Variant report

Variant	nsv1054407
Chromosome Location	chr11:120535570-120630114
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:41)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:120588756..120591317-chr11:120596716..120599050,2	K562	blood:
2	chr11:120610677..120612695-chr11:120615740..120618273,2	MCF-7	breast:
3	chr11:120610857..120612660-chr11:120620936..120623102,2	K562	blood:
4	chr11:120532271..120534183-chr11:120534962..120537445,2	K562	blood:
5	chr11:120544382..120546404-chr11:120729409..120732174,2	K562	blood:
6	chr11:120586309..120588238-chr11:120588252..120589968,2	MCF-7	breast:
7	chr11:120627392..120628392-chr11:120800177..120801006,5	MCF-7	breast:
8	chr11:120584973..120587715-chr11:120590633..120593353,2	K562	blood:
9	chr11:120588756..120591317-chr11:120596716..120599050,2	K562	blood:
10	chr11:120557344..120559248-chr11:120561871..120563777,2	MCF-7	breast:
11	chr11:120609818..120611371-chr11:120614009..120616949,2	MCF-7	breast:
12	chr11:120504875..120507218-chr11:120535749..120537975,2	MCF-7	breast:
13	chr11:120557930..120559568-chr11:120564023..120565986,2	MCF-7	breast:
14	chr11:120586309..120588238-chr11:120588252..120589968,2	MCF-7	breast:
15	chr11:120629321..120630296-chr11:120800283..120801141,2	MCF-7	breast:
16	chr11:120610677..120612695-chr11:120615740..120618273,2	MCF-7	breast:
17	chr11:120572331..120575238-chr11:120578976..120580756,3	K562	blood:
18	chr11:120572331..120575238-chr11:120578976..120580756,3	K562	blood:
19	chr11:120557344..120559248-chr11:120561871..120563777,2	MCF-7	breast:
20	chr11:120528370..120530123-chr11:120535416..120538098,2	MCF-7	breast:
21	chr11:120381517..120382507-chr11:120555254..120556294,7	K562	blood:
22	chr11:120547489..120549157-chr11:120552655..120555191,2	K562	blood:
23	chr11:120610857..120612660-chr11:120620936..120623102,2	K562	blood:
24	chr11:120584157..120585682-chr11:120588505..120590152,2	MCF-7	breast:
25	chr11:120627260..120628252-chr11:120672656..120673515,2	MCF-7	breast:
26	chr11:120536730..120537365-chr11:120823323..120824097,2	K562	blood:
27	chr11:120196443..120199058-chr11:120588153..120590155,2	MCF-7	breast:
28	chr11:120584973..120587715-chr11:120590633..120593353,2	K562	blood:
29	chr11:120555371..120556243-chr11:120672702..120673511,2	MCF-7	breast:
30	chr11:120564446..120566306-chr11:120573634..120575547,2	MCF-7	breast:
31	chr11:120584157..120585682-chr11:120588505..120590152,2	MCF-7	breast:
32	chr11:120381448..120382769-chr11:120555121..120556291,7	MCF-7	breast:
33	chr11:120557930..120559568-chr11:120564023..120565986,2	MCF-7	breast:
34	chr11:120564446..120566306-chr11:120573634..120575547,2	MCF-7	breast:
35	chr11:120381511..120382316-chr11:120555430..120556211,2	MCF-7	breast:
36	chr11:120627379..120628331-chr11:120823222..120824224,4	MCF-7	breast:
37	chr11:120609818..120611371-chr11:120614009..120616949,2	MCF-7	breast:
38	chr11:120576655..120578167-chr11:120777548..120780496,2	MCF-7	breast:
39	chr11:120586188..120587926-chr11:120590169..120592133,3	K562	blood:
40	chr11:120586188..120587926-chr11:120590169..120592133,3	K562	blood:
41	chr11:120547489..120549157-chr11:120552655..120555191,2	K562	blood:

