Variant report

Variant	esv3330992
Chromosome Location	chr2:47007800-47007996
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46872190..46873901-chr2:47005919..47008590,2	K562	blood:
2	chr2:47005678..47008315-chr2:47011541..47013639,2	MCF-7	breast:
3	chr2:47006608..47009505-chr2:47024005..47026288,2	K562	blood:
4	chr2:46881672..46884638-chr2:47005149..47007963,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531110872	chr2:47007911-47007912	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs549363210	chr2:47007914-47007915	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs572315996	chr2:47007920-47007921	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs28610869	chr2:47007952-47007953	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs73926585	chr2:47007968-47007969	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs532093276	chr2:47007983-47007984	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs547442843	chr2:47007992-47007993	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs543030518	chr2:47007996-47007997	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
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
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
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	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Myelofibrosis	22110671	CNVD
Hypotonia	17579669	CNVD
Hypotonia-Cystinuria syndrome	16385448	CNVD
Glioblastoma multiforme	17002787	CNVD
Cystinuria	17625506	CNVD
Breast cancer	16272173	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46985600-47008200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:47001000-47008600	Enhancers	Osteobl	bone
3	chr2:47005000-47008600	Enhancers	HepG2	liver
4	chr2:47005200-47009400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:47005200-47010000	Enhancers	Fetal Lung	lung
6	chr2:47005400-47009200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:47005400-47009200	Enhancers	NHLF	lung
8	chr2:47005400-47009400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:47005400-47012400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:47005600-47008200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:47005600-47008200	Enhancers	HMEC	breast
12	chr2:47005600-47009400	Enhancers	Fetal Heart	heart
13	chr2:47005600-47009400	Enhancers	NHDF-Ad	bronchial
14	chr2:47005600-47010000	Enhancers	Left Ventricle	heart
15	chr2:47005800-47008200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:47005800-47008200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:47005800-47008400	Enhancers	NH-A	brain
18	chr2:47005800-47009000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:47005800-47009200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:47005800-47009800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr2:47006000-47007800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:47006000-47008200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:47006000-47008400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:47006200-47008600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:47006400-47008400	Enhancers	Brain Cingulate Gyrus	brain
26	chr2:47006400-47009000	Enhancers	Stomach Mucosa	stomach
27	chr2:47006400-47009800	Enhancers	Fetal Stomach	stomach
28	chr2:47006400-47009800	Enhancers	Right Ventricle	heart
29	chr2:47006600-47008000	Enhancers	Colon Smooth Muscle	Colon
30	chr2:47006600-47009200	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr2:47006600-47009200	Enhancers	Fetal Muscle Trunk	muscle
32	chr2:47006600-47009400	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr2:47006600-47009800	Enhancers	Fetal Muscle Leg	muscle
34	chr2:47006600-47009800	Enhancers	Lung	lung
35	chr2:47006600-47009800	Enhancers	Right Atrium	heart
36	chr2:47006800-47009400	Enhancers	Adipose Nuclei	Adipose
37	chr2:47006800-47009400	Enhancers	Placenta	Placenta
38	chr2:47006800-47009800	Enhancers	Spleen	Spleen
39	chr2:47006800-47010000	Enhancers	Psoas Muscle	Psoas
40	chr2:47006800-47010000	Enhancers	Rectal Smooth Muscle	rectum
41	chr2:47007000-47008200	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr2:47007000-47009600	Enhancers	Ovary	ovary
43	chr2:47007000-47009600	Weak transcription	Pancreas	Pancrea
44	chr2:47007200-47008400	Enhancers	Aorta	Aorta
45	chr2:47007200-47008400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
46	chr2:47007200-47008800	Enhancers	Brain Hippocampus Middle	brain
47	chr2:47007200-47009000	Enhancers	Brain Substantia Nigra	brain
48	chr2:47007400-47007800	Weak transcription	A549	lung
49	chr2:47007400-47008000	Weak transcription	Brain Angular Gyrus	brain
50	chr2:47007400-47008000	Enhancers	NHEK	skin

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