Variant report

Variant	nsv983465
Chromosome Location	chr12:60721408-60752940
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr12:60731763-60731980	K562	blood:	n/a	n/a
2	BACH1	chr12:60731724-60732022	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr12:60751445-60751625	A549	lung:	n/a	n/a
4	CEBPB	chr12:60730855-60731013	A549	lung:	n/a	n/a
5	CEBPB	chr12:60748560-60748789	A549	lung:	n/a	chr12:60748662-60748673
6	CEBPB	chr12:60745235-60745979	HepG2	liver:	n/a	chr12:60745373-60745384
7	CEBPB	chr12:60745243-60745908	A549	lung:	n/a	chr12:60745373-60745384
8	CEBPB	chr12:60748032-60748232	K562	blood:	n/a	chr12:60748131-60748142
9	CEBPB	chr12:60745807-60745900	K562	blood:	n/a	n/a
10	CEBPB	chr12:60748638-60748811	HepG2	liver:	n/a	chr12:60748662-60748673
11	CEBPB	chr12:60747969-60748324	HepG2	liver:	n/a	chr12:60748131-60748142
12	CEBPB	chr12:60748119-60748245	H1-hESC	embryonic stem cell:	n/a	chr12:60748131-60748142
13	CEBPB	chr12:60745247-60745463	IMR90	lung:	n/a	chr12:60745373-60745384
14	CEBPB	chr12:60747972-60748293	A549	lung:	n/a	chr12:60748131-60748142
15	CEBPB	chr12:60747990-60748294	Hela-S3	cervix:	n/a	chr12:60748131-60748142
16	CEBPB	chr12:60747999-60748350	MCF-7	breast:	n/a	chr12:60748131-60748142
17	CEBPB	chr12:60745694-60746005	IMR90	lung:	n/a	n/a
18	CEBPB	chr12:60747965-60748281	IMR90	lung:	n/a	chr12:60748131-60748142
19	CTCF	chr12:60736360-60736510	AG04450	lung:	n/a	n/a
20	CTCF	chr12:60736360-60736510	AG04449	skin:	n/a	n/a
21	CTCF	chr12:60736280-60736430	HRE	kidney:	n/a	n/a
22	CTCF	chr12:60742439-60742494	GM13976	blood:	n/a	n/a
23	CTCF	chr12:60736280-60736430	AG04449	skin:	n/a	n/a
24	CTCF	chr12:60736240-60736390	HMEC	breast:	n/a	n/a
25	CTCF	chr12:60729700-60729850	AG04449	skin:	n/a	n/a
26	CTCF	chr12:60736260-60736410	A549	lung:	n/a	n/a
27	CTCF	chr12:60736280-60736430	AG10803	skin:	n/a	n/a
28	CTCF	chr12:60736220-60736370	HMEC	breast:	n/a	n/a
29	E2F4	chr12:60727265-60727294	MCF10A-Er-Src	breast:	n/a	n/a
30	E2F4	chr12:60729539-60729883	MCF10A-Er-Src	breast:	n/a	n/a
31	EBF1	chr12:60749322-60749359	GM12878	blood:	n/a	n/a
32	EP300	chr12:60748127-60748148	Hela-S3	cervix:	n/a	chr12:60748128-60748142
33	FOS	chr12:60729562-60729915	MCF10A-Er-Src	breast:	n/a	chr12:60729724-60729735
34	FOS	chr12:60729561-60729929	MCF10A-Er-Src	breast:	n/a	chr12:60729724-60729735
35	FOS	chr12:60739257-60739424	HUVEC	blood vessel:	n/a	n/a
36	FOS	chr12:60739289-60739545	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr12:60729561-60729908	MCF10A-Er-Src	breast:	n/a	chr12:60729724-60729735
38	FOS	chr12:60739244-60739569	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr12:60739292-60739548	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr12:60739244-60739584	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr12:60729559-60729915	MCF10A-Er-Src	breast:	n/a	chr12:60729724-60729735
42	FOS	chr12:60729543-60729937	HUVEC	blood vessel:	n/a	chr12:60729724-60729735
43	FOS	chr12:60727322-60727662	HUVEC	blood vessel:	n/a	n/a
44	FOSL2	chr12:60729404-60729998	A549	lung:	n/a	n/a
45	FOSL2	chr12:60739276-60739633	MCF-7	breast:	n/a	n/a
46	FOSL2	chr12:60729559-60729848	A549	lung:	n/a	n/a
47	GATA2	chr12:60727198-60727732	HUVEC	blood vessel:	n/a	chr12:60727438-60727452 chr12:60727555-60727565
48	GATA2	chr12:60729467-60729920	HUVEC	blood vessel:	n/a	n/a
49	GATA3	chr12:60727150-60727536	MCF-7	breast:	n/a	chr12:60727442-60727450
50	GATA3	chr12:60727181-60727949	MCF-7	breast:	n/a	chr12:60727555-60727565 chr12:60727442-60727450

