Variant report

Variant	nsv541027
Chromosome Location	chr11:45457920-45506491
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:45481521..45483456-chr11:45488873..45491103,2	MCF-7	breast:
2	chr11:45471412..45471912-chr22:22020793..22021786,2	MCF-7	breast:
3	chr11:45475301..45477081-chr11:45482793..45484529,2	K562	blood:
4	chr11:45467808..45470251-chr11:45470633..45473051,2	K562	blood:
5	chr11:45488928..45491799-chr11:45499430..45501355,2	K562	blood:
6	chr11:45467808..45470251-chr11:45470633..45473051,2	K562	blood:
7	chr11:45481521..45483456-chr11:45488873..45491103,2	MCF-7	breast:
8	chr11:45488928..45491799-chr11:45499430..45501355,2	K562	blood:
9	chr11:45475301..45477081-chr11:45482793..45484529,2	K562	blood:
10	chr1:26758496..26759237-chr11:45476532..45477032,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000117682	chromatin interactions

Extended variants
information (count: 2027 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:2027 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559729424	chr11:45457986-45457987	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12284900	chr11:45457987-45457988	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs150195349	chr11:45457995-45457996	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565247586	chr11:45457997-45457998	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542423642	chr11:45458080-45458081	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs532732701	chr11:45458089-45458090	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs549391171	chr11:45458138-45458139	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs181101255	chr11:45458150-45458151	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs186139957	chr11:45458157-45458158	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs549153716	chr11:45458169-45458170	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs553155412	chr11:45458176-45458177	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs566367737	chr11:45458202-45458203	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs565781661	chr11:45458233-45458234	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs558041476	chr11:45458291-45458292	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs578008716	chr11:45458324-45458325	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs75243750	chr11:45458369-45458370	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs138752452	chr11:45458381-45458382	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs1387056	chr11:45458418-45458419	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs77632470	chr11:45458462-45458463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559801077	chr11:45458486-45458487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76409268	chr11:45458496-45458497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs117227152	chr11:45458548-45458549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565213357	chr11:45458563-45458564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144286654	chr11:45458567-45458568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370789618	chr11:45458584-45458585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368763715	chr11:45458600-45458601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190990847	chr11:45458623-45458624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562986647	chr11:45458662-45458663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528977997	chr11:45458685-45458686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183919633	chr11:45458694-45458695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188866178	chr11:45458754-45458755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565774084	chr11:45458756-45458757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143729021	chr11:45458784-45458785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551624303	chr11:45458798-45458799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571544582	chr11:45458825-45458826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537377133	chr11:45458844-45458845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs72901478	chr11:45458853-45458854	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs12286627	chr11:45458867-45458868	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs138296764	chr11:45458898-45458899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553158508	chr11:45458916-45458917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371351614	chr11:45458942-45458943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560784240	chr11:45459062-45459063	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs190702662	chr11:45459067-45459068	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs545178975	chr11:45459109-45459110	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs7942441	chr11:45459116-45459117	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs142587245	chr11:45459120-45459121	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs546403664	chr11:45459140-45459141	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs544553254	chr11:45459144-45459145	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs561627394	chr11:45459202-45459203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145990466	chr11:45459281-45459282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:238 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45447800-45462400	Weak transcription	Fetal Brain Male	brain
2	chr11:45457000-45466200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:45457200-45458000	Bivalent Enhancer	Fetal Stomach	stomach
4	chr11:45457200-45458200	Enhancers	Brain Germinal Matrix	brain
5	chr11:45457200-45459200	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr11:45457400-45458000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:45457400-45458000	Bivalent Enhancer	Brain Substantia Nigra	brain
8	chr11:45457400-45458400	Bivalent Enhancer	Brain Hippocampus Middle	brain
9	chr11:45457400-45458600	Enhancers	Brain Anterior Caudate	brain
10	chr11:45457400-45459000	Enhancers	Brain Cingulate Gyrus	brain
11	chr11:45457400-45459200	Enhancers	Brain Angular Gyrus	brain
12	chr11:45457400-45459200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:45457600-45459000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr11:45457800-45458200	Bivalent Enhancer	Osteobl	bone
15	chr11:45458200-45459000	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr11:45459000-45459200	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr11:45459000-45459200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
18	chr11:45459000-45463400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr11:45461600-45463000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:45462400-45462600	Enhancers	Fetal Brain Male	brain
21	chr11:45462600-45470600	Weak transcription	Fetal Brain Male	brain
22	chr11:45463400-45463800	Enhancers	Brain Cingulate Gyrus	brain
23	chr11:45466000-45466200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:45466200-45466600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:45466200-45466600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:45466200-45466800	Enhancers	H1 Cell Line	embryonic stem cell
27	chr11:45466200-45467000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr11:45466200-45467000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr11:45466200-45467000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:45466200-45467000	Enhancers	HMEC	breast
31	chr11:45466200-45467000	Bivalent Enhancer	NHEK	skin
32	chr11:45466400-45466800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:45466600-45467000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr11:45466600-45467000	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr11:45466600-45467000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:45466600-45474200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:45466800-45467000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr11:45469400-45471000	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr11:45469600-45469800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr11:45469800-45470600	Enhancers	Fetal Muscle Trunk	muscle
41	chr11:45469800-45471600	Bivalent Enhancer	Fetal Stomach	stomach
42	chr11:45470000-45470600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
43	chr11:45470200-45471200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:45470200-45471800	Enhancers	Spleen	Spleen
45	chr11:45470200-45473800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:45470400-45470800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:45470400-45471000	Enhancers	Fetal Lung	lung
48	chr11:45470400-45471200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:45470600-45471200	Enhancers	Fetal Brain Male	brain
50	chr11:45470600-45473400	Enhancers	Osteobl	bone

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