No data

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

Extended variants
information (count: 3230 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:3230 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531188345	chr11:120535581-120535582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78641571	chr11:120535622-120535623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561620865	chr11:120535660-120535661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115851239	chr11:120535670-120535671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534384654	chr11:120535680-120535681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs386758144	chr11:120535682-120535683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371491155	chr11:120535684-120535685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543304387	chr11:120535685-120535686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566045419	chr11:120535686-120535687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533416369	chr11:120535689-120535690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7928104	chr11:120535694-120535695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558195734	chr11:120535747-120535748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148693116	chr11:120535751-120535752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143447381	chr11:120535770-120535771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146066242	chr11:120535782-120535783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548499794	chr11:120535783-120535784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4936540	chr11:120535816-120535817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140037947	chr11:120535827-120535828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77029614	chr11:120535830-120535831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375597657	chr11:120535875-120535876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7928347	chr11:120535893-120535894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186858895	chr11:120535919-120535920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79168929	chr11:120535958-120535959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11217946	chr11:120536007-120536008	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs190454291	chr11:120536018-120536019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11217947	chr11:120536044-120536045	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs143578747	chr11:120536077-120536078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4936541	chr11:120536081-120536082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs151286747	chr11:120536124-120536125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182230959	chr11:120536129-120536130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560707738	chr11:120536136-120536137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11217948	chr11:120536137-120536138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140474367	chr11:120536143-120536144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150038314	chr11:120536153-120536154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564267418	chr11:120536176-120536177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185962371	chr11:120536196-120536197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570010263	chr11:120536202-120536203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530936642	chr11:120536234-120536235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549067386	chr11:120536400-120536401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145315585	chr11:120536412-120536413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200567984	chr11:120536439-120536440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116331399	chr11:120536452-120536453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11217949	chr11:120536453-120536454	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs189696848	chr11:120536455-120536456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182675704	chr11:120536476-120536477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142656796	chr11:120536486-120536487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375130553	chr11:120536505-120536506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35387351	chr11:120536547-120536548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576214149	chr11:120536598-120536599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146912546	chr11:120536601-120536602	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:707 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120512800-120537800	Weak transcription	Ovary	ovary
2	chr11:120514400-120543600	Weak transcription	Brain Substantia Nigra	brain
3	chr11:120520000-120543800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr11:120533200-120551800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:120533400-120536600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:120533400-120538000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:120533400-120543800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:120533800-120538000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:120534200-120535800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr11:120534200-120538000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:120534200-120538000	Weak transcription	Spleen	Spleen
12	chr11:120536600-120538400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:120536800-120537000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr11:120537200-120537600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr11:120537400-120538400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr11:120537600-120538600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:120537800-120538400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:120537800-120538400	Enhancers	Ovary	ovary
19	chr11:120538000-120538200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:120538000-120538200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr11:120538000-120538200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr11:120538000-120538200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:120538000-120538200	Bivalent Enhancer	Fetal Heart	heart
24	chr11:120538000-120538200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr11:120538000-120538200	Enhancers	Spleen	Spleen
26	chr11:120538000-120538400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:120538000-120538400	Enhancers	Pancreas	Pancrea
28	chr11:120538000-120538400	Bivalent Enhancer	Right Ventricle	heart
29	chr11:120538000-120538600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:120538000-120538600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:120538000-120538600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:120538200-120538400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
33	chr11:120538200-120538400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:120538200-120538400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:120538200-120538400	Bivalent Enhancer	NH-A	brain
36	chr11:120538200-120538600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
37	chr11:120538200-120540000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr11:120538400-120545000	Weak transcription	Ovary	ovary
39	chr11:120538600-120551800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:120538600-120552000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr11:120541200-120541400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr11:120543600-120544400	Enhancers	Brain Substantia Nigra	brain
43	chr11:120543800-120544200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr11:120543800-120544400	Enhancers	Brain Cingulate Gyrus	brain
45	chr11:120543800-120544800	Enhancers	Brain Hippocampus Middle	brain
46	chr11:120543800-120547000	Enhancers	HepG2	liver
47	chr11:120544000-120544400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr11:120544000-120544600	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr11:120544000-120546200	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr11:120544200-120547600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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