Variant report

Variant	nsv973964
Chromosome Location	chr12:60590829-60598024
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:60591422..60593897-chr12:60595165..60597772,2	K562	blood:
2	chr12:60578463..60581304-chr12:60589839..60591581,2	MCF-7	breast:
3	chr12:60591422..60593897-chr12:60595165..60597772,2	K562	blood:

Extended variants
information (count: 242 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:242 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148410082	chr12:60590840-60590841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555805144	chr12:60590882-60590883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142502047	chr12:60590896-60590897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575493509	chr12:60590905-60590906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555173026	chr12:60590916-60590917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569662051	chr12:60590930-60590931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574919026	chr12:60590931-60590932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79355221	chr12:60590934-60590935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371996151	chr12:60590938-60590939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147755901	chr12:60590947-60590948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141018190	chr12:60591043-60591044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183529046	chr12:60591071-60591072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144875911	chr12:60591076-60591077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564653940	chr12:60591088-60591089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571780166	chr12:60591133-60591134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540700802	chr12:60591137-60591138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs970976	chr12:60591159-60591160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
18	rs545614577	chr12:60591228-60591229	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs970975	chr12:60591250-60591251	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs550093160	chr12:60591265-60591266	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs563397553	chr12:60591281-60591282	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs376033550	chr12:60591380-60591381	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs528097209	chr12:60591381-60591382	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs147932008	chr12:60591449-60591450	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs566060630	chr12:60591549-60591550	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs10784033	chr12:60591563-60591564	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs548384207	chr12:60591565-60591566	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs186780189	chr12:60591579-60591580	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs372551267	chr12:60591701-60591702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568952587	chr12:60591707-60591708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529054765	chr12:60591723-60591724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111265825	chr12:60591725-60591726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537203034	chr12:60591735-60591736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71080433	chr12:60591747-60591748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141714049	chr12:60591764-60591765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577087092	chr12:60591785-60591786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538269364	chr12:60591786-60591787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558156319	chr12:60591850-60591851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571689827	chr12:60591863-60591864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74096915	chr12:60591964-60591965	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs17666625	chr12:60592014-60592015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
42	rs183429116	chr12:60592037-60592038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543220950	chr12:60592047-60592048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112796050	chr12:60592054-60592055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563599669	chr12:60592166-60592167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145240499	chr12:60592237-60592238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570698327	chr12:60592272-60592273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546104961	chr12:60592275-60592276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149149600	chr12:60592294-60592295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187753372	chr12:60592308-60592309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60586000-60603400	Weak transcription	HMEC	breast
2	chr12:60589000-60591000	Weak transcription	NHEK	skin
3	chr12:60589000-60592000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:60589200-60595400	Weak transcription	NHDF-Ad	bronchial
5	chr12:60589200-60595800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:60589200-60598200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:60589600-60593400	Weak transcription	K562	blood
8	chr12:60590600-60591000	Enhancers	H9 Cell Line	embryonic stem cell
9	chr12:60590600-60591800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:60590600-60592200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr12:60591000-60591200	Enhancers	A549	lung
12	chr12:60591000-60591600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr12:60591000-60591600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:60591000-60591800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr12:60591200-60591400	Enhancers	NHEK	skin
16	chr12:60591200-60591600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr12:60591200-60591600	Flanking Active TSS	A549	lung
18	chr12:60591200-60592200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr12:60591600-60592200	Enhancers	A549	lung
20	chr12:60591600-60595800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:60591800-60592200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr12:60591800-60593400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:60592000-60592200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:60592200-60593600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:60592200-60599000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr12:60593400-60594400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:60593800-60594000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr12:60594200-60594400	Enhancers	Fetal Heart	heart
29	chr12:60594400-60595000	Weak transcription	Fetal Heart	heart
30	chr12:60594400-60595800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:60595000-60595200	Enhancers	Fetal Heart	heart
32	chr12:60595200-60595800	Weak transcription	Fetal Heart	heart
33	chr12:60595400-60596600	Enhancers	NHDF-Ad	bronchial
34	chr12:60595600-60595800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:60595800-60596000	Enhancers	NHLF	lung
36	chr12:60595800-60596600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:60595800-60596600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:60595800-60596600	Enhancers	Fetal Heart	heart
39	chr12:60595800-60596800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:60595800-60600200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:60596000-60597800	Weak transcription	NHLF	lung
42	chr12:60596600-60596800	Weak transcription	NHDF-Ad	bronchial
43	chr12:60596600-60599200	Weak transcription	Fetal Heart	heart
44	chr12:60596800-60597400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:60597000-60597200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:60597200-60599000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:60597800-60600000	Enhancers	NHLF	lung

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