Variant report

Variant	nsv541180
Chromosome Location	chr11:120582595-120630114
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:120588756..120591317-chr11:120596716..120599050,2	K562	blood:
2	chr11:120610857..120612660-chr11:120620936..120623102,2	K562	blood:
3	chr11:120586188..120587926-chr11:120590169..120592133,3	K562	blood:
4	chr11:120586309..120588238-chr11:120588252..120589968,2	MCF-7	breast:
5	chr11:120627260..120628252-chr11:120672656..120673515,2	MCF-7	breast:
6	chr11:120610857..120612660-chr11:120620936..120623102,2	K562	blood:
7	chr11:120627392..120628392-chr11:120800177..120801006,5	MCF-7	breast:
8	chr11:120610677..120612695-chr11:120615740..120618273,2	MCF-7	breast:
9	chr11:120584973..120587715-chr11:120590633..120593353,2	K562	blood:
10	chr11:120586309..120588238-chr11:120588252..120589968,2	MCF-7	breast:
11	chr11:120196443..120199058-chr11:120588153..120590155,2	MCF-7	breast:
12	chr11:120627379..120628331-chr11:120823222..120824224,4	MCF-7	breast:
13	chr11:120610677..120612695-chr11:120615740..120618273,2	MCF-7	breast:
14	chr11:120609818..120611371-chr11:120614009..120616949,2	MCF-7	breast:
15	chr11:120584973..120587715-chr11:120590633..120593353,2	K562	blood:
16	chr11:120586188..120587926-chr11:120590169..120592133,3	K562	blood:
17	chr11:120584157..120585682-chr11:120588505..120590152,2	MCF-7	breast:
18	chr11:120609818..120611371-chr11:120614009..120616949,2	MCF-7	breast:
19	chr11:120588756..120591317-chr11:120596716..120599050,2	K562	blood:
20	chr11:120629321..120630296-chr11:120800283..120801141,2	MCF-7	breast:
21	chr11:120584157..120585682-chr11:120588505..120590152,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000181264	chromatin interactions

Extended variants
information (count: 1286 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:1286 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11412731	chr11:120582697-120582698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs397937647	chr11:120582698-120582699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560109710	chr11:120582755-120582756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533618377	chr11:120582764-120582765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372273737	chr11:120582806-120582807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143816058	chr11:120582834-120582835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146631869	chr11:120582839-120582840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7933959	chr11:120582845-120582846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549184034	chr11:120582870-120582871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12279885	chr11:120582923-120582924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535291263	chr11:120582955-120582956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554384739	chr11:120582966-120582967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141522299	chr11:120582977-120582978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150866768	chr11:120582978-120582979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs193069205	chr11:120583003-120583004	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs575925774	chr11:120583017-120583018	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs537184905	chr11:120583083-120583084	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs560973581	chr11:120583122-120583123	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs555184834	chr11:120583163-120583164	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs6589834	chr11:120583174-120583175	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs541646515	chr11:120583193-120583194	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs370113972	chr11:120583194-120583195	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs559944586	chr11:120583218-120583219	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs578259605	chr11:120583221-120583222	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs72232565	chr11:120583333-120583334	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs185066553	chr11:120583343-120583344	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs563726592	chr11:120583346-120583347	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs572645240	chr11:120583395-120583396	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs546502350	chr11:120583454-120583455	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs374392857	chr11:120583471-120583472	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs542983229	chr11:120583500-120583501	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs561052412	chr11:120583551-120583552	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs139418652	chr11:120583594-120583595	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs149633079	chr11:120583595-120583596	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs17124226	chr11:120583601-120583602	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs116963668	chr11:120583614-120583615	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs190688923	chr11:120583793-120583794	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs12281614	chr11:120583803-120583804	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs536668689	chr11:120583824-120583825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77660984	chr11:120583845-120583846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139834580	chr11:120583847-120583848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371434725	chr11:120583871-120583872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550062239	chr11:120583895-120583896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374683441	chr11:120583896-120583897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569271497	chr11:120583914-120583915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534696120	chr11:120583953-120583954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs11217989	chr11:120583983-120583984	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs536092679	chr11:120583986-120583987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143163853	chr11:120584011-120584012	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs545716088	chr11:120584017-120584018	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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

Chromatin state (count:422 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120579000-120583000	Enhancers	Fetal Intestine Large	intestine
2	chr11:120579200-120585200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:120580000-120585800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:120580200-120583800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:120580400-120583000	Enhancers	Brain Hippocampus Middle	brain
6	chr11:120580400-120583000	Enhancers	Fetal Lung	lung
7	chr11:120580400-120583800	Enhancers	NHDF-Ad	bronchial
8	chr11:120580600-120582600	Enhancers	NH-A	brain
9	chr11:120580600-120583000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:120580600-120583000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:120580600-120583000	Enhancers	Osteobl	bone
12	chr11:120580600-120583200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:120580600-120583600	Enhancers	NHLF	lung
14	chr11:120580800-120582600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:120580800-120582600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:120580800-120582600	Enhancers	Fetal Stomach	stomach
17	chr11:120580800-120582800	Enhancers	Brain Substantia Nigra	brain
18	chr11:120580800-120583000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr11:120580800-120583000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:120580800-120583000	Enhancers	Placenta	Placenta
21	chr11:120581000-120582600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr11:120581000-120582800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:120581000-120583000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr11:120581000-120583000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:120581000-120583000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:120581000-120583000	Enhancers	Fetal Intestine Small	intestine
27	chr11:120581000-120583800	Enhancers	GM12878-XiMat	blood
28	chr11:120581000-120585200	Enhancers	Fetal Kidney	kidney
29	chr11:120581000-120585800	Enhancers	Ovary	ovary
30	chr11:120581400-120582600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
31	chr11:120581400-120582600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
32	chr11:120581600-120583000	Weak transcription	HSMMtube	muscle
33	chr11:120581600-120583200	Enhancers	Adipose Nuclei	Adipose
34	chr11:120581800-120583000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:120581800-120583800	Enhancers	HepG2	liver
36	chr11:120581800-120585800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr11:120582000-120582600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr11:120582000-120584800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr11:120582000-120585000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr11:120582200-120582600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr11:120582200-120584000	Weak transcription	Lung	lung
42	chr11:120582200-120585600	Weak transcription	Brain Angular Gyrus	brain
43	chr11:120582200-120585600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr11:120582200-120585800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr11:120582200-120587200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr11:120582200-120587200	Weak transcription	Colon Smooth Muscle	Colon
47	chr11:120582200-120588800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr11:120582400-120583000	Enhancers	Colonic Mucosa	Colon
49	chr11:120582400-120585600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr11:120582600-120582800	Enhancers	Placenta Amnion	Placenta Amnion

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