Variant report

Variant	nsv541026
Chromosome Location	chr11:45430802-45494235
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:45475301..45477081-chr11:45482793..45484529,2	K562	blood:
2	chr11:45488928..45491799-chr11:45499430..45501355,2	K562	blood:
3	chr11:45434026..45435982-chr11:45444753..45447322,2	K562	blood:
4	chr11:45445126..45446651-chr11:45453996..45455629,2	K562	blood:
5	chr11:45445126..45446651-chr11:45453996..45455629,2	K562	blood:
6	chr11:45467808..45470251-chr11:45470633..45473051,2	K562	blood:
7	chr11:45471412..45471912-chr22:22020793..22021786,2	MCF-7	breast:
8	chr11:45441248..45443305-chr11:45447656..45449205,2	K562	blood:
9	chr11:45441248..45443305-chr11:45447656..45449205,2	K562	blood:
10	chr11:45434026..45435982-chr11:45444753..45447322,2	K562	blood:
11	chr1:26758496..26759237-chr11:45476532..45477032,2	Hela-S3	cervix:
12	chr11:45435401..45438353-chr11:45439674..45442968,4	K562	blood:
13	chr11:45475301..45477081-chr11:45482793..45484529,2	K562	blood:
14	chr11:45481521..45483456-chr11:45488873..45491103,2	MCF-7	breast:
15	chr11:45481521..45483456-chr11:45488873..45491103,2	MCF-7	breast:
16	chr11:45427988..45430237-chr11:45431939..45433599,2	K562	blood:
17	chr11:45467808..45470251-chr11:45470633..45473051,2	K562	blood:
18	chr11:45435401..45438353-chr11:45439674..45442968,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000117682	chromatin interactions

Extended variants
information (count: 2587 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:2587 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143206014	chr11:45430802-45430803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548105722	chr11:45430828-45430829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs80002508	chr11:45430845-45430846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538677634	chr11:45430867-45430868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573463532	chr11:45430869-45430870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184135731	chr11:45430890-45430891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545350800	chr11:45430914-45430915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116167337	chr11:45430915-45430916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs578170620	chr11:45430983-45430984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115217417	chr11:45431009-45431010	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs565155760	chr11:45431022-45431023	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs554778257	chr11:45431029-45431030	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs141618953	chr11:45431070-45431071	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs188319028	chr11:45431110-45431111	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs180682042	chr11:45431161-45431162	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs138907053	chr11:45431199-45431200	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs142710743	chr11:45431343-45431344	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs187303277	chr11:45431456-45431457	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs545306717	chr11:45431478-45431479	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs575710653	chr11:45431494-45431495	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs190486850	chr11:45431620-45431621	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541937094	chr11:45431630-45431631	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561932004	chr11:45431631-45431632	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527916276	chr11:45431632-45431633	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73456054	chr11:45431637-45431638	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs115007857	chr11:45431686-45431687	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77394777	chr11:45431700-45431701	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552156497	chr11:45431715-45431716	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372501085	chr11:45431758-45431759	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141769006	chr11:45431802-45431803	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568895537	chr11:45431824-45431825	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531417151	chr11:45431844-45431845	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182024910	chr11:45431855-45431856	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187074830	chr11:45431858-45431859	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534033378	chr11:45431885-45431886	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553691397	chr11:45431902-45431903	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569187223	chr11:45431946-45431947	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147343516	chr11:45431967-45431968	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73456055	chr11:45432021-45432022	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs536546779	chr11:45432022-45432023	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576064926	chr11:45432030-45432031	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541901962	chr11:45432033-45432034	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139569399	chr11:45432072-45432073	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190481106	chr11:45432119-45432120	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541574417	chr11:45432144-45432145	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111789081	chr11:45432159-45432160	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564527872	chr11:45432176-45432177	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533649587	chr11:45432178-45432179	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544145370	chr11:45432194-45432195	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561086242	chr11:45432201-45432202	Enhancers Bivalent Enhancer Flanking Active TSS 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:401 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45405400-45434800	Weak transcription	Right Atrium	heart
2	chr11:45421800-45431600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:45422000-45431600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:45423800-45431400	Weak transcription	HSMM	muscle
5	chr11:45425000-45431400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:45429000-45431200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr11:45429000-45431600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:45429000-45432000	Weak transcription	Spleen	Spleen
9	chr11:45429200-45431600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:45429200-45431800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:45429400-45431600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:45429800-45431600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:45430600-45435800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:45430800-45431000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:45430800-45434800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr11:45431000-45431400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:45431000-45432200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
18	chr11:45431000-45433600	Enhancers	NH-A	brain
19	chr11:45431000-45434400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:45431000-45434600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:45431200-45431400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:45431200-45432200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr11:45431200-45434400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:45431400-45431600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:45431400-45431600	Enhancers	HSMM	muscle
26	chr11:45431400-45431800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:45431400-45432000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
28	chr11:45431400-45432200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:45431400-45432600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr11:45431400-45432800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:45431400-45434200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:45431600-45432000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr11:45431600-45432000	Weak transcription	HSMM	muscle
34	chr11:45431600-45432400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr11:45431600-45432600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr11:45431600-45432600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:45431600-45433400	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr11:45431600-45434000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:45431600-45434800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr11:45431600-45434800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:45431800-45432400	Enhancers	H9 Cell Line	embryonic stem cell
42	chr11:45431800-45432400	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr11:45431800-45432800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:45431800-45433200	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr11:45431800-45433800	Enhancers	Brain Angular Gyrus	brain
46	chr11:45431800-45434000	Enhancers	Fetal Brain Male	brain
47	chr11:45431800-45434600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:45431800-45434600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
49	chr11:45432000-45432200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr11:45432000-45432200	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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