Variant report

Variant	esv3352980
Chromosome Location	chr11:45590176-45593574
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:45590756..45592478-chr11:45595501..45597131,2	K562	blood:
2	chr11:45576218..45577748-chr11:45588306..45590762,2	K562	blood:
3	chr11:45576248..45578185-chr11:45589262..45591750,2	K562	blood:
4	chr11:45546554..45548797-chr11:45591196..45594096,2	K562	blood:

Extended variants
information (count: 139 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532644818	chr11:45590192-45590193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552817409	chr11:45590203-45590204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113566950	chr11:45590204-45590205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569429396	chr11:45590212-45590213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534643331	chr11:45590231-45590232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143829801	chr11:45590269-45590270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34869790	chr11:45590299-45590300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548567001	chr11:45590303-45590304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371666553	chr11:45590305-45590306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs17195752	chr11:45590328-45590329	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs368330461	chr11:45590345-45590346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371786828	chr11:45590349-45590350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs60227611	chr11:45590356-45590357	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs529138803	chr11:45590362-45590363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28651892	chr11:45590369-45590370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552930320	chr11:45590416-45590417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566270119	chr11:45590431-45590432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79102420	chr11:45590433-45590434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557527886	chr11:45590434-45590435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1488679	chr11:45590442-45590443	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs575065189	chr11:45590443-45590444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374859178	chr11:45590468-45590469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544113160	chr11:45590470-45590471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554600463	chr11:45590485-45590486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs151107632	chr11:45590492-45590493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553278410	chr11:45590504-45590505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540311014	chr11:45590520-45590521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560499419	chr11:45590523-45590524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565866000	chr11:45590524-45590525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573220855	chr11:45590541-45590542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532659464	chr11:45590586-45590587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369259604	chr11:45590665-45590666	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs546294515	chr11:45590684-45590685	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs140941471	chr11:45590692-45590693	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs1488680	chr11:45590823-45590824	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs548743725	chr11:45590836-45590837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191703597	chr11:45590880-45590881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562292691	chr11:45590883-45590884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549925281	chr11:45590886-45590887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs527976346	chr11:45590887-45590888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146273387	chr11:45590914-45590915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566084348	chr11:45590949-45590950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538367631	chr11:45590962-45590963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184791252	chr11:45590968-45590969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139035383	chr11:45590982-45590983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537671105	chr11:45590983-45590984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554744501	chr11:45591006-45591007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371240645	chr11:45591023-45591024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189234299	chr11:45591146-45591147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534049547	chr11:45591207-45591208	Enhancers 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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45584000-45590400	Weak transcription	Fetal Brain Male	brain
2	chr11:45585800-45598000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:45588800-45590600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:45589000-45591400	Enhancers	Fetal Muscle Leg	muscle
5	chr11:45589200-45590400	Enhancers	HSMMtube	muscle
6	chr11:45589400-45590200	Enhancers	Brain Germinal Matrix	brain
7	chr11:45589400-45590600	Enhancers	Fetal Stomach	stomach
8	chr11:45590000-45590200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr11:45590200-45591400	Enhancers	Fetal Muscle Trunk	muscle
10	chr11:45590400-45592200	Enhancers	Fetal Brain Male	brain
11	chr11:45590600-45590800	Active TSS	Spleen	Spleen
12	chr11:45590600-45591000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:45590800-45592600	Weak transcription	Spleen	Spleen
14	chr11:45591000-45591600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:45591000-45591600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:45591400-45591600	Flanking Active TSS	Fetal Muscle Trunk	muscle
17	chr11:45591600-45592000	Enhancers	Fetal Muscle Trunk	muscle
18	chr11:45591600-45598800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:45592000-45593000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:45592600-45592800	Enhancers	Spleen	Spleen

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