No.	Distal block	Cell Line	Cell type
1	chr12:60721131..60724243-chr12:60726194..60729736,3	K562	blood:
2	chr1:10674613..10675133-chr12:60739009..60739528,2	MCF-7	breast:
3	chr12:60731984..60734380-chr12:60739719..60741261,2	K562	blood:
4	chr12:60722175..60722841-chr6:139511728..139512567,2	MCF-7	breast:
5	chr12:60722184..60725266-chr12:60727493..60729736,3	K562	blood:
6	chr12:60752778..60755096-chr12:60757481..60759676,2	K562	blood:
7	chr12:60721131..60724243-chr12:60726194..60729736,3	K562	blood:
8	chr12:60722184..60725266-chr12:60727493..60729736,3	K562	blood:
9	chr12:60731984..60734380-chr12:60739719..60741261,2	K562	blood:
10	chr12:60728334..60729912-chr12:60733867..60736379,2	MCF-7	breast:
11	chr12:60709731..60712720-chr12:60740536..60742058,2	K562	blood:
12	chr12:60724566..60726838-chr12:60734239..60736378,2	K562	blood:
13	chr12:60733477..60735861-chr12:60737508..60740002,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251822	TF binding region
ENSG00000252607	TF binding region
ENSG00000251822	chromatin interactions
ENSG00000252607	chromatin interactions

Extended variants
information (count: 702 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:702 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529181385	chr12:60721611-60721612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139680238	chr12:60721652-60721653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7968422	chr12:60721671-60721672	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs149544945	chr12:60721672-60721673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191435287	chr12:60721718-60721719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184192164	chr12:60721736-60721737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552814885	chr12:60721765-60721766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566512892	chr12:60721781-60721782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370326053	chr12:60721840-60721841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375004152	chr12:60721889-60721890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535297804	chr12:60721910-60721911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs80312921	chr12:60721941-60721942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144130399	chr12:60721945-60721946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189397860	chr12:60722029-60722030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557765847	chr12:60722068-60722069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140552249	chr12:60722088-60722089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562720912	chr12:60722267-60722268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540596834	chr12:60722305-60722306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560386881	chr12:60722315-60722316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192762642	chr12:60722343-60722344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542893988	chr12:60722345-60722346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78118948	chr12:60722452-60722453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532076326	chr12:60722483-60722484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531357058	chr12:60722531-60722532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552117776	chr12:60722558-60722559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571940935	chr12:60722562-60722563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs11614954	chr12:60722564-60722565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532790272	chr12:60722575-60722576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546532635	chr12:60722600-60722601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532387578	chr12:60722619-60722620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566484845	chr12:60722639-60722640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551548417	chr12:60722662-60722663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535529658	chr12:60722684-60722685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147814094	chr12:60722703-60722704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115510260	chr12:60722721-60722722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs139577622	chr12:60722757-60722758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184873962	chr12:60722831-60722832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142549664	chr12:60722856-60722857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540277866	chr12:60722873-60722874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7975549	chr12:60722910-60722911	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs527767997	chr12:60722937-60722938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574098798	chr12:60722946-60722947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543126972	chr12:60722956-60722957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs75166854	chr12:60722959-60722960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189097039	chr12:60722960-60722961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181405522	chr12:60722973-60722974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138079057	chr12:60722974-60722975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189079391	chr12:60723016-60723017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186276106	chr12:60723018-60723019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565584733	chr12:60723039-60723040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60721600-60722000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:60721800-60723200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:60722000-60722400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:60722200-60723000	Enhancers	NHEK	skin
5	chr12:60722400-60722600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:60722600-60726800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:60726600-60728000	Enhancers	Hela-S3	cervix
8	chr12:60726600-60730200	Enhancers	HUVEC	blood vessel
9	chr12:60726800-60727000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:60727000-60727400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:60727200-60727600	Enhancers	A549	lung
12	chr12:60727400-60727600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:60727600-60729000	Weak transcription	A549	lung
14	chr12:60727600-60729400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:60728000-60729200	Weak transcription	Hela-S3	cervix
16	chr12:60729000-60729400	Enhancers	A549	lung
17	chr12:60729200-60729800	Enhancers	NH-A	brain
18	chr12:60729200-60730000	Enhancers	Hela-S3	cervix
19	chr12:60729200-60730000	Enhancers	NHEK	skin
20	chr12:60729400-60729800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:60729400-60729800	Enhancers	Placenta Amnion	Placenta Amnion
22	chr12:60729400-60730000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:60729400-60730000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:60729400-60730000	Flanking Active TSS	A549	lung
25	chr12:60729400-60730000	Enhancers	HMEC	breast
26	chr12:60729600-60730000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr12:60729600-60730000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:60739200-60739600	Enhancers	NHEK	skin
29	chr12:60739200-60740000	Enhancers	HMEC	breast
30	chr12:60739400-60740000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:60739800-60740000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:60740000-60743000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:60742000-60742800	Enhancers	Fetal Heart	heart
34	chr12:60743000-60743200	Enhancers	Placenta Amnion	Placenta Amnion
35	chr12:60743000-60743400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:60743800-60744000	Enhancers	Placenta Amnion	Placenta Amnion
37	chr12:60750000-60750400	Enhancers	Fetal Intestine Large	intestine
38	chr12:60750400-60750800	Weak transcription	Fetal Intestine Large	intestine
39	chr12:60750800-60753000	Enhancers	Fetal Intestine Large	intestine

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