Variant report

Variant	esv2503095
Chromosome Location	chr2:54692739-54694320
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71845777	chr2:54692773-54692774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201001365	chr2:54692774-54692775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs13384000	chr2:54692775-54692776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10641314	chr2:54692776-54692777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs398104316	chr2:54692777-54692778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572504645	chr2:54692779-54692780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs70944167	chr2:54692793-54692794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187227656	chr2:54692803-54692804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4671937	chr2:54692815-54692816	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs191689929	chr2:54692817-54692818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77797458	chr2:54692864-54692865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557862724	chr2:54692868-54692869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370301230	chr2:54692889-54692890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34788293	chr2:54692978-54692979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373748342	chr2:54693116-54693117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74700039	chr2:54693128-54693129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183873579	chr2:54693174-54693175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559144544	chr2:54693203-54693204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs4671938	chr2:54693204-54693205	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs541588344	chr2:54693237-54693238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs147570385	chr2:54693272-54693273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375606022	chr2:54693286-54693287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187642520	chr2:54693314-54693315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368604289	chr2:54693331-54693332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542345291	chr2:54693347-54693348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550700656	chr2:54693386-54693387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559452436	chr2:54693461-54693462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs6755780	chr2:54693490-54693491	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs75631271	chr2:54693495-54693496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192778414	chr2:54693498-54693499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200048862	chr2:54693630-54693631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10169422	chr2:54693754-54693755	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs370618601	chr2:54693828-54693829	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs184215863	chr2:54693868-54693869	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs115486808	chr2:54693871-54693872	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs116067119	chr2:54693878-54693879	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs375646105	chr2:54693894-54693895	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs190809366	chr2:54693902-54693903	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs569479525	chr2:54693929-54693930	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs565991754	chr2:54693949-54693950	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs529815361	chr2:54694022-54694023	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114403761	chr2:54694027-54694028	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs578034084	chr2:54694069-54694070	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs7573223	chr2:54694130-54694131	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs193026152	chr2:54694141-54694142	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553763543	chr2:54694143-54694144	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs4233950	chr2:54694151-54694152	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs541752791	chr2:54694199-54694200	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374996620	chr2:54694210-54694211	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561731972	chr2:54694250-54694251	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	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
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54685200-54694600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:54685200-54696600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:54685400-54696600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:54686400-54694000	Weak transcription	Fetal Stomach	stomach
5	chr2:54686400-54695600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:54686400-54697800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:54686600-54694000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:54686600-54694000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:54686600-54695000	Enhancers	Fetal Heart	heart
10	chr2:54686600-54696200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:54686600-54696600	Weak transcription	Lung	lung
12	chr2:54686600-54696800	Weak transcription	NH-A	brain
13	chr2:54686600-54697000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:54686600-54698600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:54687000-54700800	Weak transcription	Brain Germinal Matrix	brain
16	chr2:54687600-54696800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:54688400-54694600	Enhancers	Colon Smooth Muscle	Colon
18	chr2:54688600-54696200	Weak transcription	Right Ventricle	heart
19	chr2:54689400-54693000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:54689400-54693800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:54689400-54694000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:54689400-54694000	Weak transcription	NHLF	lung
23	chr2:54689600-54693800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:54690200-54694200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:54690400-54693800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr2:54690400-54694000	Weak transcription	HSMMtube	muscle
27	chr2:54690600-54693800	Weak transcription	Brain Angular Gyrus	brain
28	chr2:54690600-54694200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr2:54690600-54695200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:54690600-54696600	Weak transcription	Spleen	Spleen
31	chr2:54690800-54694000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr2:54690800-54694000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:54690800-54694000	Weak transcription	Fetal Muscle Leg	muscle
34	chr2:54690800-54694000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:54690800-54694400	Weak transcription	Fetal Muscle Trunk	muscle
36	chr2:54690800-54695600	Weak transcription	Fetal Brain Male	brain
37	chr2:54690800-54696200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:54690800-54697600	Weak transcription	Fetal Brain Female	brain
39	chr2:54691000-54693200	Enhancers	HUVEC	blood vessel
40	chr2:54691200-54692800	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr2:54691600-54693200	Enhancers	Rectal Smooth Muscle	rectum
42	chr2:54691600-54696000	Weak transcription	HepG2	liver
43	chr2:54692000-54693400	Enhancers	Stomach Smooth Muscle	stomach
44	chr2:54692200-54692800	Enhancers	NHDF-Ad	bronchial
45	chr2:54692200-54693400	Enhancers	Placenta Amnion	Placenta Amnion
46	chr2:54692200-54694000	Enhancers	Fetal Lung	lung
47	chr2:54692200-54696600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:54692600-54693000	Weak transcription	A549	lung
49	chr2:54692600-54693000	Weak transcription	Osteobl	bone
50	chr2:54692600-54693200	Weak transcription	Brain Hippocampus Middle	brain

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