Variant report

Variant	esv3356396
Chromosome Location	chr11:34230201-34232749
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34231932..34233684-chr11:34247435..34249545,2	K562	blood:
2	chr11:34224648..34227495-chr11:34231430..34234571,3	K562	blood:
3	chr11:34229883..34232389-chr11:34271160..34273308,2	K562	blood:
4	chr11:34224684..34227193-chr11:34228730..34230616,2	K562	blood:
5	chr11:34229441..34231710-chr11:34255472..34258756,3	MCF-7	breast:
6	chr11:34214181..34215695-chr11:34230468..34232938,2	MCF-7	breast:
7	chr11:34230274..34232780-chr11:34235455..34237065,2	K562	blood:

Extended variants
information (count: 97 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192536111	chr11:34230210-34230211	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs4402266	chr11:34230221-34230222	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs566434728	chr11:34230247-34230248	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs535083764	chr11:34230270-34230271	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs118023812	chr11:34230288-34230289	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs148621750	chr11:34230289-34230290	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs537988173	chr11:34230290-34230291	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs142064418	chr11:34230353-34230354	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs34277354	chr11:34230400-34230401	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs113372996	chr11:34230434-34230435	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs578117354	chr11:34230437-34230438	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs530165813	chr11:34230447-34230448	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs60307714	chr11:34230460-34230461	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs554193684	chr11:34230516-34230517	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs289985	chr11:34230517-34230518	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs115181660	chr11:34230519-34230520	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs34233324	chr11:34230616-34230617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184523153	chr11:34230618-34230619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374762506	chr11:34230619-34230620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545105547	chr11:34230638-34230639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs56126876	chr11:34230644-34230645	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs533002476	chr11:34230672-34230673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546801583	chr11:34230700-34230701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs117094824	chr11:34230708-34230709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529226475	chr11:34230749-34230750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs59804671	chr11:34230773-34230774	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs568874445	chr11:34230774-34230775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570315682	chr11:34230786-34230787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535488891	chr11:34230805-34230806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375933586	chr11:34230806-34230807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187657893	chr11:34230831-34230832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs4293094	chr11:34230834-34230835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551517997	chr11:34230843-34230844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537705740	chr11:34230855-34230856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs199830482	chr11:34230857-34230858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1022722	chr11:34230870-34230871	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs534111659	chr11:34230897-34230898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373093460	chr11:34230900-34230901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs55954105	chr11:34230908-34230909	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs192660861	chr11:34231042-34231043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs289986	chr11:34231062-34231063	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs556095415	chr11:34231134-34231135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576040612	chr11:34231135-34231136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185003475	chr11:34231147-34231148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558604238	chr11:34231187-34231188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs11032551	chr11:34231391-34231392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572536613	chr11:34231403-34231404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540043996	chr11:34231468-34231469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565441150	chr11:34231485-34231486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs368134081	chr11:34231521-34231522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34208200-34235200	Weak transcription	Adipose Nuclei	Adipose
2	chr11:34215000-34235800	Weak transcription	Brain Anterior Caudate	brain
3	chr11:34215600-34232600	Weak transcription	Fetal Brain Female	brain
4	chr11:34218800-34236600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:34219000-34240800	Weak transcription	Left Ventricle	heart
6	chr11:34219200-34236600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:34225800-34235000	Weak transcription	Liver	Liver
8	chr11:34226200-34236600	Weak transcription	Gastric	stomach
9	chr11:34226600-34244600	Weak transcription	Small Intestine	intestine
10	chr11:34227000-34232400	Enhancers	A549	lung
11	chr11:34227000-34235000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr11:34227000-34236400	Weak transcription	HSMM	muscle
13	chr11:34227000-34236400	Weak transcription	Osteobl	bone
14	chr11:34227000-34236600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:34227000-34244400	Weak transcription	Pancreas	Pancrea
16	chr11:34227400-34236600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr11:34227600-34230600	Enhancers	Fetal Stomach	stomach
18	chr11:34227800-34231200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr11:34228000-34230600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr11:34228000-34230800	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr11:34228200-34230600	Enhancers	Psoas Muscle	Psoas
22	chr11:34228200-34230800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr11:34228400-34230800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr11:34228400-34236400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr11:34228600-34231400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr11:34228600-34235400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:34228600-34236600	Weak transcription	Lung	lung
28	chr11:34228600-34236600	Weak transcription	Right Atrium	heart
29	chr11:34228800-34231600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:34228800-34237200	Enhancers	HepG2	liver
31	chr11:34229000-34231600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:34229000-34235000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:34229200-34230600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:34229200-34235800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr11:34229200-34243000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr11:34229600-34230400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:34229600-34230600	Enhancers	Hela-S3	cervix
38	chr11:34229600-34234200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:34229800-34230400	Enhancers	NHEK	skin
40	chr11:34229800-34230600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:34229800-34230600	Enhancers	Stomach Mucosa	stomach
42	chr11:34229800-34230600	Enhancers	HMEC	breast
43	chr11:34230000-34230400	Enhancers	Duodenum Mucosa	Duodenum
44	chr11:34230000-34230600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:34230000-34230600	Enhancers	Right Ventricle	heart
46	chr11:34230000-34230600	Enhancers	K562	blood
47	chr11:34230000-34230800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr11:34230000-34231600	Weak transcription	Brain Hippocampus Middle	brain
49	chr11:34230000-34234000	Weak transcription	Fetal Lung	lung
50	chr11:34230200-34230400	Enhancers	Primary neutrophils fromperipheralblood	blood

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