Variant report

Variant	esv1813430
Chromosome Location	chr2:40604270-40615520
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	chr1:117909379..117910083-chr2:40612320..40613217,2	NB4	blood:

Variant related genes	Relation type
ENSG00000198162	chromatin interactions

Extended variants
information (count: 595 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:595 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386645243	chr2:40604270-40604271	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201340278	chr2:40604273-40604274	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76967135	chr2:40604276-40604277	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148487249	chr2:40604280-40604281	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78962040	chr2:40604319-40604320	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142484344	chr2:40604331-40604332	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78971989	chr2:40604358-40604359	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536378813	chr2:40604359-40604360	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529369527	chr2:40604387-40604388	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73926638	chr2:40604408-40604409	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs528235057	chr2:40604426-40604427	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149106637	chr2:40604431-40604432	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374813124	chr2:40604437-40604438	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147564292	chr2:40604467-40604468	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553635093	chr2:40604506-40604507	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140387912	chr2:40604515-40604516	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183423319	chr2:40604543-40604544	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187540195	chr2:40604548-40604549	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575664938	chr2:40604558-40604559	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542727616	chr2:40604593-40604594	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192765495	chr2:40604609-40604610	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572903994	chr2:40604631-40604632	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540274355	chr2:40604648-40604649	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13405660	chr2:40604671-40604672	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs532336510	chr2:40604690-40604691	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550727044	chr2:40604716-40604717	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562565646	chr2:40604768-40604769	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556501557	chr2:40604775-40604776	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529782835	chr2:40604780-40604781	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550618217	chr2:40604786-40604787	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566430352	chr2:40604815-40604816	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533768041	chr2:40604835-40604836	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543660041	chr2:40604874-40604875	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551926155	chr2:40604911-40604912	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs57686441	chr2:40604937-40604938	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs182648824	chr2:40605007-40605008	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547411328	chr2:40605020-40605021	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557495140	chr2:40605021-40605022	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188117729	chr2:40605032-40605033	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs72941904	chr2:40605055-40605056	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs369460672	chr2:40605077-40605078	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573039722	chr2:40605139-40605140	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372924473	chr2:40605158-40605159	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191822313	chr2:40605176-40605177	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527687486	chr2:40605185-40605186	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558707010	chr2:40605201-40605202	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577037046	chr2:40605203-40605204	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544196243	chr2:40605210-40605211	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79598314	chr2:40605211-40605212	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529920752	chr2:40605252-40605253	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40592400-40605200	Weak transcription	Right Atrium	heart
2	chr2:40592800-40606600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr2:40593400-40607000	Weak transcription	Dnd41	blood
4	chr2:40594200-40605200	Weak transcription	Fetal Brain Female	brain
5	chr2:40595000-40611000	Weak transcription	Right Ventricle	heart
6	chr2:40598400-40606600	Weak transcription	Aorta	Aorta
7	chr2:40599200-40608200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:40599200-40609000	Weak transcription	Left Ventricle	heart
9	chr2:40600000-40605200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr2:40600400-40606600	Weak transcription	HSMM	muscle
11	chr2:40600800-40609000	Weak transcription	NHDF-Ad	bronchial
12	chr2:40601000-40605800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:40601000-40621800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:40601400-40606600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:40601400-40606600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:40602600-40607200	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:40603400-40605600	Genic enhancers	Fetal Heart	heart
18	chr2:40603400-40605800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr2:40605200-40606200	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr2:40605400-40605800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:40605600-40606600	Weak transcription	Fetal Heart	heart
22	chr2:40605800-40606200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:40605800-40606600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr2:40606200-40608800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:40606600-40606800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:40606600-40607200	Strong transcription	HSMM	muscle
27	chr2:40606600-40607800	Enhancers	Fetal Heart	heart
28	chr2:40606600-40608200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr2:40606600-40609400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
30	chr2:40606600-40609800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
31	chr2:40606800-40607000	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr2:40606800-40608200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:40607000-40607800	Strong transcription	Dnd41	blood
34	chr2:40607200-40607600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:40607200-40608400	Enhancers	Rectal Smooth Muscle	rectum
36	chr2:40607200-40608800	Enhancers	Colon Smooth Muscle	Colon
37	chr2:40607200-40609200	ZNF genes & repeats	HSMM	muscle
38	chr2:40607800-40609600	Genic enhancers	Fetal Heart	heart
39	chr2:40607800-40610000	ZNF genes & repeats	Dnd41	blood
40	chr2:40607800-40610600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
41	chr2:40608200-40609800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:40608400-40622000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr2:40608800-40609200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:40608800-40612400	Weak transcription	Colon Smooth Muscle	Colon
45	chr2:40609000-40609200	Enhancers	Left Ventricle	heart
46	chr2:40609000-40609400	ZNF genes & repeats	NHDF-Ad	bronchial
47	chr2:40609200-40609600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
48	chr2:40609200-40611000	Weak transcription	Left Ventricle	heart
49	chr2:40609200-40611200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:40609200-40612200	Weak transcription	HSMM	muscle

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