Variant report

Variant	nsv1035430
Chromosome Location	chr11:45455431-45487231
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	chr11:45471412..45471912-chr22:22020793..22021786,2	MCF-7	breast:
2	chr11:45475301..45477081-chr11:45482793..45484529,2	K562	blood:
3	chr11:45467808..45470251-chr11:45470633..45473051,2	K562	blood:
4	chr11:45481521..45483456-chr11:45488873..45491103,2	MCF-7	breast:
5	chr11:45445126..45446651-chr11:45453996..45455629,2	K562	blood:
6	chr1:26758496..26759237-chr11:45476532..45477032,2	Hela-S3	cervix:
7	chr11:45475301..45477081-chr11:45482793..45484529,2	K562	blood:
8	chr11:45467808..45470251-chr11:45470633..45473051,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000117682	chromatin interactions

Extended variants
information (count: 1342 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1342 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1387055	chr11:45455431-45455432	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577454805	chr11:45455443-45455444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182312027	chr11:45455495-45455496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558585978	chr11:45455518-45455519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575264421	chr11:45455519-45455520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11038465	chr11:45455522-45455523	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs114211080	chr11:45455554-45455555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574497995	chr11:45455579-45455580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185533544	chr11:45455581-45455582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567160112	chr11:45455643-45455644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112790797	chr11:45455675-45455676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146039557	chr11:45455760-45455761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562443765	chr11:45455762-45455763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558548595	chr11:45455763-45455764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1948169	chr11:45455774-45455775	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs139818734	chr11:45455785-45455786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548192350	chr11:45455816-45455817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs57499770	chr11:45455837-45455838	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs188955886	chr11:45455847-45455848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79740855	chr11:45455900-45455901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571075615	chr11:45455936-45455937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539648706	chr11:45455964-45455965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556856871	chr11:45455978-45455979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576824665	chr11:45455979-45455980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7951947	chr11:45456090-45456091	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs554633051	chr11:45456111-45456112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs17723819	chr11:45456128-45456129	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs540363115	chr11:45456152-45456153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7951748	chr11:45456156-45456157	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs542811614	chr11:45456183-45456184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576920637	chr11:45456207-45456208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545600724	chr11:45456216-45456217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562406955	chr11:45456217-45456218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531521770	chr11:45456233-45456234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370885980	chr11:45456253-45456254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562155649	chr11:45456269-45456270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139958457	chr11:45456275-45456276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12282689	chr11:45456300-45456301	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs149671179	chr11:45456315-45456316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74929382	chr11:45456324-45456325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550420065	chr11:45456358-45456359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528402798	chr11:45456359-45456360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570344278	chr11:45456379-45456380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78370737	chr11:45456405-45456406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144422108	chr11:45456415-45456416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568094477	chr11:45456459-45456460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544994489	chr11:45456474-45456475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114602402	chr11:45456487-45456488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115656268	chr11:45456502-45456503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576877802	chr11:45456504-45456505	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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45436400-45456800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:45447800-45462400	Weak transcription	Fetal Brain Male	brain
3	chr11:45456800-45457000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:45456800-45457800	Enhancers	Spleen	Spleen
5	chr11:45457000-45457400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
6	chr11:45457000-45466200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:45457200-45457600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:45457200-45457600	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr11:45457200-45458000	Bivalent Enhancer	Fetal Stomach	stomach
10	chr11:45457200-45458200	Enhancers	Brain Germinal Matrix	brain
11	chr11:45457200-45459200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr11:45457400-45458000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:45457400-45458000	Bivalent Enhancer	Brain Substantia Nigra	brain
14	chr11:45457400-45458400	Bivalent Enhancer	Brain Hippocampus Middle	brain
15	chr11:45457400-45458600	Enhancers	Brain Anterior Caudate	brain
16	chr11:45457400-45459000	Enhancers	Brain Cingulate Gyrus	brain
17	chr11:45457400-45459200	Enhancers	Brain Angular Gyrus	brain
18	chr11:45457400-45459200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:45457600-45459000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr11:45457800-45458200	Bivalent Enhancer	Osteobl	bone
21	chr11:45458200-45459000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr11:45459000-45459200	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr11:45459000-45459200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
24	chr11:45459000-45463400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr11:45461600-45463000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:45462400-45462600	Enhancers	Fetal Brain Male	brain
27	chr11:45462600-45470600	Weak transcription	Fetal Brain Male	brain
28	chr11:45463400-45463800	Enhancers	Brain Cingulate Gyrus	brain
29	chr11:45466000-45466200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr11:45466200-45466600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:45466200-45466600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:45466200-45466800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr11:45466200-45467000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr11:45466200-45467000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr11:45466200-45467000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:45466200-45467000	Enhancers	HMEC	breast
37	chr11:45466200-45467000	Bivalent Enhancer	NHEK	skin
38	chr11:45466400-45466800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:45466600-45467000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr11:45466600-45467000	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr11:45466600-45467000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:45466600-45474200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:45466800-45467000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr11:45469400-45471000	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr11:45469600-45469800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr11:45469800-45470600	Enhancers	Fetal Muscle Trunk	muscle
47	chr11:45469800-45471600	Bivalent Enhancer	Fetal Stomach	stomach
48	chr11:45470000-45470600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
49	chr11:45470200-45471200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:45470200-45471800	Enhancers	Spleen	Spleen

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