Variant report

Variant	esv3328619
Chromosome Location	chr11:71272162-71274726
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:226)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:226 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:71274374-71274763	K562	blood:	n/a	n/a
2	BHLHE40	chr11:71274540-71274790	GM12878	blood:	n/a	n/a
3	BRCA1	chr11:71274467-71274725	HepG2	liver:	n/a	n/a
4	CHD2	chr11:71274596-71274796	HepG2	liver:	n/a	n/a
5	CTCF	chr11:71274580-71274730	AG04450	lung:	n/a	n/a
6	CTCF	chr11:71274660-71274810	K562	blood:	n/a	n/a
7	CTCF	chr11:71274632-71274832	GM20000	blood:	n/a	n/a
8	CTCF	chr11:71274660-71274810	BE2_C	brain:	n/a	n/a
9	CTCF	chr11:71274620-71274770	AG04449	skin:	n/a	n/a
10	CTCF	chr11:71274553-71274858	A549	lung:	n/a	n/a
11	CTCF	chr11:71274600-71274750	HPAF	blood vessel:	n/a	n/a
12	CTCF	chr11:71274640-71274790	Caco-2	colon:	n/a	n/a
13	CTCF	chr11:71274660-71274810	HPAF	blood vessel:	n/a	n/a
14	CTCF	chr11:71274651-71274809	Kidney_OC	kidney:	n/a	n/a
15	CTCF	chr11:71274660-71274810	GM12875	blood:	n/a	n/a
16	CTCF	chr11:71274620-71274770	WI-38	lung:	n/a	n/a
17	CTCF	chr11:71274660-71274810	GM12873	blood:	n/a	n/a
18	CTCF	chr11:71274660-71274810	MCF-7	breast:	n/a	n/a
19	CTCF	chr11:71274660-71274810	HFF-Myc	foreskin:	n/a	n/a
20	CTCF	chr11:71274620-71274770	SK-N-SH_RA	brain:	n/a	n/a
21	CTCF	chr11:71274540-71274690	A549	lung:	n/a	n/a
22	CTCF	chr11:71274559-71274861	GM12878	blood:	n/a	n/a
23	CTCF	chr11:71273380-71273530	HCT-116	colon:	n/a	n/a
24	CTCF	chr11:71274598-71274843	HepG2	liver:	n/a	n/a
25	CTCF	chr11:71274680-71274830	NHLF	lung:	n/a	n/a
26	CTCF	chr11:71274620-71274770	BJ	skin:	n/a	n/a
27	CTCF	chr11:71274491-71274922	MCF-7	breast:	n/a	n/a
28	CTCF	chr11:71274652-71274771	Spleen_OC	spleen:	n/a	n/a
29	CTCF	chr11:71274680-71274830	HBMEC	blood vessel:	n/a	n/a
30	CTCF	chr11:71274660-71274810	HUVEC	blood vessel:	n/a	n/a
31	CTCF	chr11:71274525-71274943	K562	blood:	n/a	n/a
32	CTCF	chr11:71274680-71274830	AG09309	skin:	n/a	n/a
33	CTCF	chr11:71274488-71274874	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr11:71274640-71274790	AG10803	skin:	n/a	n/a
35	CTCF	chr11:71274641-71274807	Pancreas_OC	pancreas:	n/a	n/a
36	CTCF	chr11:71274606-71274842	MCF-7	breast:	n/a	n/a
37	CTCF	chr11:71274680-71274830	AG10803	skin:	n/a	n/a
38	CTCF	chr11:71274300-71274550	HFF-Myc	foreskin:	n/a	n/a
39	CTCF	chr11:71274680-71274830	GM12867	blood:	n/a	n/a
40	CTCF	chr11:71274660-71274810	HMEC	breast:	n/a	n/a
41	CTCF	chr11:71274629-71274836	MCF-7	breast:	n/a	n/a
42	CTCF	chr11:71274583-71274790	K562	blood:	n/a	n/a
43	CTCF	chr11:71274440-71274590	NHDF-neo	bronchial:	n/a	n/a
44	CTCF	chr11:71274600-71274750	HRE	kidney:	n/a	n/a
45	CTCF	chr11:71274660-71274810	NB4	blood:	n/a	n/a
46	CTCF	chr11:71274660-71274810	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr11:71274595-71274841	Fibrobl	skin:	n/a	n/a
48	CTCF	chr11:71273340-71273490	MCF-7	breast:	n/a	n/a
49	CTCF	chr11:71274625-71274857	GM12891	blood:	n/a	n/a
50	CTCF	chr11:71274640-71274790	NHEK	skin:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:71272055..71274887-chr11:71280546..71282110,2	K562	blood:
2	chr11:71198148..71200436-chr11:71273726..71275977,2	MCF-7	breast:
3	chr11:71156732..71161621-chr11:71272936..71276184,4	MCF-7	breast:
4	chr11:71176264..71179140-chr11:71273245..71275842,2	MCF-7	breast:
5	chr11:71159116..71165503-chr11:71274687..71279227,9	MCF-7	breast:
6	chr11:71189071..71191550-chr11:71272066..71273804,2	MCF-7	breast:

