Variant report

Variant	nsv874990
Chromosome Location	chr2:125038678-125099924
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:125083304..125083889-chr2:125567432..125567973,2	MCF-7	breast:
2	chr2:125097769..125099451-chr2:125102621..125104236,2	K562	blood:
3	chr2:125042727..125044673-chr2:125055207..125057776,2	K562	blood:
4	chr2:125042727..125044673-chr2:125055207..125057776,2	K562	blood:

Extended variants
information (count: 1207 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1207 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55827125	chr2:125038678-125038679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565972369	chr2:125038683-125038684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145208700	chr2:125038690-125038691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534864485	chr2:125038694-125038695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540324494	chr2:125038720-125038721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557625139	chr2:125038751-125038752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188200909	chr2:125038798-125038799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537119591	chr2:125038853-125038854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs367739625	chr2:125038889-125038890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557403266	chr2:125038891-125038892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181060027	chr2:125038901-125038902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564509054	chr2:125038951-125038952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553751148	chr2:125038953-125038954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185954201	chr2:125038974-125038975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148950904	chr2:125038980-125038981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191544573	chr2:125038998-125038999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143681619	chr2:125039014-125039015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34315828	chr2:125039084-125039085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377615825	chr2:125039126-125039127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545207792	chr2:125039196-125039197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373284988	chr2:125039199-125039200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565302389	chr2:125039201-125039202	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs577120027	chr2:125039231-125039232	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs533070056	chr2:125039244-125039245	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs549869010	chr2:125039250-125039251	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs563384054	chr2:125039262-125039263	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs528939046	chr2:125039267-125039268	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs546490100	chr2:125039281-125039282	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs148087882	chr2:125039285-125039286	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs536797051	chr2:125039306-125039307	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs780053	chr2:125039321-125039322	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs565987943	chr2:125039332-125039333	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs532859481	chr2:125039358-125039359	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs551170864	chr2:125039383-125039384	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs532009721	chr2:125039415-125039416	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs374122969	chr2:125039423-125039424	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs141819503	chr2:125039427-125039428	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs113071431	chr2:125039672-125039673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373641862	chr2:125039678-125039679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116485183	chr2:125039702-125039703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372092551	chr2:125039725-125039726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562258276	chr2:125039771-125039772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552910450	chr2:125039782-125039783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs375215333	chr2:125039785-125039786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573218618	chr2:125039796-125039797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs780055	chr2:125039802-125039803	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs548749433	chr2:125039814-125039815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559182669	chr2:125039828-125039829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10496630	chr2:125039830-125039831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs544785748	chr2:125039868-125039869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Developmental delay	21147756	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:125025800-125041200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:125039200-125039400	Active TSS	Adipose Nuclei	Adipose
3	chr2:125039400-125039600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:125039400-125039600	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr2:125039600-125039800	Enhancers	Adipose Nuclei	Adipose
6	chr2:125041200-125041600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
7	chr2:125041600-125043800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:125043600-125044000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:125043800-125044200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr2:125051000-125051800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr2:125051800-125053600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:125053600-125053800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:125056000-125056200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:125056200-125056600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:125056600-125056800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:125058000-125058400	Enhancers	Gastric	stomach
17	chr2:125067000-125068000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:125067200-125067400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:125067200-125068000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:125072600-125073000	Enhancers	Stomach Smooth Muscle	stomach
21	chr2:125073000-125081000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr2:125075400-125075800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr2:125075400-125076800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:125075600-125075800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr2:125075600-125075800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:125075800-125077600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr2:125076400-125076600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr2:125076600-125077000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr2:125076800-125078800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:125077000-125077400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:125077400-125078200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr2:125077600-125077800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr2:125077800-125083600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr2:125078200-125080600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:125078400-125078800	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr2:125078800-125079000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:125078800-125083400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr2:125080600-125081400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr2:125080800-125081200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:125081000-125081400	Enhancers	Stomach Smooth Muscle	stomach
41	chr2:125081200-125083200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:125083200-125083400	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr2:125083200-125084200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:125083200-125084400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:125083400-125083800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:125083400-125083800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr2:125083400-125084200	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr2:125083400-125085400	Enhancers	H1 Cell Line	embryonic stem cell
49	chr2:125083600-125083800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr2:125083600-125084000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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