Variant report

Variant	esv19797
Chromosome Location	chr11:33048624-33055726
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:33043183..33045594-chr11:33046266..33049632,4	K562	blood:
2	chr11:33043473..33045913-chr11:33047452..33049632,3	K562	blood:
3	chr11:33033569..33035626-chr11:33052548..33054662,2	K562	blood:
4	chr11:33040431..33043314-chr11:33047289..33049543,3	K562	blood:
5	chr11:33049785..33058354-chr11:33058756..33063053,11	K562	blood:
6	chr11:33044055..33046027-chr11:33049637..33052568,2	MCF-7	breast:
7	chr11:33038166..33041060-chr11:33046643..33049387,2	MCF-7	breast:
8	chr11:33041861..33044073-chr11:33051404..33053946,2	K562	blood:
9	chr11:33037810..33039404-chr11:33046604..33049179,2	K562	blood:
10	chr11:33047529..33049150-chr11:33058361..33061018,2	MCF-7	breast:
11	chr11:33049034..33053308-chr11:33058288..33062133,5	K562	blood:
12	chr11:33050169..33051693-chr11:33062523..33065107,2	MCF-7	breast:
13	chr11:32913485..32915612-chr11:33052114..33054886,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000176148	chromatin interactions
ENSG00000060749	chromatin interactions

Extended variants
information (count: 289 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:289 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554543270	chr11:33048629-33048630	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs574808203	chr11:33048651-33048652	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs543464229	chr11:33048678-33048679	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs556890942	chr11:33048714-33048715	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs576947990	chr11:33048721-33048722	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs141728920	chr11:33048759-33048760	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs10836004	chr11:33048786-33048787	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs528655618	chr11:33048790-33048791	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs10742290	chr11:33048833-33048834	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs562234302	chr11:33048879-33048880	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs192667957	chr11:33048894-33048895	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs184281522	chr11:33048909-33048910	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs11032094	chr11:33048927-33048928	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs111267984	chr11:33048946-33048947	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs72901291	chr11:33048991-33048992	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs564187289	chr11:33048992-33048993	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs532258396	chr11:33049013-33049014	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs1884925	chr11:33049036-33049037	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs3818227	chr11:33049115-33049116	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs201993934	chr11:33049147-33049148	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs139896462	chr11:33049150-33049151	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs368676405	chr11:33049151-33049152	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs146250668	chr11:33049177-33049178	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs367673447	chr11:33049217-33049218	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs576262565	chr11:33049233-33049234	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs367903882	chr11:33049259-33049260	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs200200424	chr11:33049299-33049300	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs17852860	chr11:33049313-33049314	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs200498367	chr11:33049318-33049319	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs34161108	chr11:33049341-33049342	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs375098138	chr11:33049377-33049378	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs556952265	chr11:33049403-33049404	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs188182777	chr11:33049424-33049425	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs138084167	chr11:33049465-33049466	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs376753284	chr11:33049470-33049471	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs565750829	chr11:33049493-33049494	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs34584868	chr11:33049550-33049551	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs149546704	chr11:33049595-33049596	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs180932550	chr11:33049602-33049603	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs184760802	chr11:33049638-33049639	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs562260914	chr11:33049714-33049715	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs189480624	chr11:33049767-33049768	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs568915210	chr11:33049769-33049770	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs3802788	chr11:33049784-33049785	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs3802789	chr11:33049814-33049815	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs182558997	chr11:33049947-33049948	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs552344071	chr11:33049969-33049970	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs559195708	chr11:33049993-33049994	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs537889266	chr11:33050002-33050003	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs3802790	chr11:33050100-33050101	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33038200-33060200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:33038800-33049800	Weak transcription	HMEC	breast
3	chr11:33039200-33053800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:33039200-33060200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr11:33039400-33049800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:33039400-33050000	Weak transcription	Brain Angular Gyrus	brain
7	chr11:33039400-33060400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:33039600-33060400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:33040800-33049400	Weak transcription	Psoas Muscle	Psoas
10	chr11:33040800-33060200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr11:33040800-33060400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr11:33041000-33052400	Weak transcription	Fetal Muscle Leg	muscle
13	chr11:33041400-33060200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr11:33043400-33049600	Weak transcription	HSMMtube	muscle
15	chr11:33043400-33049800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:33043600-33060200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:33043800-33049600	Weak transcription	Fetal Lung	lung
18	chr11:33043800-33052400	Weak transcription	Hela-S3	cervix
19	chr11:33043800-33056600	Weak transcription	A549	lung
20	chr11:33044000-33049600	Weak transcription	HepG2	liver
21	chr11:33044400-33050000	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr11:33044400-33056800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr11:33045200-33056800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr11:33045200-33060600	Weak transcription	Small Intestine	intestine
25	chr11:33045800-33058400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr11:33046000-33057000	Strong transcription	HSMM	muscle
27	chr11:33046800-33049600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr11:33046800-33050200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:33046800-33051000	Weak transcription	Ovary	ovary
30	chr11:33046800-33054000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:33047000-33048800	Weak transcription	Fetal Intestine Small	intestine
32	chr11:33047000-33049600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:33047000-33060400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr11:33047000-33060600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr11:33047200-33049600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr11:33047400-33048800	Strong transcription	Fetal Muscle Trunk	muscle
37	chr11:33048000-33049400	Genic enhancers	Liver	Liver
38	chr11:33048200-33049000	Strong transcription	Fetal Intestine Large	intestine
39	chr11:33048200-33049000	Enhancers	Placenta Amnion	Placenta Amnion
40	chr11:33048200-33050000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:33048200-33050000	Weak transcription	Brain Substantia Nigra	brain
42	chr11:33048200-33050800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:33048200-33052400	Weak transcription	K562	blood
44	chr11:33048400-33049000	Enhancers	NHDF-Ad	bronchial
45	chr11:33048400-33049000	Enhancers	NHEK	skin
46	chr11:33048400-33049400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:33048400-33050400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:33048600-33048800	Genic enhancers	Muscle Satellite Cultured Cells	--
49	chr11:33048600-33048800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:33048600-33048800	Enhancers	NHLF	lung

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