Variant report

Variant	esv3361059
Chromosome Location	chr2:47296321-47296770
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47271650..47273427-chr2:47295265..47298001,2	MCF-7	breast:
2	chr2:47295441..47298329-chr2:47298635..47300784,3	MCF-7	breast:
3	chr2:47292753..47295040-chr2:47295086..47296982,3	MCF-7	breast:
4	chr2:47295023..47298657-chr2:47300855..47310213,9	MCF-7	breast:
5	chr2:47295079..47297888-chr2:47402697..47404498,3	K562	blood:

Variant related genes	Relation type
ENSG00000225187	chromatin interactions
ENSG00000143933	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533866206	chr2:47296341-47296342	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs555310729	chr2:47296345-47296346	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs143434899	chr2:47296379-47296380	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs736148	chr2:47296381-47296382	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs736147	chr2:47296384-47296385	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs193198373	chr2:47296388-47296389	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs185076714	chr2:47296422-47296423	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs560655272	chr2:47296443-47296444	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs572475343	chr2:47296451-47296452	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs573556419	chr2:47296469-47296470	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs561362038	chr2:47296540-47296541	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs559337573	chr2:47296542-47296543	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs375103304	chr2:47296552-47296553	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs111239884	chr2:47296689-47296690	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs550072027	chr2:47296694-47296695	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs529243029	chr2:47296720-47296721	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs2692221	chr2:47296745-47296746	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:66)

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

Chromatin state (count:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47230200-47302800	Strong transcription	Dnd41	blood
2	chr2:47270800-47296600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:47284400-47296400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:47284400-47296400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:47284600-47298400	Strong transcription	Thymus	Thymus
6	chr2:47286800-47296600	Strong transcription	Fetal Thymus	thymus
7	chr2:47287800-47296600	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr2:47288000-47300400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:47288400-47296400	Enhancers	Fetal Heart	heart
10	chr2:47290400-47299000	Genic enhancers	Fetal Muscle Leg	muscle
11	chr2:47290600-47296400	Genic enhancers	A549	lung
12	chr2:47290800-47297800	Genic enhancers	Primary monocytes fromperipheralblood	blood
13	chr2:47291400-47296600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:47291600-47300800	Weak transcription	Brain Germinal Matrix	brain
15	chr2:47291800-47296600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:47291800-47297800	Genic enhancers	Spleen	Spleen
17	chr2:47291800-47301200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr2:47292000-47296600	Weak transcription	GM12878-XiMat	blood
19	chr2:47292000-47298800	Enhancers	Placenta	Placenta
20	chr2:47292200-47296400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr2:47292200-47298200	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr2:47292400-47296400	Enhancers	Colon Smooth Muscle	Colon
23	chr2:47292400-47299600	Enhancers	HUVEC	blood vessel
24	chr2:47292600-47302200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:47292800-47296800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr2:47292800-47300000	Enhancers	NHDF-Ad	bronchial
27	chr2:47293000-47296400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr2:47293000-47296600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:47293000-47297400	Weak transcription	Fetal Kidney	kidney
30	chr2:47293000-47300600	Enhancers	Right Ventricle	heart
31	chr2:47293000-47301400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr2:47293200-47299200	Enhancers	Liver	Liver
33	chr2:47293400-47296600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr2:47293400-47296600	Weak transcription	Aorta	Aorta
35	chr2:47293400-47296800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:47293400-47297400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:47293600-47296400	Weak transcription	Fetal Brain Male	brain
38	chr2:47293600-47296600	Genic enhancers	Primary T cells fromperipheralblood	blood
39	chr2:47293800-47296400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:47293800-47296600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr2:47293800-47296800	Weak transcription	Fetal Brain Female	brain
42	chr2:47294200-47296800	Genic enhancers	Muscle Satellite Cultured Cells	--
43	chr2:47294200-47298000	Enhancers	Pancreas	Pancrea
44	chr2:47294200-47298200	Genic enhancers	NHLF	lung
45	chr2:47294400-47296800	Enhancers	Stomach Smooth Muscle	stomach
46	chr2:47294400-47298600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr2:47294400-47301000	Enhancers	Right Atrium	heart
48	chr2:47294600-47300000	Enhancers	Brain Substantia Nigra	brain
49	chr2:47294800-47297400	Enhancers	HSMMtube	muscle
50	chr2:47294800-47297800	Enhancers	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links