Variant report

Variant	esv3459075
Chromosome Location	chr11:32608689-32610140
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:32608029-32608916	A549	lung:	n/a	n/a
2	EP300	chr11:32609099-32609220	GM12878	blood:	n/a	n/a
3	GATA3	chr11:32608525-32608725	SH-SY5Y	brain:	n/a	n/a
4	JUND	chr11:32608199-32608725	K562	blood:	n/a	chr11:32608468-32608480
5	POLR2A	chr11:32607902-32609333	K562	blood:	n/a	n/a
6	POLR2A	chr11:32608955-32609390	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr11:32610010-32610620	HepG2	liver:	n/a	n/a
8	POLR2A	chr11:32610078-32610758	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:32610093-32610656	HepG2	liver:	n/a	n/a
10	POLR2A	chr11:32610056-32610686	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:32608004-32608708	HepG2	liver:	n/a	n/a
12	POLR2A	chr11:32609986-32610746	K562	blood:	n/a	n/a
13	POLR2A	chr11:32610031-32610703	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr11:32610041-32610206	H1-hESC	embryonic stem cell:	n/a	n/a
15	RCOR1	chr11:32608238-32608733	K562	blood:	n/a	n/a
16	RCOR1	chr11:32608197-32608733	K562	blood:	n/a	n/a
17	STAT3	chr11:32609274-32609409	MCF10A-Er-Src	breast:	n/a	n/a
18	STAT3	chr11:32608852-32608914	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:32551423..32553117-chr11:32607270..32609512,2	MCF-7	breast:
2	chr11:32440943..32443516-chr11:32607260..32609866,2	K562	blood:
3	chr11:32605376..32607127-chr11:32609129..32611535,2	MCF-7	breast:
4	chr11:32455462..32457058-chr11:32608687..32611459,2	K562	blood:
5	chr11:32455134..32460391-chr11:32603988..32611641,10	K562	blood:
6	chr11:32602922..32605619-chr11:32607155..32608879,2	K562	blood:

No data

Variant related genes	Relation type
EIF3M	TF binding region
ENSG00000183242	chromatin interactions
ENSG00000149100	chromatin interactions
ENSG00000184937	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571882510	chr11:32608691-32608692	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs527993100	chr11:32608693-32608694	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs546561462	chr11:32608704-32608705	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs140651663	chr11:32608705-32608706	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs374063734	chr11:32608713-32608714	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs145830653	chr11:32608714-32608715	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs555459747	chr11:32608845-32608846	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs562856947	chr11:32608858-32608859	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs568977261	chr11:32608871-32608872	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs138457839	chr11:32608872-32608873	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs566792999	chr11:32608918-32608919	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs142021509	chr11:32608954-32608955	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs150497849	chr11:32608958-32608959	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs540183710	chr11:32608967-32608968	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs553745005	chr11:32609071-32609072	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs118085305	chr11:32609106-32609107	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs542623174	chr11:32609111-32609112	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs558683888	chr11:32609247-32609248	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs201880	chr11:32609254-32609255	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs58713017	chr11:32609327-32609328	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs186528813	chr11:32609341-32609342	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs557745504	chr11:32609377-32609378	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs565373749	chr11:32609385-32609386	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs190971820	chr11:32609397-32609398	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs201879	chr11:32609403-32609404	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs112516085	chr11:32609409-32609410	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs181044877	chr11:32609454-32609455	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs201878	chr11:32609507-32609508	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs7941001	chr11:32609523-32609524	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs114672152	chr11:32609548-32609549	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs537575006	chr11:32609554-32609555	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs144494720	chr11:32609576-32609577	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs551529922	chr11:32609578-32609579	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs571397392	chr11:32609607-32609608	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs534087282	chr11:32609631-32609632	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs553611660	chr11:32609702-32609703	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs573603752	chr11:32609724-32609725	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs536220764	chr11:32609734-32609735	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs556154576	chr11:32609735-32609736	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs576466650	chr11:32609763-32609764	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs138963806	chr11:32609768-32609769	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs139589869	chr11:32609784-32609785	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs112627066	chr11:32609792-32609793	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs572505510	chr11:32609795-32609796	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs572329372	chr11:32609796-32609797	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs190605041	chr11:32609798-32609799	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs183313531	chr11:32609802-32609803	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs370317098	chr11:32609804-32609805	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs186874522	chr11:32609824-32609825	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs531429913	chr11:32609840-32609841	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	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
Breast cancer	21364760	CNVD
Glioblastoma multiforme	22286061	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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:196 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32606400-32609000	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr11:32606800-32609600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr11:32606800-32610000	Weak transcription	Placenta	Placenta
4	chr11:32606800-32610200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:32606800-32610200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr11:32606800-32610200	Weak transcription	Lung	lung
7	chr11:32606800-32610400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:32606800-32611000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr11:32606800-32611400	Weak transcription	Esophagus	oesophagus
10	chr11:32606800-32611400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr11:32606800-32611400	Weak transcription	Stomach Mucosa	stomach
12	chr11:32606800-32613400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:32606800-32613400	Weak transcription	Aorta	Aorta
14	chr11:32606800-32616000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:32607000-32609400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:32607000-32609800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr11:32607000-32610000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr11:32607000-32610000	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr11:32607000-32610200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:32607000-32610200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr11:32607000-32610200	Weak transcription	HSMMtube	muscle
22	chr11:32607000-32610400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:32607000-32610400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr11:32607000-32611400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr11:32607000-32617000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr11:32607200-32609000	Enhancers	HepG2	liver
27	chr11:32607200-32609200	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr11:32607200-32609400	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr11:32607200-32609600	Weak transcription	Fetal Intestine Small	intestine
30	chr11:32607200-32609600	Weak transcription	Fetal Stomach	stomach
31	chr11:32607200-32609800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:32607200-32610000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr11:32607200-32610000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:32607200-32610000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:32607200-32610000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr11:32607200-32610200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr11:32607200-32610200	Weak transcription	Primary B cells from peripheral blood	blood
38	chr11:32607200-32610200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr11:32607200-32610200	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr11:32607200-32610200	Weak transcription	Fetal Brain Female	brain
41	chr11:32607200-32610200	Weak transcription	Fetal Lung	lung
42	chr11:32607200-32610200	Weak transcription	Fetal Muscle Leg	muscle
43	chr11:32607200-32610200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr11:32607200-32610200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr11:32607200-32610200	Weak transcription	Thymus	Thymus
46	chr11:32607200-32610400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr11:32607200-32610800	Weak transcription	Brain Substantia Nigra	brain
48	chr11:32607200-32612000	Weak transcription	Brain Angular Gyrus	brain
49	chr11:32607400-32608800	Weak transcription	Fetal Kidney	kidney
50	chr11:32607400-32609200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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