Variant report

Variant	esv3345303
Chromosome Location	chr2:47116425-47116781
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:46691358..46692227-chr2:47115825..47116785,3	K562	blood:
2	chr2:47115779..47117339-chr2:47120476..47123215,2	K562	blood:
3	chr2:47116478..47119263-chr2:47168415..47170278,2	K562	blood:
4	chr2:46691412..46692513-chr2:47115934..47116752,3	MCF-7	breast:
5	chr2:46859576..46860085-chr2:47115905..47116595,2	MCF-7	breast:
6	chr2:47114369..47117073-chr2:47127351..47131177,3	K562	blood:
7	chr2:46877823..46878327-chr2:47115872..47116822,2	K562	blood:
8	chr2:47114899..47116611-chr2:47118256..47121288,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000180398	chromatin interactions
ENSG00000068724	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146372854	chr2:47116451-47116452	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs565934439	chr2:47116460-47116461	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs386645728	chr2:47116461-47116462	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs549928842	chr2:47116462-47116463	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs62136788	chr2:47116474-47116475	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs538883781	chr2:47116477-47116478	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs113887166	chr2:47116517-47116518	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs565926234	chr2:47116527-47116528	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs536171658	chr2:47116537-47116538	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs554921257	chr2:47116552-47116553	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs184666836	chr2:47116563-47116564	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs150025571	chr2:47116578-47116579	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs564779445	chr2:47116609-47116610	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs528831057	chr2:47116610-47116611	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs558665413	chr2:47116626-47116627	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs189129109	chr2:47116664-47116665	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs62136789	chr2:47116690-47116691	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs559527105	chr2:47116702-47116703	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs575051814	chr2:47116716-47116717	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs542188521	chr2:47116717-47116718	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs547959074	chr2:47116736-47116737	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs112826801	chr2:47116757-47116758	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47106400-47131000	Weak transcription	Esophagus	oesophagus
2	chr2:47107400-47117000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:47109400-47116600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:47109400-47125200	Weak transcription	Spleen	Spleen
5	chr2:47109800-47116600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:47112200-47116600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:47113000-47116600	Weak transcription	Right Atrium	heart
8	chr2:47113200-47116600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:47113200-47116600	Enhancers	Osteobl	bone
10	chr2:47113200-47131200	Weak transcription	Aorta	Aorta
11	chr2:47115200-47116800	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr2:47115600-47116600	Enhancers	Fetal Muscle Trunk	muscle
13	chr2:47115800-47116600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:47115800-47116600	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr2:47115800-47116600	Enhancers	Brain Substantia Nigra	brain
16	chr2:47115800-47116600	Enhancers	Fetal Muscle Leg	muscle
17	chr2:47116000-47116600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr2:47116000-47116600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:47116000-47116600	Enhancers	Duodenum Mucosa	Duodenum
20	chr2:47116000-47116600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr2:47116000-47116600	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr2:47116000-47116600	Enhancers	HUVEC	blood vessel
23	chr2:47116000-47133200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:47116200-47116600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr2:47116200-47116600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:47116200-47116600	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr2:47116200-47116600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:47116200-47116600	Enhancers	Adipose Nuclei	Adipose
29	chr2:47116200-47116600	Active TSS	Brain Angular Gyrus	brain
30	chr2:47116200-47116600	Active TSS	Brain Anterior Caudate	brain
31	chr2:47116200-47116600	Active TSS	Brain Cingulate Gyrus	brain
32	chr2:47116200-47116600	Active TSS	Brain Hippocampus Middle	brain
33	chr2:47116200-47116600	Active TSS	Placenta	Placenta
34	chr2:47116200-47116600	Enhancers	Fetal Thymus	thymus
35	chr2:47116200-47116600	Active TSS	Stomach Smooth Muscle	stomach
36	chr2:47116200-47116600	Active TSS	A549	lung
37	chr2:47116200-47116600	Active TSS	Hela-S3	cervix
38	chr2:47116200-47116600	Flanking Active TSS	HepG2	liver
39	chr2:47116200-47116600	Active TSS	NHEK	skin
40	chr2:47116200-47116800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:47116200-47119200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:47116200-47119200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:47116200-47119200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr2:47116200-47119200	Weak transcription	Left Ventricle	heart
45	chr2:47116200-47120600	Weak transcription	NHDF-Ad	bronchial
46	chr2:47116200-47121600	Weak transcription	Fetal Brain Male	brain
47	chr2:47116200-47127400	Weak transcription	Fetal Stomach	stomach
48	chr2:47116200-47128200	Weak transcription	HSMM	muscle
49	chr2:47116200-47128400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr2:47116200-47128400	Weak transcription	NH-A	brain

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