Variant report

Variant	esv3345369
Chromosome Location	chr2:58465514-58466016
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr2:58464887-58465525	K562	blood:	n/a	n/a
2	SMC3	chr2:58465922-58465975	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:58444316..58447844-chr2:58463533..58467170,3	K562	blood:
2	chr2:58465064..58466723-chr2:58466859..58468445,2	K562	blood:
3	chr2:58463999..58466723-chr2:58466859..58468849,2	K562	blood:
4	chr2:58448319..58453371-chr2:58460380..58466527,5	K562	blood:
5	chr2:58272245..58275889-chr2:58464232..58469335,5	K562	blood:
6	chr2:58465119..58467411-chr2:58475928..58478281,2	K562	blood:
7	chr2:58269958..58272240-chr2:58464322..58467065,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000273063	TF binding region
ENSG00000273063	chromatin interactions
ENSG00000028116	chromatin interactions
ENSG00000115392	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139251225	chr2:58465515-58465516	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs371556562	chr2:58465525-58465526	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs550762243	chr2:58465531-58465532	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs72948894	chr2:58465577-58465578	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs371433803	chr2:58465583-58465584	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs558106588	chr2:58465591-58465592	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs576464123	chr2:58465635-58465636	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs543472833	chr2:58465647-58465648	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs144264463	chr2:58465652-58465653	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs573943488	chr2:58465674-58465675	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs556835565	chr2:58465697-58465698	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs541209988	chr2:58465707-58465708	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs559810347	chr2:58465720-58465721	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs576069231	chr2:58465732-58465733	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs111863996	chr2:58465754-58465755	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs148744282	chr2:58465760-58465761	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs144081841	chr2:58465772-58465773	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs35698474	chr2:58465790-58465791	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs538697764	chr2:58465838-58465839	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs531322738	chr2:58465893-58465894	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs34556232	chr2:58465927-58465928	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs568137431	chr2:58465929-58465930	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs535684283	chr2:58465933-58465934	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs547537942	chr2:58466013-58466014	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58391000-58467000	Weak transcription	HMEC	breast
2	chr2:58416600-58467200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:58432000-58466400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr2:58438600-58466400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:58439000-58467400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:58440000-58467400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr2:58440600-58467400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:58444200-58466200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:58450000-58466200	Weak transcription	HUVEC	blood vessel
10	chr2:58452000-58467400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:58452000-58467400	Weak transcription	NHLF	lung
12	chr2:58453800-58467400	Weak transcription	NHDF-Ad	bronchial
13	chr2:58454600-58466800	Weak transcription	HSMM	muscle
14	chr2:58454800-58466200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:58454800-58466400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:58454800-58467400	Weak transcription	Primary B cells from cord blood	blood
17	chr2:58454800-58467400	Weak transcription	Fetal Thymus	thymus
18	chr2:58454800-58467400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:58454800-58467400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:58454800-58467400	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr2:58455000-58466200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr2:58455000-58466200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr2:58455000-58466200	Weak transcription	Fetal Intestine Small	intestine
24	chr2:58455000-58466800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:58455000-58466800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:58455000-58467400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:58455000-58467400	Weak transcription	Fetal Stomach	stomach
28	chr2:58455000-58467400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:58455000-58467600	Weak transcription	Left Ventricle	heart
30	chr2:58455000-58467600	Weak transcription	Ovary	ovary
31	chr2:58455000-58468000	Weak transcription	Gastric	stomach
32	chr2:58455000-58468000	Weak transcription	Spleen	Spleen
33	chr2:58455200-58467400	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr2:58455200-58467400	Weak transcription	Fetal Muscle Leg	muscle
35	chr2:58460800-58467400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:58461000-58466200	Weak transcription	Brain Germinal Matrix	brain
37	chr2:58461000-58467800	Weak transcription	Small Intestine	intestine
38	chr2:58461400-58466200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:58462000-58467200	Weak transcription	Osteobl	bone
40	chr2:58462400-58466200	Weak transcription	Liver	Liver
41	chr2:58462400-58467400	Weak transcription	Fetal Heart	heart
42	chr2:58462600-58465800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr2:58462600-58466400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr2:58462600-58466400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr2:58462600-58466800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr2:58462600-58466800	Weak transcription	Brain Substantia Nigra	brain
47	chr2:58462600-58467400	Weak transcription	Pancreas	Pancrea
48	chr2:58463400-58466000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:58463600-58467400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr2:58464000-58465800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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