Variant report

Variant	esv15386
Chromosome Location	chr11:34372810-34373616
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34366426..34367988-chr11:34371579..34373367,2	MCF-7	breast:
2	chr11:34368537..34371450-chr11:34371767..34375088,3	K562	blood:
3	chr11:34194734..34196633-chr11:34370779..34372924,2	MCF-7	breast:
4	chr11:34373418..34375103-chr11:34377967..34379772,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166016	chromatin interactions

Extended variants
information (count: 42 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1810507	chr11:34372865-34372866	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555602286	chr11:34372954-34372955	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs5790989	chr11:34372961-34372962	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs397772599	chr11:34372963-34372964	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs71481482	chr11:34372964-34372965	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4993520	chr11:34372970-34372971	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs1810506	chr11:34373057-34373058	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs564093573	chr11:34373099-34373100	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs187515488	chr11:34373106-34373107	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs540322367	chr11:34373128-34373129	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs35998612	chr11:34373143-34373144	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs397759982	chr11:34373147-34373148	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs559857893	chr11:34373150-34373151	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs528966849	chr11:34373158-34373159	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs549120266	chr11:34373199-34373200	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs145682895	chr11:34373249-34373250	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs531866559	chr11:34373254-34373255	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs192752976	chr11:34373260-34373261	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs571611870	chr11:34373276-34373277	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs3981192	chr11:34373285-34373286	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs370846828	chr11:34373288-34373289	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs386752335	chr11:34373293-34373294	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs10836194	chr11:34373294-34373295	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs78579322	chr11:34373306-34373307	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs555567480	chr11:34373310-34373311	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs7947362	chr11:34373318-34373319	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs538122286	chr11:34373333-34373334	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs528076421	chr11:34373376-34373377	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs3981191	chr11:34373380-34373381	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs577559779	chr11:34373385-34373386	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs2092485	chr11:34373406-34373407	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs559722423	chr11:34373434-34373435	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs1883736	chr11:34373443-34373444	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs910088	chr11:34373463-34373464	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs148930521	chr11:34373469-34373470	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs5790990	chr11:34373481-34373482	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs200425669	chr11:34373489-34373490	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs531855307	chr11:34373492-34373493	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs545673604	chr11:34373497-34373498	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs565398412	chr11:34373510-34373511	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs185411446	chr11:34373559-34373560	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs75189379	chr11:34373571-34373572	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34364200-34376600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:34366400-34374000	Enhancers	Psoas Muscle	Psoas
3	chr11:34367000-34376200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr11:34367200-34375200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:34367400-34376400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr11:34367800-34376400	Weak transcription	Pancreas	Pancrea
7	chr11:34368200-34373000	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr11:34368200-34375000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:34368200-34376600	Weak transcription	Brain Angular Gyrus	brain
10	chr11:34368400-34375800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr11:34368400-34376200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:34368400-34377800	Weak transcription	Gastric	stomach
13	chr11:34368600-34373200	Enhancers	HSMMtube	muscle
14	chr11:34368600-34374200	Weak transcription	Stomach Mucosa	stomach
15	chr11:34368600-34376400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:34368800-34374800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr11:34368800-34376200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr11:34368800-34376200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:34370800-34373000	Enhancers	GM12878-XiMat	blood
20	chr11:34370800-34376400	Weak transcription	Lung	lung
21	chr11:34371000-34376400	Weak transcription	Fetal Heart	heart
22	chr11:34371000-34376400	Weak transcription	Fetal Thymus	thymus
23	chr11:34371200-34373200	Weak transcription	Thymus	Thymus
24	chr11:34371400-34376400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr11:34371400-34376800	Weak transcription	Colon Smooth Muscle	Colon
26	chr11:34371600-34376200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:34371800-34375800	Weak transcription	Right Atrium	heart
28	chr11:34371800-34376200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr11:34371800-34376200	Weak transcription	Placenta	Placenta
30	chr11:34371800-34376200	Weak transcription	Hela-S3	cervix
31	chr11:34372000-34373800	Enhancers	A549	lung
32	chr11:34372000-34376200	Weak transcription	HSMM	muscle
33	chr11:34372000-34376200	Weak transcription	NH-A	brain
34	chr11:34372000-34377200	Weak transcription	Aorta	Aorta
35	chr11:34372200-34374800	Weak transcription	Brain Germinal Matrix	brain
36	chr11:34372200-34375600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:34372200-34375600	Weak transcription	Right Ventricle	heart
38	chr11:34372200-34375800	Weak transcription	Left Ventricle	heart
39	chr11:34372200-34376200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr11:34372400-34375600	Weak transcription	Brain Substantia Nigra	brain
41	chr11:34372600-34373000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:34372600-34373000	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr11:34372600-34373000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr11:34372800-34373600	Weak transcription	HepG2	liver
45	chr11:34372800-34374800	Weak transcription	Liver	Liver
46	chr11:34372800-34376400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr11:34373000-34374200	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr11:34373000-34374400	Flanking Active TSS	GM12878-XiMat	blood
49	chr11:34373000-34375200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr11:34373000-34376200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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