weak transcription	Fetal Brain Female	brain
8	chr11:72357000-72357800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:72358200-72358400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:72359200-72359400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:72359400-72359600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:72359400-72361000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:72359600-72360400	Enhancers	Fetal Heart	heart
14	chr11:72359600-72360800	Enhancers	Brain Anterior Caudate	brain
15	chr11:72359800-72360000	Bivalent Enhancer	Fetal Stomach	stomach
16	chr11:72360400-72360600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:72360400-72360600	Enhancers	Fetal Muscle Trunk	muscle
18	chr11:72360600-72360800	Enhancers	Fetal Brain Male	brain
19	chr11:72360800-72361200	Weak transcription	Fetal Brain Male	brain
20	chr11:72360800-72363400	Weak transcription	Brain Anterior Caudate	brain

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