Variant report

Variant	esv3359146
Chromosome Location	chr11:35386910-35388389
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	chr11:35256103..35261501-chr11:35384186..35388588,8	MCF-7	breast:
2	chr11:35296358..35301253-chr11:35383072..35388147,10	MCF-7	breast:
3	chr11:35359115..35360850-chr11:35385171..35387976,3	MCF-7	breast:
4	chr11:35316042..35322702-chr11:35383885..35387953,7	MCF-7	breast:
5	chr11:35347909..35350349-chr11:35386183..35388809,2	MCF-7	breast:
6	chr11:35386181..35389087-chr11:35424824..35428139,4	MCF-7	breast:
7	chr11:35342676..35347000-chr11:35384036..35388623,5	MCF-7	breast:
8	chr11:35386975..35387964-chr11:35411130..35412056,2	MCF-7	breast:
9	chr11:35387183..35388149-chr11:35412087..35413038,3	MCF-7	breast:
10	chr11:35291340..35293011-chr11:35387176..35389030,2	MCF-7	breast:
11	chr11:35301697..35307899-chr11:35384037..35387970,7	MCF-7	breast:
12	chr11:35387570..35390086-chr11:35424271..35427012,2	MCF-7	breast:
13	chr11:35387150..35387754-chr11:35411229..35411733,2	MCF-7	breast:
14	chr11:35387503..35389953-chr11:35393372..35395459,2	MCF-7	breast:
15	chr11:35367320..35368822-chr11:35387386..35389201,2	MCF-7	breast:
16	chr11:35385915..35388299-chr11:35402926..35406679,3	MCF-7	breast:
17	chr11:35285135..35288083-chr11:35386749..35388761,2	MCF-7	breast:
18	chr11:35313589..35315807-chr11:35386696..35389378,2	MCF-7	breast:
19	chr11:35195238..35197148-chr11:35385944..35388591,2	MCF-7	breast:
20	chr11:35386128..35387848-chr11:35389214..35391974,2	K562	blood:
21	chr11:35387393..35390278-chr11:35400406..35402784,2	K562	blood:
22	chr11:35382673..35391138-chr11:35406916..35414742,25	MCF-7	breast:
23	chr11:35295515..35301483-chr11:35383053..35389477,19	MCF-7	breast:
24	chr11:35385110..35389283-chr11:35389686..35393364,5	MCF-7	breast:
25	chr11:35297652..35298177-chr11:35387119..35387876,2	MCF-7	breast:
26	chr11:35342453..35346425-chr11:35381907..35387258,7	MCF-7	breast:
27	chr11:35281817..35285244-chr11:35384315..35387489,3	MCF-7	breast:
28	chr11:35315251..35317672-chr11:35387334..35389699,2	MCF-7	breast:
29	chr11:35317289..35318106-chr11:35387233..35387774,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255004	chromatin interactions
ENSG00000110436	chromatin interactions

Extended variants
information (count: 65 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189735308	chr11:35386920-35386921	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs183099649	chr11:35386928-35386929	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs530917548	chr11:35387007-35387008	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs545168747	chr11:35387008-35387009	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs187277748	chr11:35387035-35387036	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs114317419	chr11:35387043-35387044	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs538845357	chr11:35387061-35387062	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs552061005	chr11:35387101-35387102	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs565847670	chr11:35387137-35387138	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs78922576	chr11:35387159-35387160	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs397773804	chr11:35387160-35387161	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs370251489	chr11:35387197-35387198	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs531277600	chr11:35387211-35387212	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs534456804	chr11:35387256-35387257	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs554235233	chr11:35387284-35387285	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs567764953	chr11:35387323-35387324	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs191734120	chr11:35387354-35387355	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs557242251	chr11:35387370-35387371	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs148151233	chr11:35387374-35387375	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs546399807	chr11:35387406-35387407	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs542949134	chr11:35387417-35387418	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs11033096	chr11:35387418-35387419	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs573369004	chr11:35387432-35387433	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs542380930	chr11:35387536-35387537	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs562158756	chr11:35387540-35387541	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs57254083	chr11:35387567-35387568	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs530927982	chr11:35387590-35387591	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs141943925	chr11:35387595-35387596	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs183570117	chr11:35387635-35387636	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs74964461	chr11:35387657-35387658	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs16927412	chr11:35387667-35387668	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs146913630	chr11:35387669-35387670	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs139312436	