Variant report

Variant	nsv524513
Chromosome Location	chr12:42886217-42895401
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	BATF	chr12:42890786-42890997	GM12878	blood:	n/a	n/a
2	BATF	chr12:42890784-42890938	GM12878	blood:	n/a	n/a
3	CEBPB	chr12:42889082-42889409	IMR90	lung:	n/a	n/a
4	CEBPB	chr12:42889051-42889397	K562	blood:	n/a	n/a
5	CEBPB	chr12:42889084-42889428	MCF-7	breast:	n/a	n/a
6	CEBPB	chr12:42889129-42889390	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr12:42892704-42892995	IMR90	lung:	n/a	n/a
8	CEBPB	chr12:42889119-42889357	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr12:42889091-42889416	HepG2	liver:	n/a	n/a
10	CEBPB	chr12:42889072-42889442	ECC-1	luminal epithelium:	n/a	n/a
11	CEBPB	chr12:42889042-42889404	A549	lung:	n/a	n/a
12	CTCF	chr12:42892720-42892870	GM06990	blood:	n/a	n/a
13	CTCF	chr12:42892061-42892071	GM20000	blood:	n/a	n/a
14	CTCF	chr12:42895057-42895140	GM13976	blood:	n/a	n/a
15	CTCF	chr12:42892073-42892118	GM20000	blood:	n/a	n/a
16	ELK1	chr12:42894776-42894831	GM12878	blood:	n/a	n/a
17	FOS	chr12:42889190-42889236	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr12:42892749-42892949	MCF10A-Er-Src	breast:	n/a	chr12:42892810-42892817 chr12:42892808-42892818 chr12:42892832-42892841 chr12:42892809-42892817 chr12:42892809-42892817 chr12:42892808-42892818
19	FOS	chr12:42892782-42893002	MCF10A-Er-Src	breast:	n/a	chr12:42892810-42892817 chr12:42892808-42892818 chr12:42892832-42892841 chr12:42892809-42892817 chr12:42892809-42892817 chr12:42892808-42892818
20	FOS	chr12:42892801-42892872	MCF10A-Er-Src	breast:	n/a	chr12:42892810-42892817 chr12:42892808-42892818 chr12:42892832-42892841 chr12:42892809-42892817 chr12:42892809-42892817 chr12:42892808-42892818
21	FOS	chr12:42892796-42892877	MCF10A-Er-Src	breast:	n/a	chr12:42892810-42892817 chr12:42892808-42892818 chr12:42892832-42892841 chr12:42892809-42892817 chr12:42892809-42892817 chr12:42892808-42892818
22	JUND	chr12:42892748-42892933	HepG2	liver:	n/a	chr12:42892810-42892817 chr12:42892808-42892818 chr12:42892832-42892841 chr12:42892809-42892817 chr12:42892807-42892818 chr12:42892809-42892817 chr12:42892808-42892818
23	MAX	chr12:42891445-42891690	NB4	blood:	n/a	chr12:42891536-42891546
24	MAX	chr12:42891476-42891736	K562	blood:	n/a	chr12:42891536-42891546
25	MYC	chr12:42891594-42891716	MCF-7	breast:	n/a	n/a
26	POLR2A	chr12:42893681-42893700	GM12878	blood:	n/a	n/a
27	POLR2A	chr12:42891367-42891458	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr12:42894519-42894719	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr12:42890731-42890734	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr12:42894579-42894722	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr12:42889949-42890043	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr12:42890820-42890834	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr12:42890531-42890551	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr12:42887521-42887607	MCF-7	breast:	n/a	n/a
35	POLR2A	chr12:42888818-42888843	Gliobla	brain:	n/a	n/a
36	POLR2A	chr12:42891610-42891726	A549	lung:	n/a	n/a
37	POLR2A	chr12:42893309-42893382	ProgFib	skin:	n/a	n/a
38	POLR2A	chr12:42892467-42892567	HUVEC	blood vessel:	n/a	n/a
39	ZNF384	chr12:42889088-42889352	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZCRB1-1	chr12:42892664-42892759	NONHSAT027783

