Variant report

Variant	nsv962524
Chromosome Location	chr2:40523031-40530466
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 390 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:390 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569363789	chr2:40523107-40523108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374167665	chr2:40523124-40523125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs118034613	chr2:40523131-40523132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557259905	chr2:40523134-40523135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4952603	chr2:40523163-40523164	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs551192830	chr2:40523165-40523166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145234915	chr2:40523167-40523168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575105689	chr2:40523175-40523176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115171745	chr2:40523176-40523177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554035090	chr2:40523185-40523186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546472477	chr2:40523239-40523240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145884187	chr2:40523260-40523261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546170261	chr2:40523283-40523284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183203047	chr2:40523369-40523370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576568148	chr2:40523372-40523373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371607501	chr2:40523387-40523388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149011359	chr2:40523408-40523409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4952604	chr2:40523414-40523415	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs113518455	chr2:40523419-40523420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4952605	chr2:40523489-40523490	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs559561141	chr2:40523490-40523491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79822512	chr2:40523496-40523497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550935083	chr2:40523561-40523562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569428348	chr2:40523569-40523570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188908563	chr2:40523572-40523573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs151037383	chr2:40523625-40523626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192642448	chr2:40523632-40523633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536002842	chr2:40523637-40523638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554171249	chr2:40523690-40523691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184171260	chr2:40523888-40523889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375153822	chr2:40523892-40523893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142392777	chr2:40523898-40523899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370969780	chr2:40523903-40523904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576415692	chr2:40523910-40523911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558166092	chr2:40523974-40523975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4952606	chr2:40523995-40523996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543551832	chr2:40523997-40523998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561961098	chr2:40524009-40524010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573766417	chr2:40524010-40524011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76061393	chr2:40524012-40524013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561855891	chr2:40524025-40524026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114649515	chr2:40524038-40524039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs4952607	chr2:40524039-40524040	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs550996586	chr2:40524059-40524060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562941578	chr2:40524060-40524061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545206764	chr2:40524120-40524121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200231141	chr2:40524173-40524174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191626244	chr2:40524197-40524198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184338889	chr2:40524231-40524232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566190590	chr2:40524263-40524264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40512400-40526200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:40512800-40530000	Weak transcription	NHDF-Ad	bronchial
3	chr2:40515200-40527600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:40515200-40531400	Weak transcription	Osteobl	bone
5	chr2:40515800-40530400	Weak transcription	Right Ventricle	heart
6	chr2:40517000-40526000	Weak transcription	Left Ventricle	heart
7	chr2:40517400-40526000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:40518200-40540600	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr2:40518400-40526000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr2:40519800-40527400	Weak transcription	HSMM	muscle
11	chr2:40520400-40530000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:40521000-40527600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr2:40522800-40523200	Weak transcription	Fetal Heart	heart
14	chr2:40523000-40523400	Enhancers	Brain Germinal Matrix	brain
15	chr2:40523200-40523400	Enhancers	Fetal Heart	heart
16	chr2:40523400-40523800	Weak transcription	Fetal Heart	heart
17	chr2:40523800-40524400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:40523800-40525200	Enhancers	Fetal Heart	heart
19	chr2:40524400-40526800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:40525200-40525600	Weak transcription	Fetal Heart	heart
21	chr2:40525600-40525800	Enhancers	Fetal Heart	heart
22	chr2:40525800-40526400	Weak transcription	Fetal Heart	heart
23	chr2:40526000-40526400	Strong transcription	Stomach Smooth Muscle	stomach
24	chr2:40526000-40526400	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr2:40526000-40527000	Enhancers	Left Ventricle	heart
26	chr2:40526200-40527600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:40526200-40527600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr2:40526400-40526800	Genic enhancers	Fetal Heart	heart
29	chr2:40526400-40530000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr2:40526400-40531400	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr2:40526600-40527000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr2:40526600-40527800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:40526800-40527800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:40526800-40528000	Enhancers	Fetal Heart	heart
35	chr2:40526800-40528400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:40527000-40527400	Enhancers	HSMMtube	muscle
37	chr2:40527000-40530400	Weak transcription	Left Ventricle	heart
38	chr2:40527200-40527600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:40527200-40527800	Enhancers	NHEK	skin
40	chr2:40527400-40527800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:40527400-40527800	Weak transcription	HSMMtube	muscle
42	chr2:40527400-40528400	Enhancers	HSMM	muscle
43	chr2:40527600-40528000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:40527600-40528000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:40527600-40528000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:40527600-40528400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr2:40527600-40529800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr2:40527600-40531000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr2:40527800-40528000	Enhancers	Psoas Muscle	Psoas
50	chr2:40527800-40528000	Enhancers	HSMMtube	muscle

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