Variant report

Variant	esv3414820
Chromosome Location	chr2:152616581-152618629
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:152610387..152612383-chr2:152614274..152616912,2	K562	blood:
2	chr2:152615094..152618024-chr2:152639649..152643681,5	K562	blood:
3	chr2:152614524..152619932-chr2:152620577..152626819,11	K562	blood:
4	chr2:152615094..152617806-chr2:152640783..152643681,2	K562	blood:
5	chr2:152610150..152612599-chr2:152612942..152616912,4	K562	blood:
6	chr2:152567546..152569440-chr2:152615206..152617035,2	K562	blood:
7	chr2:152612871..152615021-chr2:152615228..152617086,7	K562	blood:
8	chr2:152615779..152617906-chr2:152682702..152684733,2	K562	blood:
9	chr2:152616288..152619244-chr2:152629461..152632128,2	K562	blood:

No data

Extended variants
information (count: 61 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80354374	chr2:152616588-152616589	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs557215735	chr2:152616590-152616591	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs537976145	chr2:152616609-152616610	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs554684329	chr2:152616718-152616719	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs191705962	chr2:152616733-152616734	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs575560038	chr2:152616780-152616781	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs143112358	chr2:152616830-152616831	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs146108725	chr2:152616848-152616849	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs114418388	chr2:152616872-152616873	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs184170023	chr2:152616880-152616881	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs77365350	chr2:152616883-152616884	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs200338650	chr2:152616907-152616908	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs368630592	chr2:152616908-152616909	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs539423138	chr2:152616958-152616959	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs546200280	chr2:152616973-152616974	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs576142082	chr2:152616994-152616995	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs140136306	chr2:152617002-152617003	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs6433610	chr2:152617047-152617048	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs58320504	chr2:152617052-152617053	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs189007970	chr2:152617055-152617056	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs573213283	chr2:152617058-152617059	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs529936843	chr2:152617064-152617065	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs182131201	chr2:152617065-152617066	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs560422134	chr2:152617094-152617095	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs145748721	chr2:152617133-152617134	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs374765624	chr2:152617160-152617161	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs540720883	chr2:152617244-152617245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs199863545	chr2:152617302-152617303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs56129285	chr2:152617462-152617463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185478100	chr2:152617599-152617600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs199629366	chr2:152617603-152617604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190831960	chr2:152617615-152617616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568899975	chr2:152617618-152617619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555748723	chr2:152617643-152617644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34267071	chr2:152617651-152617652	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs55646580	chr2:152617668-152617669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs60851132	chr2:152617692-152617693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148542526	chr2:152617701-152617702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568121754	chr2:152617736-152617737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534407349	chr2:152617752-152617753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554044153	chr2:152617853-152617854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142784911	chr2:152617895-152617896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs151048653	chr2:152617986-152617987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141389131	chr2:152618027-152618028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573869614	chr2:152618105-152618106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576073283	chr2:152618115-152618116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7564630	chr2:152618168-152618169	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs554915727	chr2:152618207-152618208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs377083347	chr2:152618210-152618211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555448131	chr2:152618220-152618221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152595800-152620200	Weak transcription	Primary B cells from cord blood	blood
2	chr2:152597200-152618400	Weak transcription	Aorta	Aorta
3	chr2:152598200-152618600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr2:152609400-152617200	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr2:152611000-152616600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:152611000-152632400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:152611200-152617800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:152611200-152620400	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:152611600-152622600	Enhancers	K562	blood
10	chr2:152612000-152622200	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr2:152613200-152616800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:152614600-152622000	Weak transcription	Fetal Lung	lung
13	chr2:152614600-152622200	Weak transcription	Left Ventricle	heart
14	chr2:152614600-152638000	Weak transcription	Pancreas	Pancrea
15	chr2:152615000-152622400	Weak transcription	Adipose Nuclei	Adipose
16	chr2:152615200-152616600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:152615400-152616800	Enhancers	Psoas Muscle	Psoas
18	chr2:152615400-152622400	Weak transcription	Lung	lung
19	chr2:152615600-152623000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr2:152616200-152616600	Weak transcription	Right Atrium	heart
21	chr2:152616200-152619200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:152616400-152617200	Flanking Active TSS	HepG2	liver
23	chr2:152616400-152617200	Enhancers	HSMMtube	muscle
24	chr2:152616600-152616800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:152616600-152616800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:152616600-152616800	Enhancers	Placenta	Placenta
27	chr2:152616600-152616800	Enhancers	Placenta Amnion	Placenta Amnion
28	chr2:152616600-152617000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr2:152616600-152617000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:152616600-152617000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr2:152616600-152617000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:152616600-152617200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:152616600-152617200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:152616600-152617200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:152616600-152617200	Enhancers	Right Atrium	heart
36	chr2:152616600-152620200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:152616800-152617000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr2:152616800-152617000	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr2:152616800-152617000	Enhancers	Esophagus	oesophagus
40	chr2:152616800-152617000	Enhancers	Gastric	stomach
41	chr2:152616800-152617200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr2:152616800-152617200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:152616800-152617200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:152616800-152618000	Weak transcription	Psoas Muscle	Psoas
45	chr2:152616800-152619800	Weak transcription	Placenta	Placenta
46	chr2:152616800-152621400	Weak transcription	Fetal Stomach	stomach
47	chr2:152616800-152622200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr2:152616800-152644400	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr2:152616800-152662400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr2:152617000-152620400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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