chr11:35387683-35387684	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs11033097	chr11:35387697-35387698	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs547885312	chr11:35387706-35387707	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs74840866	chr11:35387709-35387710	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs142709663	chr11:35387730-35387731	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs188213288	chr11:35387742-35387743	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs191932303	chr11:35387748-35387749	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs570403886	chr11:35387766-35387767	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs539778059	chr11:35387776-35387777	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs553619252	chr11:35387822-35387823	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs573402504	chr11:35387832-35387833	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs542393102	chr11:35387833-35387834	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs1570225	chr11:35387843-35387844	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs11033098	chr11:35387874-35387875	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs182682603	chr11:35387913-35387914	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs564359647	chr11:35387934-35387935	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs533353855	chr11:35387946-35387947	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs369868082	chr11:35387947-35387948	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	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
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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35383000-35387600	Enhancers	Pancreas	Pancrea
2	chr11:35383400-35387000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:35383800-35388200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:35384400-35387000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr11:35384400-35387000	Enhancers	Brain Cingulate Gyrus	brain
6	chr11:35384800-35389800	Enhancers	Osteobl	bone
7	chr11:35385200-35387000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr11:35385400-35388000	Enhancers	Brain Anterior Caudate	brain
9	chr11:35385600-35387000	Enhancers	NHDF-Ad	bronchial
10	chr11:35385600-35388200	Enhancers	Lung	lung
11	chr11:35385600-35388200	Weak transcription	Right Ventricle	heart
12	chr11:35385600-35388800	Weak transcription	Aorta	Aorta
13	chr11:35385800-35387200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:35385800-35388200	Weak transcription	Right Atrium	heart
15	chr11:35385800-35388400	Enhancers	Stomach Smooth Muscle	stomach
16	chr11:35385800-35390200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr11:35385800-35394600	Weak transcription	Left Ventricle	heart
18	chr11:35385800-35394600	Weak transcription	Psoas Muscle	Psoas
19	chr11:35386000-35388800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:35386000-35390200	Weak transcription	Brain Angular Gyrus	brain
21	chr11:35386200-35387000	Enhancers	Brain Substantia Nigra	brain
22	chr11:35386200-35387200	Weak transcription	HepG2	liver
23	chr11:35386200-35388600	Weak transcription	Fetal Heart	heart
24	chr11:35386200-35390800	Weak transcription	Fetal Brain Male	brain
25	chr11:35386400-35387000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:35386400-35387000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr11:35386400-35387000	Enhancers	A549	lung
28	chr11:35386400-35388400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:35386400-35388600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr11:35386400-35398600	Weak transcription	Fetal Brain Female	brain
31	chr11:35386600-35387200	Enhancers	Hela-S3	cervix
32	chr11:35386600-35387400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:35386600-35387600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
34	chr11:35386600-35388000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr11:35386600-35388400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr11:35386600-35388800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr11:35386600-35389000	Weak transcription	NH-A	brain
38	chr11:35386800-35387000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:35386800-35387200	Weak transcription	Brain Hippocampus Middle	brain
40	chr11:35386800-35387800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr11:35386800-35388600	Weak transcription	HSMMtube	muscle
42	chr11:35386800-35388600	Weak transcription	NHLF	lung
43	chr11:35386800-35388800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr11:35387000-35387200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:35387000-35387600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:35387000-35387800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:35387000-35388600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:35387000-35388600	Weak transcription	NHDF-Ad	bronchial
49	chr11:35387000-35389800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr11:35387000-35390200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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