Variant report

Variant	nsv1053749
Chromosome Location	chr11:120398643-120417586
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:120400831..120403773-chr11:120408682..120411578,3	K562	blood:
2	chr11:120400831..120403773-chr11:120408317..120411578,3	K562	blood:
3	chr11:120392853..120394571-chr11:120399376..120402273,2	MCF-7	breast:
4	chr11:120416706..120419405-chr11:120427869..120430423,2	K562	blood:
5	chr11:120400831..120403773-chr11:120408682..120411578,3	K562	blood:
6	chr11:120400831..120403773-chr11:120408317..120411578,3	K562	blood:
7	chr11:120395943..120398129-chr11:120408243..120411100,2	K562	blood:
8	chr11:120415952..120418206-chr11:120428187..120430423,2	K562	blood:

No data

Extended variants
information (count: 757 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:757 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17092876	chr11:120398643-120398644	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529920440	chr11:120398644-120398645	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs544235124	chr11:120398665-120398666	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs562340703	chr11:120398695-120398696	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs548030940	chr11:120398698-120398699	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs59912111	chr11:120398707-120398708	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs527618873	chr11:120398721-120398722	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs190598701	chr11:120398733-120398734	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs61226783	chr11:120398747-120398748	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs118089075	chr11:120398765-120398766	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs556249354	chr11:120398766-120398767	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs61900894	chr11:120398787-120398788	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs570567837	chr11:120398836-120398837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs367712271	chr11:120398857-120398858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536056372	chr11:120398907-120398908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144223347	chr11:120398935-120398936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572675421	chr11:120398970-120398971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562137147	chr11:120398977-120398978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183555935	chr11:120398981-120398982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558473676	chr11:120399009-120399010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576520124	chr11:120399010-120399011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148757024	chr11:120399027-120399028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141464722	chr11:120399066-120399067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368516239	chr11:120399067-120399068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568344133	chr11:120399071-120399072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541503020	chr11:120399086-120399087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559960086	chr11:120399091-120399092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188585445	chr11:120399092-120399093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34414148	chr11:120399100-120399101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570387891	chr11:120399106-120399107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111800793	chr11:120399111-120399112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192725156	chr11:120399115-120399116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150881071	chr11:120399116-120399117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535243993	chr11:120399182-120399183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376620834	chr11:120399202-120399203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112905766	chr11:120399230-120399231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144522231	chr11:120399264-120399265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2851410	chr11:120399287-120399288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75416847	chr11:120399301-120399302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116171285	chr11:120399341-120399342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573973871	chr11:120399370-120399371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534336742	chr11:120399389-120399390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140169427	chr11:120399422-120399423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149678639	chr11:120399466-120399467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543949682	chr11:120399480-120399481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79915553	chr11:120399486-120399487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116619731	chr11:120399565-120399566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531549576	chr11:120399566-120399567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184171064	chr11:120399573-120399574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552601246	chr11:120399637-120399638	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120388800-120403400	Weak transcription	Right Atrium	heart
2	chr11:120395000-120399000	Weak transcription	Spleen	Spleen
3	chr11:120395600-120399000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:120397200-120398800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr11:120397400-120398800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr11:120397600-120398800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr11:120397600-120398800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr11:120397600-120398800	Enhancers	Fetal Muscle Leg	muscle
9	chr11:120397800-120398800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr11:120398400-120398800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:120398400-120400000	Weak transcription	Fetal Intestine Large	intestine
12	chr11:120398400-120402800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:120398400-120403000	Weak transcription	NH-A	brain
14	chr11:120398600-120399800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:120398600-120402000	Weak transcription	Ovary	ovary
16	chr11:120398600-120402800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:120398600-120403000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:120398600-120403000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr11:120398600-120403200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr11:120398600-120403200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr11:120398600-120403400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:120398600-120403400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:120398600-120417200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:120398800-120402800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr11:120398800-120408800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr11:120399000-120402800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:120399600-120399800	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
28	chr11:120399800-120400000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:120400000-120402600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:120400000-120404200	Enhancers	Fetal Intestine Large	intestine
31	chr11:120400000-120404400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr11:120400400-120401600	Enhancers	Fetal Intestine Small	intestine
33	chr11:120401600-120402600	Weak transcription	Fetal Intestine Small	intestine
34	chr11:120401600-120402600	Bivalent Enhancer	HepG2	liver
35	chr11:120402000-120403200	Enhancers	Ovary	ovary
36	chr11:120402600-120402800	Flanking Bivalent TSS/Enh	HepG2	liver
37	chr11:120402600-120403200	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr11:120402600-120404000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:120402600-120404400	Enhancers	Fetal Intestine Small	intestine
40	chr11:120402800-120403000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr11:120402800-120403000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:120402800-120403000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:120402800-120403000	Enhancers	Spleen	Spleen
44	chr11:120402800-120403000	Bivalent Enhancer	Osteobl	bone
45	chr11:120402800-120403200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:120402800-120403200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:120402800-120403200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr11:120402800-120403600	Flanking Active TSS	NHDF-Ad	bronchial
49	chr11:120402800-120403800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:120402800-120403800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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