No data

Variant related genes	Relation type
KRTAP5-10	TF binding region
ENSG00000248903	TF binding region
ENSG00000172890	chromatin interactions
ENSG00000172893	chromatin interactions
ENSG00000254682	chromatin interactions

Extended variants
information (count: 145 )
Associated
traits (count: 101 )

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	rs79474356	chr11:71272186-71272187	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs550428199	chr11:71272218-71272219	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs568710505	chr11:71272230-71272231	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs142372564	chr11:71272248-71272249	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs529577799	chr11:71272252-71272253	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs76025578	chr11:71272256-71272257	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs375223235	chr11:71272280-71272281	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs76245488	chr11:71272281-71272282	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs75871143	chr11:71272298-71272299	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs200207510	chr11:71272311-71272312	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs375926644	chr11:71272312-71272313	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs200657692	chr11:71272314-71272315	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs144818285	chr11:71272321-71272322	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs528371966	chr11:71272322-71272323	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs78786758	chr11:71272324-71272325	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs150157760	chr11:71272340-71272341	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs11234188	chr11:71272348-71272349	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs75570019	chr11:71272349-71272350	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs74623154	chr11:71272352-71272353	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs79794991	chr11:71272361-71272362	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs73530486	chr11:71272382-71272383	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs138542675	chr11:71272385-71272386	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs74831541	chr11:71272420-71272421	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs555294233	chr11:71272426-71272427	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs143962849	chr11:71272437-71272438	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs11828847	chr11:71272438-71272439	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs79616326	chr11:71272448-71272449	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs368051688	chr11:71272454-71272455	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs78165305	chr11:71272457-71272458	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs79225855	chr11:71272487-71272488	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs75309477	chr11:71272494-71272495	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs370073586	chr11:71272500-71272501	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs146994482	chr11:71272501-71272502	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs201406263	chr11:71272504-71272505	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs117523292	chr11:71272530-71272531	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs77485559	chr11:71272543-71272544	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs147303206	chr11:71272547-71272548	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs545060197	chr11:71272558-71272559	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs113633868	chr11:71272566-71272567	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs140799456	chr11:71272601-71272602	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs543963674	chr11:71272611-71272612	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs562155086	chr11:71272638-71272639	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs529545413	chr11:71272659-71272660	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs141483584	chr11:71272663-71272664	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs560035643	chr11:71272669-71272670	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs150823459	chr11:71272671-71272672	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs139273927	chr11:71272702-71272703	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs368266340	chr11:71272717-71272718	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs180866513	chr11:71272780-71272781	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs537163548	chr11:71272786-71272787	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71274200-71276400	Bivalent Enhancer	HepG2	liver
2	chr11:71274400-71274800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
3	chr11:71274400-71274800	Bivalent Enhancer	Osteobl	bone
4	chr11:71274400-71275000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
5	chr11:71274400-71275000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:71274600-71274800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
7	chr11:71274600-71274800	Enhancers	Brain Substantia Nigra	brain
8	chr11:71274600-71274800	Bivalent/Poised TSS	Fetal Brain Male	brain
9	chr11:71274600-71275200	Enhancers	Spleen	Spleen

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