Variant report

Variant	nsv511495
Chromosome Location	chr12:60518599-60541932
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:60535718..60536628-chr12:60888012..60888523,2	MCF-7	breast:
2	chr12:60532105..60534089-chr12:60535432..60537757,2	K562	blood:
3	chr12:60540346..60541953-chr12:60546209..60549149,2	MCF-7	breast:
4	chr12:60541351..60544237-chr12:60546904..60548454,2	K562	blood:
5	chr12:60532105..60534089-chr12:60535432..60537757,2	K562	blood:
6	chr12:60540647..60543131-chr12:62652569..62655278,2	K562	blood:
7	chr12:60539977..60540691-chr18:58172003..58172727,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135655	chromatin interactions
ENSG00000198673	chromatin interactions

Extended variants
information (count: 555 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:555 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10747866	chr12:60518599-60518600	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192234158	chr12:60518602-60518603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541027803	chr12:60518607-60518608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149304725	chr12:60518618-60518619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75853169	chr12:60518684-60518685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543491368	chr12:60518697-60518698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563576939	chr12:60518723-60518724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532536887	chr12:60518724-60518725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141476231	chr12:60518811-60518812	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552452281	chr12:60518812-60518813	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7962074	chr12:60518816-60518817	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs200719003	chr12:60518824-60518825	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7977065	chr12:60518842-60518843	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs182638633	chr12:60518868-60518869	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187766454	chr12:60518879-60518880	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114655574	chr12:60518925-60518926	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536385122	chr12:60518965-60518966	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556259326	chr12:60519013-60519014	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569887117	chr12:60519037-60519038	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538791727	chr12:60519081-60519082	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558823900	chr12:60519087-60519088	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143548350	chr12:60519112-60519113	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541316506	chr12:60519193-60519194	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554696081	chr12:60519231-60519232	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574761718	chr12:60519281-60519282	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543527904	chr12:60519296-60519297	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563393620	chr12:60519297-60519298	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532573523	chr12:60519320-60519321	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551053640	chr12:60519341-60519342	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138052859	chr12:60519403-60519404	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559892040	chr12:60519422-60519423	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528810622	chr12:60519536-60519537	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548846778	chr12:60519577-60519578	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7297367	chr12:60519603-60519604	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs147154126	chr12:60519634-60519635	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549906450	chr12:60519659-60519660	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191794584	chr12:60519674-60519675	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538729731	chr12:60519686-60519687	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552134637	chr12:60519714-60519715	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113679274	chr12:60519715-60519716	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566517973	chr12:60519716-60519717	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565847736	chr12:60519758-60519759	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528898409	chr12:60519846-60519847	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7300765	chr12:60519886-60519887	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs7300783	chr12:60519982-60519983	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs574517151	chr12:60520029-60520030	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537005493	chr12:60520030-60520031	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556925356	chr12:60520141-60520142	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569188712	chr12:60520148-60520149	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369032070	chr12:60520196-60520197	ZNF genes & repeats 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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60516200-60518800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:60517800-60523600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:60518800-60520200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:60519000-60519800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr12:60519000-60520600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr12:60519400-60520400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
7	chr12:60519800-60520400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:60531000-60531800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:60531200-60531800	Enhancers	A549	lung
10	chr12:60531200-60532000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:60532000-60536800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:60533200-60533400	Enhancers	Aorta	Aorta
13	chr12:60534400-60535000	Enhancers	Small Intestine	intestine
14	chr12:60535000-60535400	Enhancers	K562	blood
15	chr12:60535400-60537000	Weak transcription	K562	blood
16	chr12:60536800-60540600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:60537000-60537200	Enhancers	K562	blood
18	chr12:60537000-60540000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:60537200-60537600	Weak transcription	K562	blood
20	chr12:60537400-60538200	Enhancers	Primary hematopoietic stem cells	blood
21	chr12:60537600-60537800	Enhancers	K562	blood
22	chr12:60537800-60538200	Flanking Active TSS	K562	blood
23	chr12:60538200-60538400	Enhancers	K562	blood
24	chr12:60538200-60539000	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr12:60538400-60538600	Flanking Active TSS	K562	blood
26	chr12:60538600-60538800	Enhancers	K562	blood
27	chr12:60538800-60540000	Weak transcription	K562	blood
28	chr12:60540000-60540400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:60540000-60540600	Enhancers	K562	blood
30	chr12:60540000-60542800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:60540200-60541800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:60540200-60542600	Enhancers	NHDF-Ad	bronchial
33	chr12:60540400-60540600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:60540400-60542000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:60540400-60543400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:60540600-60541600	Weak transcription	K562	blood
37	chr12:60540600-60541800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:60540600-60542400	Enhancers	NHLF	lung
39	chr12:60541200-60542600	Enhancers	Muscle Satellite Cultured Cells	--
40	chr12:60541400-60542000	Enhancers	NH-A	brain
41	chr12:60541400-60542400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:60541400-60542800	Enhancers	HMEC	breast
43	chr12:60541400-60542800	Enhancers	HUVEC	blood vessel
44	chr12:60541400-60542800	Enhancers	NHEK	skin
45	chr12:60541400-60543000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:60541600-60542000	Enhancers	HSMM	muscle
47	chr12:60541600-60542200	Flanking Active TSS	K562	blood
48	chr12:60541600-60542600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:60541600-60542600	Enhancers	Hela-S3	cervix
50	chr12:60541800-60542000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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