Variant related genes	Relation type
ENSG00000258068	TF binding region

Extended variants
information (count: 370 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:370 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1669925	chr12:42886217-42886218	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs562009826	chr12:42886246-42886247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184091123	chr12:42886266-42886267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541044430	chr12:42886279-42886280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs56691329	chr12:42886291-42886292	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs527572255	chr12:42886391-42886392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12319444	chr12:42886396-42886397	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs150758711	chr12:42886403-42886404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531368107	chr12:42886442-42886443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187415300	chr12:42886570-42886571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375049130	chr12:42886664-42886665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs59510334	chr12:42886709-42886710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139143407	chr12:42886715-42886716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs17091271	chr12:42886746-42886747	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs566420136	chr12:42886766-42886767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540142348	chr12:42886826-42886827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558452849	chr12:42886843-42886844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570282365	chr12:42886844-42886845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74238324	chr12:42886848-42886849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12309609	chr12:42886962-42886963	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs559502885	chr12:42887016-42887017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112168274	chr12:42887068-42887069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574035571	chr12:42887084-42887085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541456293	chr12:42887135-42887136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1669926	chr12:42887233-42887234	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs191421900	chr12:42887251-42887252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12302804	chr12:42887274-42887275	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs564010602	chr12:42887349-42887350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7301146	chr12:42887359-42887360	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs12309863	chr12:42887405-42887406	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs528975317	chr12:42887451-42887452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577278556	chr12:42887454-42887455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183091542	chr12:42887457-42887458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1669927	chr12:42887479-42887480	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs556543625	chr12:42887531-42887532	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs386762519	chr12:42887533-42887534	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs55962740	chr12:42887535-42887536	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs376745618	chr12:42887543-42887544	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs144168605	chr12:42887564-42887565	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs201413394	chr12:42887659-42887660	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555674554	chr12:42887712-42887713	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12311369	chr12:42887721-42887722	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs534816986	chr12:42887756-42887757	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112253432	chr12:42887757-42887758	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12317555	chr12:42887796-42887797	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs12317568	chr12:42887852-42887853	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs146511874	chr12:42887860-42887861	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557661659	chr12:42887866-42887867	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145000835	chr12:42887878-42887879	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564801426	chr12:42887885-42887886	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42878400-42888800	Weak transcription	Fetal Muscle Leg	muscle
2	chr12:42878600-42889000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr12:42878600-42892600	Weak transcription	Right Ventricle	heart
4	chr12:42878600-42904800	Weak transcription	Right Atrium	heart
5	chr12:42878800-42896400	Weak transcription	Fetal Kidney	kidney
6	chr12:42878800-42898000	Weak transcription	HSMMtube	muscle
7	chr12:42878800-42902000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:42879000-42887600	Weak transcription	Osteobl	bone
9	chr12:42879000-42898000	Weak transcription	NH-A	brain
10	chr12:42879000-42901000	Weak transcription	HSMM	muscle
11	chr12:42879200-42888800	Weak transcription	Fetal Stomach	stomach
12	chr12:42880800-42889200	Weak transcription	HUVEC	blood vessel
13	chr12:42881000-42890200	Weak transcription	Fetal Lung	lung
14	chr12:42881400-42889800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:42881600-42886400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:42884200-42896200	Weak transcription	Lung	lung
17	chr12:42884600-42888800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:42885400-42913600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:42885800-42887800	Enhancers	Fetal Heart	heart
20	chr12:42886200-42886800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:42886400-42886600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:42886400-42891600	Weak transcription	Colon Smooth Muscle	Colon
23	chr12:42886400-42892800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:42886600-42889000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:42886800-42904800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:42887600-42890600	Strong transcription	Osteobl	bone
27	chr12:42887800-42888200	Genic enhancers	Fetal Heart	heart
28	chr12:42888200-42892600	Weak transcription	Fetal Heart	heart
29	chr12:42888800-42889200	Strong transcription	Fetal Muscle Leg	muscle
30	chr12:42888800-42889400	Strong transcription	Fetal Stomach	stomach
31	chr12:42888800-42890000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:42889000-42889800	Strong transcription	Fetal Muscle Trunk	muscle
33	chr12:42889000-42891000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:42889200-42890000	Weak transcription	Fetal Muscle Leg	muscle
35	chr12:42889200-42891000	Strong transcription	HUVEC	blood vessel
36	chr12:42889400-42898000	Weak transcription	Fetal Stomach	stomach
37	chr12:42889800-42890800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:42889800-42902800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr12:42890000-42891000	Strong transcription	Fetal Muscle Leg	muscle
40	chr12:42890000-42898600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr12:42890200-42891000	Strong transcription	Fetal Lung	lung
42	chr12:42890600-42905800	Weak transcription	Osteobl	bone
43	chr12:42890800-42891000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:42891000-42892400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:42891000-42897800	Weak transcription	Fetal Lung	lung
46	chr12:42891000-42898000	Weak transcription	Fetal Muscle Leg	muscle
47	chr12:42891000-42898200	Weak transcription	HUVEC	blood vessel
48	chr12:42891000-42910200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr12:42892400-42893000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:42892600-42892800	Enhancers	Right Ventricle	heart

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