Variant report

Variant	esv3693392
Chromosome Location	chr11:120549745-120628012
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:120610677..120612695-chr11:120615740..120618273,2	MCF-7	breast:
2	chr11:120609818..120611371-chr11:120614009..120616949,2	MCF-7	breast:
3	chr11:120584157..120585682-chr11:120588505..120590152,2	MCF-7	breast:
4	chr11:120586309..120588238-chr11:120588252..120589968,2	MCF-7	breast:
5	chr11:120557344..120559248-chr11:120561871..120563777,2	MCF-7	breast:
6	chr11:120572331..120575238-chr11:120578976..120580756,3	K562	blood:
7	chr11:120564446..120566306-chr11:120573634..120575547,2	MCF-7	breast:
8	chr11:120557930..120559568-chr11:120564023..120565986,2	MCF-7	breast:
9	chr11:120584973..120587715-chr11:120590633..120593353,2	K562	blood:
10	chr11:120588756..120591317-chr11:120596716..120599050,2	K562	blood:
11	chr11:120557930..120559568-chr11:120564023..120565986,2	MCF-7	breast:
12	chr11:120381511..120382316-chr11:120555430..120556211,2	MCF-7	breast:
13	chr11:120572331..120575238-chr11:120578976..120580756,3	K562	blood:
14	chr11:120584157..120585682-chr11:120588505..120590152,2	MCF-7	breast:
15	chr11:120610857..120612660-chr11:120620936..120623102,2	K562	blood:
16	chr11:120584973..120587715-chr11:120590633..120593353,2	K562	blood:
17	chr11:120588756..120591317-chr11:120596716..120599050,2	K562	blood:
18	chr11:120564446..120566306-chr11:120573634..120575547,2	MCF-7	breast:
19	chr11:120610677..120612695-chr11:120615740..120618273,2	MCF-7	breast:
20	chr11:120627392..120628392-chr11:120800177..120801006,5	MCF-7	breast:
21	chr11:120547489..120549157-chr11:120552655..120555191,2	K562	blood:
22	chr11:120627260..120628252-chr11:120672656..120673515,2	MCF-7	breast:
23	chr11:120196443..120199058-chr11:120588153..120590155,2	MCF-7	breast:
24	chr11:120586188..120587926-chr11:120590169..120592133,3	K562	blood:
25	chr11:120610857..120612660-chr11:120620936..120623102,2	K562	blood:
26	chr11:120555371..120556243-chr11:120672702..120673511,2	MCF-7	breast:
27	chr11:120627379..120628331-chr11:120823222..120824224,4	MCF-7	breast:
28	chr11:120586188..120587926-chr11:120590169..120592133,3	K562	blood:
29	chr11:120557344..120559248-chr11:120561871..120563777,2	MCF-7	breast:
30	chr11:120609818..120611371-chr11:120614009..120616949,2	MCF-7	breast:
31	chr11:120381448..120382769-chr11:120555121..120556291,7	MCF-7	breast:
32	chr11:120586309..120588238-chr11:120588252..120589968,2	MCF-7	breast:
33	chr11:120576655..120578167-chr11:120777548..120780496,2	MCF-7	breast:
34	chr11:120381517..120382507-chr11:120555254..120556294,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000149403	chromatin interactions
ENSG00000204306	chromatin interactions
ENSG00000181264	chromatin interactions

