Variant report

Variant	esv3381576
Chromosome Location	chr11:33379731-33408617
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:33392077..33394205-chr11:33397342..33400084,3	K562	blood:
2	chr11:33151982..33154507-chr11:33378792..33381624,2	K562	blood:
3	chr11:33380757..33382861-chr11:33395684..33398398,2	MCF-7	breast:
4	chr11:33375467..33377991-chr11:33379064..33381208,2	MCF-7	breast:
5	chr11:33377235..33380179-chr11:33384228..33387621,3	K562	blood:
6	chr11:33391648..33394205-chr11:33396367..33400084,3	K562	blood:
7	chr11:33179272..33181255-chr11:33382560..33384208,2	K562	blood:
8	chr11:33396319..33398155-chr11:33401081..33403706,2	MCF-7	breast:
9	chr11:33404576..33406306-chr11:33408202..33410856,2	MCF-7	breast:
10	chr11:32982327..32984023-chr11:33390393..33392493,2	K562	blood:
11	chr11:33403805..33405903-chr11:33414463..33417062,2	MCF-7	breast:
12	chr11:33351340..33351943-chr11:33383658..33384527,2	K562	blood:
13	chr11:33187508..33188019-chr11:33392733..33393351,2	MCF-7	breast:
14	chr11:33391648..33394205-chr11:33396367..33400084,3	K562	blood:
15	chr11:33383304..33384229-chr11:33708679..33709748,3	MCF-7	breast:
16	chr11:33396319..33398155-chr11:33401081..33403706,2	MCF-7	breast:
17	chr11:33380757..33382861-chr11:33395684..33398398,2	MCF-7	breast:
18	chr11:33399022..33400859-chr11:33402110..33404984,2	K562	blood:
19	chr11:33395838..33399105-chr11:33400150..33402846,3	MCF-7	breast:
20	chr11:33383578..33384538-chr11:33708929..33709708,5	K562	blood:
21	chr11:33392077..33394205-chr11:33397342..33400084,3	K562	blood:
22	chr11:33395838..33399105-chr11:33400150..33402846,3	MCF-7	breast:
23	chr11:33372537..33375934-chr11:33378619..33381344,3	MCF-7	breast:
24	chr11:33377235..33380179-chr11:33384228..33387621,3	K562	blood:
25	chr11:33384382..33386417-chr11:33393888..33396516,2	K562	blood:
26	chr11:33382588..33385319-chr11:33707872..33709435,2	MCF-7	breast:
27	chr11:33384382..33386417-chr11:33393888..33396516,2	K562	blood:
28	chr11:33399022..33400859-chr11:33402110..33404984,2	K562	blood:
29	chr11:33404576..33406306-chr11:33408202..33410856,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000223134	chromatin interactions

Extended variants
information (count: 1036 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1036 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577377412	chr11:33379733-33379734	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs149453213	chr11:33379734-33379735	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs189756095	chr11:33379773-33379774	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs558254892	chr11:33379827-33379828	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs571833440	chr11:33380018-33380019	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs540605876	chr11:33380043-33380044	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs560587627	chr11:33380058-33380059	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs200555033	chr11:33380073-33380074	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs182415599	chr11:33380089-33380090	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs548936947	chr11:33380106-33380107	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs565948647	chr11:33380122-33380123	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs539703989	chr11:33380142-33380143	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs543356148	chr11:33380181-33380182	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs563457779	chr11:33380199-33380200	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs532224091	chr11:33380250-33380251	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs186319322	chr11:33380259-33380260	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs191112561	chr11:33380263-33380264	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs375394982	chr11:33380264-33380265	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs528636291	chr11:33380287-33380288	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs548599120	chr11:33380290-33380291	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs568466643	chr11:33380332-33380333	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs182854234	chr11:33380442-33380443	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs188686211	chr11:33380447-33380448	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs369639483	chr11:33380464-33380465	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs557383071	chr11:33380528-33380529	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs570993598	chr11:33380546-33380547	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs192989914	chr11:33380572-33380573	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs553188428	chr11:33380586-33380587	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs546622013	chr11:33380628-33380629	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs570061566	chr11:33380686-33380687	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs149371649	chr11:33380695-33380696	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs540776723	chr11:33380911-33380912	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs554098317	chr11:33380929-33380930	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs183275513	chr11:33380931-33380932	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs143729300	chr11:33380957-33380958	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs188100960	chr11:33380960-33380961	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs555515052	chr11:33380977-33380978	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs563457990	chr11:33380996-33380997	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs370293979	chr11:33381015-33381016	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs191224867	chr11:33381028-33381029	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs183674894	chr11:33381119-33381120	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs189218532	chr11:33381224-33381225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138468931	chr11:33381267-33381268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528547539	chr11:33381308-33381309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548709581	chr11:33381341-33381342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371863041	chr11:33381371-33381372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530830302	chr11:33381407-33381408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550978830	chr11:33381420-33381421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192512164	chr11:33381450-33381451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540168997	chr11:33381468-33381469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:749 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33357800-33380000	Weak transcription	Psoas Muscle	Psoas
2	chr11:33369600-33383800	Weak transcription	Stomach Mucosa	stomach
3	chr11:33372000-33392400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:33372200-33383600	Weak transcription	Small Intestine	intestine
5	chr11:33373800-33383600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr11:33375000-33379800	Weak transcription	Aorta	Aorta
7	chr11:33375000-33380000	Weak transcription	Gastric	stomach
8	chr11:33375200-33383600	Weak transcription	Hela-S3	cervix
9	chr11:33375200-33392600	Weak transcription	Pancreas	Pancrea
10	chr11:33375400-33380000	Weak transcription	Right Ventricle	heart
11	chr11:33375400-33383600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:33375400-33383800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr11:33375400-33383800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr11:33375600-33380000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:33375600-33380000	Weak transcription	Fetal Heart	heart
16	chr11:33375600-33380600	Weak transcription	NHEK	skin
17	chr11:33375600-33381000	Weak transcription	Left Ventricle	heart
18	chr11:33375600-33381800	Weak transcription	Esophagus	oesophagus
19	chr11:33375600-33383600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr11:33375600-33383800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr11:33375600-33383800	Weak transcription	Thymus	Thymus
22	chr11:33375800-33383600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr11:33375800-33383800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr11:33375800-33383800	Weak transcription	Brain Anterior Caudate	brain
25	chr11:33375800-33383800	Weak transcription	Colon Smooth Muscle	Colon
26	chr11:33375800-33383800	Weak transcription	Fetal Thymus	thymus
27	chr11:33375800-33388400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:33376000-33379800	Weak transcription	Brain Angular Gyrus	brain
29	chr11:33376000-33380000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr11:33376000-33380200	Weak transcription	Primary B cells from peripheral blood	blood
31	chr11:33376000-33381000	Weak transcription	Primary B cells from cord blood	blood
32	chr11:33376000-33381200	Weak transcription	Fetal Intestine Large	intestine
33	chr11:33376000-33381400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr11:33376000-33381600	Weak transcription	Fetal Lung	lung
35	chr11:33376000-33381800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr11:33376000-33383600	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr11:33376000-33383600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr11:33376000-33383600	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr11:33376000-33383600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr11:33376000-33383600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr11:33376000-33383600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:33376000-33383600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:33376000-33383600	Weak transcription	HMEC	breast
44	chr11:33376000-33383800	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr11:33376200-33380000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr11:33376200-33380600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:33376200-33383600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:33376200-33383600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr11:33376200-33383600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr11:33376200-33383800	Weak transcription	Rectal Smooth Muscle	rectum

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