Variant report

Variant	nsv1010508
Chromosome Location	chr2:40526981-40590777
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:40533051..40534641-chr2:40542732..40544808,2	K562	blood:
2	chr2:40533051..40534641-chr2:40542732..40544808,2	K562	blood:
3	chr2:40569259..40571407-chr2:40573018..40575519,2	K562	blood:
4	chr2:40547974..40550483-chr2:40553546..40555162,2	K562	blood:
5	chr2:40586222..40589135-chr2:40597627..40599804,2	K562	blood:
6	chr2:40547974..40550483-chr2:40553546..40555162,2	K562	blood:
7	chr17:57914240..57916729-chr2:40555798..40557465,2	MCF-7	breast:
8	chr2:40569259..40571407-chr2:40573018..40575519,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000062716	chromatin interactions

Extended variants
information (count: 3219 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:3219 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570730725	chr2:40526997-40526998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184113320	chr2:40527000-40527001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560048298	chr2:40527004-40527005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62150807	chr2:40527005-40527006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75741487	chr2:40527034-40527035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114246425	chr2:40527072-40527073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527579777	chr2:40527085-40527086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576499452	chr2:40527109-40527110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs727477	chr2:40527128-40527129	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs553935541	chr2:40527132-40527133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143534501	chr2:40527146-40527147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577091167	chr2:40527149-40527150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148034277	chr2:40527165-40527166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141765762	chr2:40527171-40527172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79545581	chr2:40527209-40527210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370501152	chr2:40527212-40527213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541950574	chr2:40527235-40527236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150177566	chr2:40527236-40527237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138525886	chr2:40527261-40527262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552366338	chr2:40527264-40527265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375201557	chr2:40527276-40527277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564407509	chr2:40527303-40527304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531483084	chr2:40527322-40527323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549793365	chr2:40527329-40527330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567951599	chr2:40527374-40527375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535385061	chr2:40527385-40527386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141559006	chr2:40527424-40527425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377378090	chr2:40527430-40527431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565411668	chr2:40527441-40527442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534142902	chr2:40527448-40527449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558711741	chr2:40527460-40527461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146187771	chr2:40527532-40527533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs72530105	chr2:40527544-40527545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10673829	chr2:40527545-40527546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34429719	chr2:40527546-40527547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187288626	chr2:40527551-40527552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543527035	chr2:40527556-40527557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556562430	chr2:40527568-40527569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115666658	chr2:40527574-40527575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs137922159	chr2:40527585-40527586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544363643	chr2:40527586-40527587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551060123	chr2:40527591-40527592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191857787	chr2:40527607-40527608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546046595	chr2:40527619-40527620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569493959	chr2:40527625-40527626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540074021	chr2:40527645-40527646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185043542	chr2:40527650-40527651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs6544318	chr2:40527665-40527666	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs190268206	chr2:40527698-40527699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs149484948	chr2:40527712-40527713	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:783 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40512800-40530000	Weak transcription	NHDF-Ad	bronchial
2	chr2:40515200-40527600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:40515200-40531400	Weak transcription	Osteobl	bone
4	chr2:40515800-40530400	Weak transcription	Right Ventricle	heart
5	chr2:40518200-40540600	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr2:40519800-40527400	Weak transcription	HSMM	muscle
7	chr2:40520400-40530000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:40521000-40527600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr2:40526000-40527000	Enhancers	Left Ventricle	heart
10	chr2:40526200-40527600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:40526200-40527600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr2:40526400-40530000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr2:40526400-40531400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr2:40526600-40527000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:40526600-40527800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:40526800-40527800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:40526800-40528000	Enhancers	Fetal Heart	heart
18	chr2:40526800-40528400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:40527000-40527400	Enhancers	HSMMtube	muscle
20	chr2:40527000-40530400	Weak transcription	Left Ventricle	heart
21	chr2:40527200-40527600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:40527200-40527800	Enhancers	NHEK	skin
23	chr2:40527400-40527800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:40527400-40527800	Weak transcription	HSMMtube	muscle
25	chr2:40527400-40528400	Enhancers	HSMM	muscle
26	chr2:40527600-40528000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:40527600-40528000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:40527600-40528000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:40527600-40528400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr2:40527600-40529800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:40527600-40531000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:40527800-40528000	Enhancers	Psoas Muscle	Psoas
33	chr2:40527800-40528000	Enhancers	HSMMtube	muscle
34	chr2:40527800-40530400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:40528000-40530000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:40528000-40530000	Weak transcription	HSMMtube	muscle
37	chr2:40528000-40530200	Weak transcription	Fetal Heart	heart
38	chr2:40528000-40531600	Weak transcription	Psoas Muscle	Psoas
39	chr2:40528400-40529800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr2:40528400-40531200	Weak transcription	HSMM	muscle
41	chr2:40528800-40541400	Weak transcription	Dnd41	blood
42	chr2:40529000-40529200	Enhancers	Aorta	Aorta
43	chr2:40529200-40530400	Weak transcription	Aorta	Aorta
44	chr2:40529800-40530600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:40529800-40532400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr2:40529800-40532600	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr2:40530000-40530600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:40530000-40530600	Enhancers	Rectal Smooth Muscle	rectum
49	chr2:40530000-40530600	Enhancers	NHDF-Ad	bronchial
50	chr2:40530000-40531800	Enhancers	Stomach Smooth Muscle	stomach

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