Extended variants
information (count: 2561 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:2561 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10892608	chr11:120549745-120549746	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs193039477	chr11:120549773-120549774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552338359	chr11:120549807-120549808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565017553	chr11:120549896-120549897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532266684	chr11:120549963-120549964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115911945	chr11:120549973-120549974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569481836	chr11:120549975-120549976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530270115	chr11:120550002-120550003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376937110	chr11:120550061-120550062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73584519	chr11:120550091-120550092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567039107	chr11:120550106-120550107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35101469	chr11:120550222-120550223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs11217968	chr11:120550229-120550230	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs570482186	chr11:120550271-120550272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537961348	chr11:120550274-120550275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556193526	chr11:120550282-120550283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575145140	chr11:120550285-120550286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12574186	chr11:120550286-120550287	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs554881411	chr11:120550296-120550297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573028857	chr11:120550344-120550345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540489853	chr11:120550362-120550363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114681345	chr11:120550375-120550376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76823358	chr11:120550380-120550381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs58708223	chr11:120550397-120550398	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs7932158	chr11:120550430-120550431	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs184522420	chr11:120550434-120550435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548473831	chr11:120550498-120550499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560708730	chr11:120550540-120550541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs527995171	chr11:120550583-120550584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150656827	chr11:120550589-120550590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535830120	chr11:120550595-120550596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79914670	chr11:120550626-120550627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537848396	chr11:120550647-120550648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140003303	chr11:120550662-120550663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77409718	chr11:120550683-120550684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs80102851	chr11:120550718-120550719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554486285	chr11:120550825-120550826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs60058140	chr11:120550853-120550854	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs372308397	chr11:120550865-120550866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188995498	chr11:120550915-120550916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558840946	chr11:120550934-120550935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146388328	chr11:120550973-120550974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544212455	chr11:120550978-120550979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35344759	chr11:120550994-120550995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574607509	chr11:120551003-120551004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541875932	chr11:120551038-120551039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560531896	chr11:120551046-120551047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs386758147	chr11:120551055-120551056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112148482	chr11:120551057-120551058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs61902681	chr11:120551060-120551061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	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
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Renal cell carcinoma	21668985	CNVD
Developmental delay	21147756	CNVD
Emanuel syndrome	21549014	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Ovarian neoplasms	16753589	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Retinoblastoma	22278416	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	CNVD
Squamous cell cancer	20885788	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Neurocytoma	17123091	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Central neurocytomas	17123091	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Hepatocellular carcinoma	16750200	CNVD
Multiple myeloma	17550852	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Acute myeloid leukemia	19651601	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	20409316	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Autism	22543975	CNVD
Breast cancer	21509527	CNVD
Barrett''s syndrome	19417022	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:599 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120533200-120551800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:120538600-120551800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:120538600-120552000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:120544400-120552200	Weak transcription	Brain Substantia Nigra	brain
5	chr11:120545800-120552200	Weak transcription	Ovary	ovary
6	chr11:120547000-120551000	Weak transcription	HepG2	liver
7	chr11:120548200-120552000	Weak transcription	Fetal Lung	lung
8	chr11:120550400-120550600	Enhancers	Brain Germinal Matrix	brain
9	chr11:120550600-120551800	Weak transcription	Brain Germinal Matrix	brain
10	chr11:120551000-120551600	Enhancers	HepG2	liver
11	chr11:120551600-120552400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:120551800-120552000	Bivalent Enhancer	Fetal Stomach	stomach
13	chr11:120551800-120552400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:120551800-120552800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:120551800-120553200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:120551800-120553200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr11:120551800-120553200	Enhancers	Brain Germinal Matrix	brain
18	chr11:120552000-120552400	Enhancers	Fetal Brain Female	brain
19	chr11:120552000-120552400	Enhancers	Fetal Lung	lung
20	chr11:120552000-120552600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr11:120552000-120552800	Enhancers	Brain Anterior Caudate	brain
22	chr11:120552000-120553000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:120552000-120553200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr11:120552000-120553200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr11:120552000-120553200	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr11:120552000-120553200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:120552000-120553400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr11:120552000-120553800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:120552200-120552400	Enhancers	H9 Cell Line	embryonic stem cell
30	chr11:120552200-120552600	Enhancers	Brain Substantia Nigra	brain
31	chr11:120552200-120552600	Enhancers	Ovary	ovary
32	chr11:120552200-120553000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr11:120552200-120553000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr11:120552200-120553200	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr11:120552200-120553400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr11:120552200-120554400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:120552400-120553200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:120552400-120553200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr11:120552400-120555200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr11:120552600-120553000	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr11:120553000-120555200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr11:120553200-120553400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:120553200-120553600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:120553200-120555200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr11:120553200-120555200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr11:120553400-120553800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:120553400-120553800	Bivalent Enhancer	NHDF-Ad	bronchial
48	chr11:120553800-120562400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr11:120555200-120555400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr11:120555200-120555800	Active TSS	ES-I3 Cell Line	embryonic stem cell

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