Variant report

Variant	esv3416220
Chromosome Location	chr2:40492514-40496610
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 169 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:169 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143833350	chr2:40492526-40492527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182521946	chr2:40492534-40492535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563300125	chr2:40492619-40492620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575090252	chr2:40492632-40492633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs23055	chr2:40492670-40492671	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs560650534	chr2:40492732-40492733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529475696	chr2:40492781-40492782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs403630	chr2:40492788-40492789	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs371317755	chr2:40492812-40492813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559488184	chr2:40492854-40492855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533678850	chr2:40492876-40492877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551744574	chr2:40492919-40492920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374653402	chr2:40492932-40492933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570070506	chr2:40492957-40492958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537044172	chr2:40492966-40492967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146854790	chr2:40492975-40492976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567746487	chr2:40492987-40492988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535086222	chr2:40492997-40492998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370833680	chr2:40493008-40493009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185641101	chr2:40493012-40493013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577718688	chr2:40493019-40493020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560247592	chr2:40493111-40493112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191786779	chr2:40493122-40493123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556967737	chr2:40493127-40493128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575242801	chr2:40493137-40493138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542197873	chr2:40493148-40493149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76493523	chr2:40493168-40493169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538375686	chr2:40493223-40493224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368976558	chr2:40493264-40493265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79824418	chr2:40493266-40493267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539892478	chr2:40493398-40493399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183564928	chr2:40493410-40493411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs76045114	chr2:40493435-40493436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552094825	chr2:40493437-40493438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372769341	chr2:40493445-40493446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530968454	chr2:40493446-40493447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570486170	chr2:40493449-40493450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549412501	chr2:40493463-40493464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143825508	chr2:40493484-40493485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148084584	chr2:40493486-40493487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374189495	chr2:40493534-40493535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547076841	chr2:40493584-40493585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140962026	chr2:40493586-40493587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538452372	chr2:40493612-40493613	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550305637	chr2:40493638-40493639	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs150213918	chr2:40493642-40493643	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575436005	chr2:40493659-40493660	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371610753	chr2:40493669-40493670	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376203589	chr2:40493712-40493713	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188746324	chr2:40493727-40493728	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40478800-40496600	Weak transcription	Right Ventricle	heart
2	chr2:40478800-40499600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:40485800-40492800	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:40487600-40499600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:40487600-40503200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:40487600-40505600	Weak transcription	HSMM	muscle
7	chr2:40487800-40499800	Weak transcription	Osteobl	bone
8	chr2:40487800-40502600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr2:40488200-40506200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:40488400-40498200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:40488600-40502800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr2:40490200-40493600	Weak transcription	Fetal Heart	heart
13	chr2:40490400-40497400	Weak transcription	Aorta	Aorta
14	chr2:40490400-40497800	Weak transcription	Left Ventricle	heart
15	chr2:40492000-40501600	Enhancers	Fetal Intestine Small	intestine
16	chr2:40492000-40501800	Enhancers	Fetal Intestine Large	intestine
17	chr2:40492200-40493800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr2:40492400-40493000	Weak transcription	Dnd41	blood
19	chr2:40492600-40493000	Enhancers	Fetal Lung	lung
20	chr2:40492800-40493800	Enhancers	Colon Smooth Muscle	Colon
21	chr2:40493600-40494600	Genic enhancers	Fetal Heart	heart
22	chr2:40493800-40499600	Weak transcription	Colon Smooth Muscle	Colon
23	chr2:40494600-40497400	Enhancers	Fetal Heart	heart
24	chr2:40494800-40495000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:40495000-40495800	Enhancers	Right Atrium	heart
26	chr2:40495000-40496200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:40495800-40497800	Weak transcription	Right Atrium	heart
28	chr2:40496200-40498000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:40496600-40498600	Enhancers	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links