Variant report

Variant	esv3361763
Chromosome Location	chr2:54826544-54826838
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54761267..54763626-chr2:54824184..54826863,2	K562	blood:
2	chr2:54785770..54787299-chr2:54826149..54827905,2	K562	blood:
3	chr2:54822696..54824811-chr2:54826177..54828033,3	K562	blood:
4	chr2:54815022..54818519-chr2:54825874..54828742,4	K562	blood:
5	chr2:54822853..54825212-chr2:54825239..54827897,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576930407	chr2:54826551-54826552	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs545884091	chr2:54826552-54826553	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs148488440	chr2:54826556-54826557	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs189096234	chr2:54826575-54826576	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs548253663	chr2:54826577-54826578	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs34361752	chr2:54826600-54826601	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs561646519	chr2:54826685-54826686	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs531269014	chr2:54826692-54826693	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs60542617	chr2:54826700-54826701	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs571028168	chr2:54826725-54826726	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs112297824	chr2:54826818-54826819	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	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
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54805400-54830200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:54816200-54830600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:54816600-54828400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:54822200-54827800	Genic enhancers	Fetal Muscle Leg	muscle
5	chr2:54822200-54828800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:54822200-54833800	Genic enhancers	HepG2	liver
7	chr2:54822400-54827600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:54822400-54827800	Enhancers	Colon Smooth Muscle	Colon
9	chr2:54822400-54833600	Enhancers	Psoas Muscle	Psoas
10	chr2:54822400-54833800	Enhancers	Stomach Mucosa	stomach
11	chr2:54822400-54834000	Enhancers	Right Atrium	heart
12	chr2:54822600-54826600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:54822600-54827000	Enhancers	K562	blood
14	chr2:54822600-54827200	Enhancers	Brain Hippocampus Middle	brain
15	chr2:54822800-54827000	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr2:54822800-54831600	Genic enhancers	A549	lung
17	chr2:54823200-54831000	Genic enhancers	Fetal Intestine Large	intestine
18	chr2:54823400-54827200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:54823800-54829400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:54824000-54827000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr2:54824000-54829400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:54824200-54826600	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr2:54824200-54827400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:54824200-54827400	Weak transcription	Fetal Kidney	kidney
25	chr2:54824200-54829600	Enhancers	Fetal Heart	heart
26	chr2:54824200-54830600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:54824200-54833600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr2:54824400-54828800	Enhancers	HMEC	breast
29	chr2:54824400-54829200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:54824600-54834400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr2:54824800-54826600	Weak transcription	Fetal Brain Female	brain
32	chr2:54824800-54829600	Genic enhancers	Primary hematopoietic stem cells	blood
33	chr2:54824800-54834400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:54824800-54839200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr2:54825000-54829200	Genic enhancers	HSMM	muscle
36	chr2:54825000-54829800	Weak transcription	Fetal Brain Male	brain
37	chr2:54825200-54827600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr2:54825200-54828400	Strong transcription	GM12878-XiMat	blood
39	chr2:54825400-54827600	Genic enhancers	Fetal Muscle Trunk	muscle
40	chr2:54825400-54827600	Genic enhancers	Sigmoid Colon	Sigmoid Colon
41	chr2:54825400-54827800	Genic enhancers	Muscle Satellite Cultured Cells	--
42	chr2:54825400-54828200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:54825400-54828800	Strong transcription	Fetal Stomach	stomach
44	chr2:54825400-54829000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr2:54825600-54826600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:54825600-54826600	Strong transcription	Fetal Intestine Small	intestine
47	chr2:54825600-54826800	Genic enhancers	Primary T cells from cord blood	blood
48	chr2:54825600-54827200	Strong transcription	Primary B cells from peripheral blood	blood
49	chr2:54825600-54827200	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr2:54825600-54827200	Genic enhancers	Stomach Smooth Muscle	stomach

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