Variant report

Variant	esv2536757
Chromosome Location	chr2:40569628-40571240
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:40569259..40571407-chr2:40573018..40575519,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535127139	chr2:40569656-40569657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183301384	chr2:40569663-40569664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs61117604	chr2:40569718-40569719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141822525	chr2:40569735-40569736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561234431	chr2:40569739-40569740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4521092	chr2:40569746-40569747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
7	rs540350084	chr2:40569751-40569752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188698945	chr2:40569753-40569754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565122264	chr2:40569762-40569763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs13387226	chr2:40569765-40569766	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs567640138	chr2:40569766-40569767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550899586	chr2:40569773-40569774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs72798615	chr2:40569799-40569800	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs577740348	chr2:40569807-40569808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372654417	chr2:40569808-40569809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76673631	chr2:40569835-40569836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146066640	chr2:40569852-40569853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs367629788	chr2:40569884-40569885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs13424969	chr2:40569888-40569889	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs184844548	chr2:40569913-40569914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571854161	chr2:40569960-40569961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138842281	chr2:40569974-40569975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554070269	chr2:40569977-40569978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186605082	chr2:40569981-40569982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576025661	chr2:40569984-40569985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572362841	chr2:40569997-40569998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540677886	chr2:40570011-40570012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555034277	chr2:40570051-40570052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546769373	chr2:40570064-40570065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs367983830	chr2:40570068-40570069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573259144	chr2:40570094-40570095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191387124	chr2:40570111-40570112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142051578	chr2:40570161-40570162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562016978	chr2:40570171-40570172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577222847	chr2:40570172-40570173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544091060	chr2:40570201-40570202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562313965	chr2:40570221-40570222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184553990	chr2:40570224-40570225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541705853	chr2:40570272-40570273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574197243	chr2:40570310-40570311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs367549439	chr2:40570341-40570342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559754007	chr2:40570343-40570344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527283503	chr2:40570353-40570354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552102780	chr2:40570449-40570450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544664717	chr2:40570454-40570455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs74569848	chr2:40570521-40570522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562818409	chr2:40570523-40570524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531403314	chr2:40570551-40570552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371758328	chr2:40570586-40570587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533607725	chr2:40570595-40570596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40543200-40578800	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr2:40552800-40590600	Weak transcription	Fetal Kidney	kidney
3	chr2:40560000-40571400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:40560200-40579000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:40561200-40572800	Weak transcription	Left Ventricle	heart
6	chr2:40566200-40575600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr2:40567200-40572400	Enhancers	Fetal Heart	heart
8	chr2:40568200-40571800	Weak transcription	Right Ventricle	heart
9	chr2:40568600-40570600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:40568600-40571200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:40568600-40575800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:40568800-40570400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:40568800-40570600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:40568800-40571000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:40568800-40571000	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:40568800-40571000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:40568800-40571000	Weak transcription	NH-A	brain
18	chr2:40568800-40573200	Weak transcription	Dnd41	blood
19	chr2:40569000-40569800	Weak transcription	Osteobl	bone
20	chr2:40569000-40570200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:40569000-40570400	Weak transcription	NHDF-Ad	bronchial
22	chr2:40569000-40570600	Weak transcription	HSMMtube	muscle
23	chr2:40569200-40569800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:40569200-40570600	Weak transcription	HSMM	muscle
25	chr2:40569400-40571400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:40569800-40571400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:40569800-40573600	Enhancers	Osteobl	bone
28	chr2:40570200-40575600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr2:40570400-40574600	Enhancers	Rectal Smooth Muscle	rectum
30	chr2:40570400-40576800	Enhancers	NHDF-Ad	bronchial
31	chr2:40570600-40571800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:40570600-40572200	Enhancers	HSMM	muscle
33	chr2:40570600-40572400	Enhancers	HSMMtube	muscle
34	chr2:40570600-40574200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:40571000-40571400	Enhancers	Aorta	Aorta
36	chr2:40571000-40571400	Enhancers	NHEK	skin
37	chr2:40571000-40571600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:40571000-40571600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr2:40571000-40571600	Enhancers	NH-A	brain
40	chr2:40571000-40571800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:40571000-40572800	Enhancers	Colon Smooth Muscle	Colon
42	chr2:40571000-40573400	Enhancers	Stomach Smooth Muscle	stomach
43	chr2:40571000-40573800	Enhancers	Fetal Stomach	stomach
44	chr2:40571000-40577000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:40571200-40571400	Enhancers	Adipose Nuclei	Adipose
46	chr2:40571200-40571600	Enhancers	HMEC	breast
47	chr2:40571200-40572400	Enhancers	NHLF	lung
48	chr2:40571200-40572800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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