Variant report

Variant	nsv517737
Chromosome Location	chr2:33664350-33676440
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:9)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:33660258..33662233-chr2:33665386..33666993,2	K562	blood:
2	chr2:33662537..33665066-chr2:33668209..33670652,2	K562	blood:
3	chr2:33638138..33638651-chr2:33665997..33666555,2	MCF-7	breast:
4	chr2:33665492..33668355-chr2:33669138..33671096,3	K562	blood:
5	chr2:33665492..33668355-chr2:33669138..33671096,3	K562	blood:
6	chr2:33669708..33670407-chr3:131810762..131811621,2	MCF-7	breast:
7	chr2:33662537..33665066-chr2:33668209..33670652,2	K562	blood:
8	chr2:33259626..33260439-chr2:33665962..33666763,2	MCF-7	breast:
9	chr2:33660258..33665066-chr2:33665386..33670652,5	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LTBP1-1	chr2:33672887-33673010	NONHSAT070011
2	lnc-LTBP1-1	chr2:33672887-33673010	NONHSAT070012

No data

Variant related genes	Relation type
ENSG00000152689	chromatin interactions

Extended variants
information (count: 502 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:502 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs604788	chr2:33664350-33664351	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192837565	chr2:33664351-33664352	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs560419856	chr2:33664369-33664370	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs115157594	chr2:33664378-33664379	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs549339042	chr2:33664381-33664382	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs569416583	chr2:33664390-33664391	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs184781012	chr2:33664415-33664416	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs567812220	chr2:33664433-33664434	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs189153842	chr2:33664474-33664475	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs180883264	chr2:33664475-33664476	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs144928705	chr2:33664560-33664561	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs185244133	chr2:33664568-33664569	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs567297431	chr2:33664582-33664583	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs147533981	chr2:33664611-33664612	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs189171277	chr2:33664646-33664647	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs576204431	chr2:33664658-33664659	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs545198313	chr2:33664697-33664698	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs558897973	chr2:33664710-33664711	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs181525796	chr2:33664714-33664715	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs186204420	chr2:33664786-33664787	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs139491976	chr2:33664812-33664813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529401915	chr2:33664860-33664861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543122387	chr2:33664895-33664896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191958868	chr2:33664920-33664921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373279045	chr2:33664938-33664939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531792377	chr2:33664939-33664940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551518854	chr2:33664944-33664945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571649006	chr2:33664956-33664957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553475326	chr2:33664962-33664963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6759329	chr2:33664976-33664977	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs79838523	chr2:33664993-33664994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371105236	chr2:33665020-33665021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs646374	chr2:33665030-33665031	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs372447636	chr2:33665046-33665047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77003756	chr2:33665047-33665048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182854348	chr2:33665049-33665050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550413738	chr2:33665066-33665067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541634729	chr2:33665068-33665069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569724912	chr2:33665109-33665110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs367748943	chr2:33665153-33665154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538873846	chr2:33665174-33665175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558765282	chr2:33665178-33665179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572418888	chr2:33665272-33665273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541324438	chr2:33665300-33665301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539311401	chr2:33665301-33665302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs58489442	chr2:33665304-33665305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554528752	chr2:33665325-33665326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs61296148	chr2:33665348-33665349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115841183	chr2:33665390-33665391	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs537631182	chr2:33665397-33665398	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Pancreatic cancer	17952125	CNVD
Autism	22495309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33645200-33667800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:33659400-33667400	Weak transcription	Brain Hippocampus Middle	brain
3	chr2:33660600-33665600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:33661200-33664600	Active TSS	Adipose Nuclei	Adipose
5	chr2:33661200-33665200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:33661400-33664400	Active TSS	Right Atrium	heart
7	chr2:33661400-33664800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
8	chr2:33661800-33667600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:33662600-33664400	Weak transcription	Fetal Heart	heart
10	chr2:33662600-33664400	Active TSS	Left Ventricle	heart
11	chr2:33662600-33665000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:33662800-33665000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:33662800-33667200	Weak transcription	Psoas Muscle	Psoas
14	chr2:33662800-33670200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:33663000-33664400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr2:33663200-33664600	Enhancers	NHDF-Ad	bronchial
17	chr2:33663200-33667400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:33663200-33667400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:33663200-33667800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:33663200-33667800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr2:33663200-33668200	Weak transcription	Osteobl	bone
22	chr2:33663200-33671400	Weak transcription	Right Ventricle	heart
23	chr2:33663400-33664800	Enhancers	Lung	lung
24	chr2:33663400-33665600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:33663400-33667600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:33663400-33667600	Weak transcription	HUVEC	blood vessel
27	chr2:33663600-33670200	Weak transcription	Fetal Muscle Leg	muscle
28	chr2:33663800-33665600	Enhancers	K562	blood
29	chr2:33664000-33664400	Enhancers	NHLF	lung
30	chr2:33664200-33667600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:33664400-33664600	Flanking Active TSS	Left Ventricle	heart
32	chr2:33664400-33664800	Enhancers	Right Atrium	heart
33	chr2:33664400-33665000	Enhancers	Fetal Muscle Trunk	muscle
34	chr2:33664400-33665200	Enhancers	Fetal Heart	heart
35	chr2:33664600-33665000	Enhancers	Left Ventricle	heart
36	chr2:33664600-33667600	Weak transcription	NHDF-Ad	bronchial
37	chr2:33664600-33668000	Weak transcription	Adipose Nuclei	Adipose
38	chr2:33664800-33666000	Weak transcription	Right Atrium	heart
39	chr2:33665000-33665200	Enhancers	HSMM	muscle
40	chr2:33665000-33667000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr2:33665000-33668800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:33665000-33669000	Weak transcription	Left Ventricle	heart
43	chr2:33665000-33670000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:33665200-33667800	Weak transcription	Fetal Heart	heart
45	chr2:33665200-33670000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:33665600-33666000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:33665600-33667600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:33666000-33666200	Enhancers	Right Atrium	heart
49	chr2:33666000-33668800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:33666600-33668600	Enhancers	Brain Substantia Nigra	brain

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