Variant report

Variant	esv2761661
Chromosome Location	chr11:34513932-34519578
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:34514573..34518104-chr11:34518598..34523939,6	K562	blood:
2	chr11:34508584..34510728-chr11:34514242..34516382,2	MCF-7	breast:
3	chr11:34516973..34519937-chr11:34521285..34524160,2	MCF-7	breast:
4	chr11:34380939..34381848-chr11:34514131..34515008,2	MCF-7	breast:
5	chr11:34508412..34512527-chr11:34512601..34514689,3	MCF-7	breast:
6	chr11:34514573..34516968-chr11:34518598..34521092,3	K562	blood:
7	chr11:34380514..34381443-chr11:34513937..34515065,4	K562	blood:
8	chr11:34514573..34516968-chr11:34518598..34521092,3	K562	blood:
9	chr11:34514573..34518104-chr11:34518598..34523939,6	K562	blood:

No data

Extended variants
information (count: 213 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:213 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1000768	chr11:34513932-34513933	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191349539	chr11:34513934-34513935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141777596	chr11:34513979-34513980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555619946	chr11:34514015-34514016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548689503	chr11:34514029-34514030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574915455	chr11:34514061-34514062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543759161	chr11:34514081-34514082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182423075	chr11:34514100-34514101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577359912	chr11:34514176-34514177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187935515	chr11:34514217-34514218	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs146272679	chr11:34514226-34514227	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs529477149	chr11:34514236-34514237	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs2420386	chr11:34514271-34514272	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs139455042	chr11:34514283-34514284	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs368723532	chr11:34514295-34514296	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs193046678	chr11:34514301-34514302	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs551757280	chr11:34514302-34514303	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs142704442	chr11:34514337-34514338	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs116380469	chr11:34514350-34514351	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs150812818	chr11:34514360-34514361	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs566584029	chr11:34514381-34514382	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs11608027	chr11:34514412-34514413	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs35298833	chr11:34514420-34514421	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs555378188	chr11:34514496-34514497	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs139260539	chr11:34514514-34514515	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs537741037	chr11:34514562-34514563	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs376698068	chr11:34514621-34514622	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs150004752	chr11:34514634-34514635	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs577198057	chr11:34514749-34514750	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs74793384	chr11:34514761-34514762	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs147700404	chr11:34514781-34514782	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs574171261	chr11:34514789-34514790	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs543156863	chr11:34514791-34514792	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs563183125	chr11:34514796-34514797	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs368316660	chr11:34514803-34514804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374471688	chr11:34514814-34514815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570572795	chr11:34514818-34514819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185702081	chr11:34514840-34514841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368553744	chr11:34514865-34514866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2231823	chr11:34514918-34514919	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs113625066	chr11:34514939-34514940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs737254	chr11:34514941-34514942	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs72558003	chr11:34515009-34515010	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371514980	chr11:34515034-34515035	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375299090	chr11:34515039-34515040	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201472486	chr11:34515047-34515048	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367861770	chr11:34515065-34515066	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200848772	chr11:34515066-34515067	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189827054	chr11:34515067-34515068	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34981489	chr11:34515068-34515069	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	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
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	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
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD

Chromatin state (count:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34512200-34517200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:34513200-34514400	Weak transcription	HepG2	liver
3	chr11:34514200-34514400	Enhancers	Brain Substantia Nigra	brain
4	chr11:34514200-34514400	Enhancers	A549	lung
5	chr11:34514200-34514800	Enhancers	Adipose Nuclei	Adipose
6	chr11:34514200-34514800	Enhancers	Brain Angular Gyrus	brain
7	chr11:34514200-34514800	Active TSS	Brain Anterior Caudate	brain
8	chr11:34514200-34514800	Enhancers	Brain Cingulate Gyrus	brain
9	chr11:34514200-34515000	Enhancers	Brain Hippocampus Middle	brain
10	chr11:34514200-34515400	Enhancers	Osteobl	bone
11	chr11:34514200-34516400	Enhancers	Liver	Liver
12	chr11:34514400-34515600	Enhancers	HepG2	liver
13	chr11:34514800-34515000	Enhancers	Hela-S3	cervix
14	chr11:34514800-34515800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:34515000-34515200	Enhancers	A549	lung
16	chr11:34515000-34515400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:34515000-34515600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:34515200-34515600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:34515200-34516800	Weak transcription	Hela-S3	cervix
20	chr11:34515600-34516600	Weak transcription	HepG2	liver
21	chr11:34516600-34516800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr11:34516600-34516800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:34516600-34517000	Enhancers	Lung	lung
24	chr11:34516600-34517200	Enhancers	HepG2	liver
25	chr11:34516800-34517000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:34516800-34517400	Enhancers	HMEC	breast
27	chr11:34516800-34517600	Enhancers	Hela-S3	cervix
28	chr11:34516800-34519000	Enhancers	Fetal Lung	lung
29	chr11:34517000-34517800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:34517000-34520400	Weak transcription	Lung	lung
31	chr11:34517200-34517400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:34517200-34517400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:34517200-34517400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:34517200-34517600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr11:34517200-34517800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:34517200-34517800	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr11:34517200-34517800	Flanking Active TSS	HepG2	liver
38	chr11:34517400-34517600	Enhancers	H1 Cell Line	embryonic stem cell
39	chr11:34517400-34517800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:34517600-34517800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr11:34517600-34521000	Weak transcription	Hela-S3	cervix
42	chr11:34517800-34518200	Enhancers	Fetal Thymus	thymus
43	chr11:34517800-34518400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:34517800-34519400	Enhancers	HepG2	liver
45	chr11:34518000-34518200	Enhancers	Gastric	stomach
46	chr11:34518200-34522000	Weak transcription	Gastric	stomach
47	chr11:34518400-34534800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr11:34518600-34519000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr11:34519000-34519600	Weak transcription	Fetal Lung	lung
50	chr11:34519400-34521800	Weak transcription	HepG2	liver

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