Variant report

Variant	esv3332992
Chromosome Location	chr2:55361532-55361912
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55359631..55362469-chr2:55389581..55391287,2	MCF-7	breast:
2	chr2:55350017..55352674-chr2:55360663..55363208,2	K562	blood:
3	chr2:55354045..55358992-chr2:55359264..55362961,10	K562	blood:
4	chr2:55275855..55279437-chr2:55359990..55364186,7	K562	blood:
5	chr2:55272140..55279868-chr2:55356344..55371606,28	K562	blood:
6	chr2:55269242..55271326-chr2:55360631..55363213,2	K562	blood:

Variant related genes	Relation type
ENSG00000115310	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 77 )

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	rs79242845	chr2:55361542-55361543	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs543184965	chr2:55361569-55361570	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs2972061	chr2:55361591-55361592	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs531948095	chr2:55361596-55361597	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs566344213	chr2:55361631-55361632	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs2968802	chr2:55361644-55361645	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs367723298	chr2:55361653-55361654	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs2968803	chr2:55361670-55361671	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs62138265	chr2:55361681-55361682	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs527254952	chr2:55361707-55361708	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs547032107	chr2:55361802-55361803	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs189354413	chr2:55361804-55361805	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs561728271	chr2:55361825-55361826	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs180847743	chr2:55361831-55361832	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs56377199	chr2:55361867-55361868	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs200169498	chr2:55361872-55361873	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs549861044	chr2:55361884-55361885	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	1 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
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:199 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55360400-55361600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
2	chr2:55360400-55361600	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr2:55360400-55361600	Flanking Active TSS	K562	blood
4	chr2:55360400-55361800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
5	chr2:55360400-55361800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:55360400-55361800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:55360400-55361800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr2:55360400-55362000	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr2:55360400-55362200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:55360600-55361600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:55360600-55361600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr2:55360600-55361600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:55360600-55361600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr2:55360600-55361600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr2:55360600-55361600	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr2:55360600-55361600	Enhancers	Esophagus	oesophagus
17	chr2:55360600-55361600	Flanking Active TSS	Fetal Kidney	kidney
18	chr2:55360600-55361600	Flanking Active TSS	GM12878-XiMat	blood
19	chr2:55360600-55361600	Flanking Active TSS	Osteobl	bone
20	chr2:55360600-55361800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:55360600-55361800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr2:55360600-55361800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr2:55360600-55361800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:55360600-55361800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:55360600-55361800	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr2:55360600-55361800	Flanking Active TSS	Primary B cells from peripheral blood	blood
27	chr2:55360600-55361800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
28	chr2:55360600-55361800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:55360600-55361800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr2:55360600-55361800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr2:55360600-55361800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr2:55360600-55361800	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr2:55360600-55361800	Flanking Active TSS	Brain Germinal Matrix	brain
34	chr2:55360600-55361800	Enhancers	Fetal Heart	heart
35	chr2:55360600-55361800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr2:55360600-55361800	Flanking Active TSS	Rectal Smooth Muscle	rectum
37	chr2:55360600-55361800	Flanking Active TSS	NHEK	skin
38	chr2:55360600-55362000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr2:55360600-55362000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr2:55360600-55362200	Enhancers	H9 Cell Line	embryonic stem cell
41	chr2:55360600-55362200	Enhancers	Fetal Muscle Leg	muscle
42	chr2:55360600-55362200	Enhancers	Gastric	stomach
43	chr2:55360600-55362200	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr2:55360600-55362200	Enhancers	Spleen	Spleen
45	chr2:55360800-55361600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:55360800-55361600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:55360800-55361600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr2:55360800-55361600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr2:55360800-55361600	Flanking Active TSS	Fetal Brain Female	brain
50	chr2:55360800-55361600	Flanking Bivalent TSS/Enh	HepG2	liver

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