Variant report

Variant	esv3479496
Chromosome Location	chr11:120352421-120354761
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120351611..120354490-chr11:120357037..120360883,5	K562	blood:

Extended variants
information (count: 103 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181805180	chr11:120352441-120352442	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368291762	chr11:120352464-120352465	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75237712	chr11:120352485-120352486	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78557240	chr11:120352487-120352488	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564230592	chr11:120352499-120352500	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185746961	chr11:120352500-120352501	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190450528	chr11:120352503-120352504	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs180915409	chr11:120352507-120352508	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548808100	chr11:120352528-120352529	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531540976	chr11:120352625-120352626	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200163166	chr11:120352645-120352646	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531626077	chr11:120352650-120352651	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77484756	chr11:120352704-120352705	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189758213	chr11:120352710-120352711	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539358691	chr11:120352711-120352712	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551257104	chr11:120352720-120352721	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550223695	chr11:120352743-120352744	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536699872	chr11:120352748-120352749	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181383489	chr11:120352758-120352759	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561574487	chr11:120352760-120352761	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566990644	chr11:120352769-120352770	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185657983	chr11:120352789-120352790	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150310584	chr11:120352799-120352800	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191761786	chr11:120352813-120352814	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529036378	chr11:120352870-120352871	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544910678	chr11:120352882-120352883	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138045287	chr11:120352934-120352935	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374798471	chr11:120352944-120352945	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs367689842	chr11:120352963-120352964	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547508791	chr11:120352973-120352974	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559964877	chr11:120353027-120353028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560703573	chr11:120353036-120353037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12418336	chr11:120353041-120353042	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs12418325	chr11:120353072-120353073	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs566119535	chr11:120353116-120353117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144024138	chr11:120353126-120353127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61898767	chr11:120353153-120353154	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs35167040	chr11:120353177-120353178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569574530	chr11:120353183-120353184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568567366	chr11:120353184-120353185	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548592702	chr11:120353193-120353194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566726493	chr11:120353230-120353231	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs61898768	chr11:120353237-120353238	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs558586081	chr11:120353251-120353252	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537772625	chr11:120353262-120353263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12279045	chr11:120353286-120353287	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556082020	chr11:120353296-120353297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375005081	chr11:120353297-120353298	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12794946	chr11:120353298-120353299	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs538491946	chr11:120353320-120353321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:180 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120301400-120355200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:120303600-120355600	Weak transcription	Stomach Mucosa	stomach
3	chr11:120304800-120359400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:120308000-120352600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:120308000-120359000	Strong transcription	Placenta	Placenta
6	chr11:120308400-120357800	Strong transcription	Adipose Nuclei	Adipose
7	chr11:120310400-120358000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:120311200-120357200	Strong transcription	Duodenum Smooth Muscle	Duodenum
9	chr11:120312400-120354000	Strong transcription	Duodenum Mucosa	Duodenum
10	chr11:120312800-120357800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr11:120314200-120362200	Strong transcription	Liver	Liver
12	chr11:120315200-120353000	Strong transcription	Fetal Brain Female	brain
13	chr11:120316400-120382000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:120320000-120358000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:120320200-120357600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:120321000-120358000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr11:120329000-120358800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:120335200-120359600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:120335800-120354000	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:120336200-120358600	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr11:120337400-120354200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr11:120337600-120357200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:120339800-120362200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr11:120340000-120353600	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr11:120341400-120355600	Weak transcription	Psoas Muscle	Psoas
26	chr11:120342200-120358400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:120342800-120353800	Strong transcription	HSMM	muscle
28	chr11:120342800-120358800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:120343200-120353200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:120343200-120354200	Strong transcription	Fetal Intestine Large	intestine
31	chr11:120343400-120353200	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr11:120343600-120357200	Strong transcription	Stomach Smooth Muscle	stomach
33	chr11:120343800-120353800	Strong transcription	NH-A	brain
34	chr11:120343800-120358000	Strong transcription	Osteobl	bone
35	chr11:120344000-120353800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:120344000-120359200	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr11:120344200-120352600	Strong transcription	Brain Anterior Caudate	brain
38	chr11:120344200-120353800	Strong transcription	Fetal Lung	lung
39	chr11:120344200-120353800	Strong transcription	NHDF-Ad	bronchial
40	chr11:120344200-120354000	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr11:120344200-120358600	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr11:120345200-120353200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:120345200-120353200	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr11:120345200-120358400	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr11:120345400-120352600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:120345400-120352600	Strong transcription	Rectal Smooth Muscle	rectum
47	chr11:120345400-120356600	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr11:120345600-120352600	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr11:120345600-120353000	Strong transcription	HUVEC	blood vessel
50	chr11:120345600-120353400	Strong transcription	Sigmoid Colon	Sigmoid Colon

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