Variant report

Variant	esv2337133
Chromosome Location	chr2:55183202-55183640
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55181556..55184216-chr2:55338582..55340390,2	K562	blood:
2	chr2:55183331..55185244-chr2:55275914..55277791,2	MCF-7	breast:
3	chr2:55183507..55185896-chr2:55194020..55195726,2	MCF-7	breast:
4	chr2:55164082..55167109-chr2:55181433..55184478,3	K562	blood:
5	chr2:55182667..55184271-chr2:55275610..55277952,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214595	chromatin interactions
ENSG00000115310	chromatin interactions

Extended variants
information (count: 34 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529303980	chr2:55183203-55183204	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs72910837	chr2:55183212-55183213	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs569312597	chr2:55183261-55183262	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs11696046	chr2:55183266-55183267	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs551549688	chr2:55183292-55183293	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs192955675	chr2:55183341-55183342	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs548213452	chr2:55183342-55183343	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs148010776	chr2:55183375-55183376	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs373598183	chr2:55183418-55183419	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs567006684	chr2:55183419-55183420	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs200653007	chr2:55183420-55183421	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs375431063	chr2:55183421-55183422	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs368825359	chr2:55183423-55183424	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs373045474	chr2:55183424-55183425	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs568123627	chr2:55183427-55183428	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs184885178	chr2:55183485-55183486	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs201189783	chr2:55183496-55183497	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs554063572	chr2:55183510-55183511	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs530539016	chr2:55183527-55183528	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs199578088	chr2:55183535-55183536	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs202068291	chr2:55183536-55183537	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs66713136	chr2:55183537-55183538	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs55892067	chr2:55183538-55183539	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs200600879	chr2:55183539-55183540	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs56017448	chr2:55183540-55183541	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs397829405	chr2:55183541-55183542	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs398104321	chr2:55183543-55183544	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs375925403	chr2:55183544-55183545	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs114563851	chr2:55183554-55183555	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs551128428	chr2:55183590-55183591	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs188202184	chr2:55183602-55183603	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs115665208	chr2:55183606-55183607	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs7584992	chr2:55183627-55183628	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs558738838	chr2:55183629-55183630	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	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
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55168800-55193400	Weak transcription	Primary B cells from peripheral blood	blood
2	chr2:55170400-55190400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:55173000-55193400	Weak transcription	Aorta	Aorta
4	chr2:55173200-55187000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr2:55173200-55203400	Weak transcription	Gastric	stomach
6	chr2:55173400-55184600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:55173600-55194000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:55173600-55195000	Weak transcription	Pancreas	Pancrea
9	chr2:55174800-55194000	Weak transcription	Brain Germinal Matrix	brain
10	chr2:55175400-55193200	Weak transcription	Fetal Brain Female	brain
11	chr2:55175600-55185600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:55175600-55185800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:55175600-55185800	Weak transcription	Brain Substantia Nigra	brain
14	chr2:55175600-55194600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:55175800-55184600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:55175800-55193800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:55176400-55184600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:55177800-55193800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:55178200-55193400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:55178600-55193400	Weak transcription	Spleen	Spleen
21	chr2:55178800-55183800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:55180400-55189600	Weak transcription	HSMMtube	muscle
23	chr2:55180600-55191600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:55180600-55193600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:55180600-55195400	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr2:55180600-55196000	Weak transcription	NH-A	brain
27	chr2:55180800-55191200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:55181400-55184600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:55181600-55193600	Weak transcription	Lung	lung
30	chr2:55181600-55203400	Weak transcription	Ovary	ovary
31	chr2:55182000-55183400	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr2:55182000-55183800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:55182000-55184000	Enhancers	Fetal Intestine Large	intestine
34	chr2:55182200-55184000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:55182200-55184600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:55182200-55185600	Weak transcription	Brain Hippocampus Middle	brain
37	chr2:55182400-55183800	Flanking Active TSS	K562	blood
38	chr2:55182400-55186600	Enhancers	Fetal Muscle Leg	muscle
39	chr2:55182600-55183800	Enhancers	A549	lung
40	chr2:55182600-55183800	Enhancers	HepG2	liver
41	chr2:55182600-55184000	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr2:55182800-55183400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:55182800-55183600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:55182800-55183800	Enhancers	Primary hematopoietic stem cells	blood
45	chr2:55182800-55184000	Enhancers	Fetal Intestine Small	intestine
46	chr2:55182800-55185800	Weak transcription	Brain Anterior Caudate	brain
47	chr2:55183000-55184400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:55183000-55184400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr2:55183000-55185000	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr2:55183000-55191600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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