Variant report

Variant	esv3416811
Chromosome Location	chr2:47583123-47583731
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47576428..47578602-chr2:47580782..47583287,2	MCF-7	breast:
2	chr2:47580698..47583292-chr2:47629869..47631932,2	K562	blood:
3	chr2:47579713..47583526-chr2:47593065..47596290,3	MCF-7	breast:
4	chr2:47572455..47576210-chr2:47579950..47583460,6	K562	blood:
5	chr2:47572231..47576038-chr2:47579794..47584297,7	MCF-7	breast:
6	chr2:47580625..47583469-chr2:47590041..47591979,2	MCF-7	breast:
7	chr2:47400796..47403030-chr2:47579687..47583145,3	K562	blood:

Variant related genes	Relation type
ENSG00000119888	chromatin interactions
ENSG00000143933	chromatin interactions
ENSG00000095002	chromatin interactions

Extended variants
information (count: 39 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138503159	chr2:47583128-47583129	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs565619761	chr2:47583138-47583139	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs576622065	chr2:47583143-47583144	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs528463111	chr2:47583149-47583150	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs188137831	chr2:47583152-47583153	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs193140671	chr2:47583229-47583230	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs536154183	chr2:47583236-47583237	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs544138840	chr2:47583238-47583239	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs143052437	chr2:47583251-47583252	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs146141342	chr2:47583274-47583275	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs577052177	chr2:47583275-47583276	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs558341281	chr2:47583286-47583287	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs59974084	chr2:47583342-47583343	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs141506691	chr2:47583367-47583368	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs376062757	chr2:47583369-47583370	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs185723201	chr2:47583422-47583423	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs200543749	chr2:47583435-47583436	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs553816674	chr2:47583436-47583437	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs77429469	chr2:47583438-47583439	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs574141531	chr2:47583439-47583440	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs570934540	chr2:47583461-47583462	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs59837687	chr2:47583486-47583487	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs541112113	chr2:47583497-47583498	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs541710249	chr2:47583503-47583504	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs563608529	chr2:47583518-47583519	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs530571941	chr2:47583520-47583521	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs113669672	chr2:47583541-47583542	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs35918891	chr2:47583552-47583553	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs190275435	chr2:47583562-47583563	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs373999424	chr2:47583575-47583576	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs182044359	chr2:47583577-47583578	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs139297851	chr2:47583581-47583582	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs112386026	chr2:47583582-47583583	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs550948844	chr2:47583602-47583603	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs569558190	chr2:47583622-47583623	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs11688368	chr2:47583644-47583645	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs372486550	chr2:47583699-47583700	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs140650200	chr2:47583701-47583702	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs62138457	chr2:47583704-47583705	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:86)

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
Colorectal cancer	17569143	CNVD
Hereditary non-polyposis colorectal cancer	16941473	CNVD
Lynch syndrome	16541406	CNVD
Non-syndromic sensorineural hearing loss	19173287	CNVD
Hereditary non-polyposis colorectal cancer	17228328	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Lynch syndrome	20937110	CNVD
Breast cancer	20616022	CNVD
Colorectal cancer	18708397	CNVD
Endometrial cancer	18708397	CNVD
Lynch syndrome	18708397	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47574400-47584400	Weak transcription	Right Atrium	heart
2	chr2:47574800-47584200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:47575000-47586600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:47578000-47583200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:47578200-47589600	Enhancers	Fetal Intestine Small	intestine
6	chr2:47579400-47584000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:47579400-47584600	Weak transcription	Fetal Lung	lung
8	chr2:47579600-47584200	Weak transcription	Fetal Stomach	stomach
9	chr2:47580200-47589600	Enhancers	Fetal Intestine Large	intestine
10	chr2:47580600-47588400	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr2:47581000-47584800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:47581200-47584200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr2:47581400-47584400	Weak transcription	Spleen	Spleen
14	chr2:47581600-47583200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:47581600-47584200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:47581800-47584200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:47581800-47584200	Weak transcription	Small Intestine	intestine
18	chr2:47581800-47584400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr2:47581800-47584400	Weak transcription	Colonic Mucosa	Colon
20	chr2:47582000-47584000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:47582000-47584200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:47582000-47584200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:47582000-47584200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:47582200-47584200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr2:47582200-47584200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:47582400-47583200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr2:47582400-47584000	Weak transcription	Osteobl	bone
28	chr2:47582400-47584400	Weak transcription	NHLF	lung
29	chr2:47582400-47585200	Enhancers	K562	blood
30	chr2:47582400-47588200	Weak transcription	NHDF-Ad	bronchial
31	chr2:47582600-47584000	Weak transcription	HMEC	breast
32	chr2:47582600-47584200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:47582600-47584400	Weak transcription	NH-A	brain
34	chr2:47582800-47583800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:47582800-47583800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:47582800-47583800	Weak transcription	A549	lung
37	chr2:47582800-47583800	Weak transcription	HepG2	liver
38	chr2:47582800-47584200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr2:47582800-47584400	Weak transcription	NHEK	skin
40	chr2:47583000-47584000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:47583000-47584400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr2:47583000-47584400	Weak transcription	HUVEC	blood vessel
43	chr2:47583000-47586600	Weak transcription	Stomach Mucosa	stomach
44	chr2:47583200-47584200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:47583200-47585200	Enhancers	Duodenum Mucosa	Duodenum

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