Variant report

Variant	nsv1044049
Chromosome Location	chr12:39845078-39922808
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:469)
CpG islands
(count:0)
Chromatin interactive
region (count:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:469 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:39848930-39849020	K562	blood:	n/a	n/a
2	ARID3A	chr12:39884993-39885007	K562	blood:	n/a	n/a
3	ARID3A	chr12:39870885-39870932	K562	blood:	n/a	n/a
4	ATF1	chr12:39884692-39884945	K562	blood:	n/a	n/a
5	ATF1	chr12:39861151-39861342	K562	blood:	n/a	n/a
6	ATF1	chr12:39870962-39871125	K562	blood:	n/a	n/a
7	ATF1	chr12:39852846-39853261	K562	blood:	n/a	n/a
8	ATF2	chr12:39861004-39861752	GM12878	blood:	n/a	n/a
9	ATF2	chr12:39861088-39861613	GM12878	blood:	n/a	n/a
10	ATF3	chr12:39853035-39853260	K562	blood:	n/a	n/a
11	ATF3	chr12:39897331-39897506	K562	blood:	n/a	n/a
12	ATF3	chr12:39852802-39853145	K562	blood:	n/a	n/a
13	BACH1	chr12:39917491-39917517	H1-hESC	embryonic stem cell:	n/a	n/a
14	BATF	chr12:39861093-39861599	GM12878	blood:	n/a	n/a
15	BATF	chr12:39861167-39861548	GM12878	blood:	n/a	n/a
16	BCL11A	chr12:39845839-39846038	H1-hESC	embryonic stem cell:	n/a	n/a
17	BCL11A	chr12:39845785-39846147	H1-hESC	embryonic stem cell:	n/a	n/a
18	BCL11A	chr12:39861200-39861574	GM12878	blood:	n/a	n/a
19	BCL3	chr12:39861047-39861590	GM12878	blood:	n/a	n/a
20	BCLAF1	chr12:39861085-39861617	GM12878	blood:	n/a	n/a
21	BHLHE40	chr12:39885075-39885179	K562	blood:	n/a	n/a
22	BHLHE40	chr12:39852791-39853263	K562	blood:	n/a	n/a
23	CBX3	chr12:39897182-39897623	HCT-116	colon:	n/a	n/a
24	CBX3	chr12:39852814-39853195	K562	blood:	n/a	n/a
25	CBX3	chr12:39920612-39920872	K562	blood:	n/a	n/a
26	CCNT2	chr12:39870797-39870983	K562	blood:	n/a	n/a
27	CCNT2	chr12:39893132-39893426	K562	blood:	n/a	n/a
28	CEBPB	chr12:39897157-39897664	A549	lung:	n/a	chr12:39897354-39897365 chr12:39897354-39897367 chr12:39897354-39897365 chr12:39897354-39897367
29	CEBPB	chr12:39909423-39909497	HepG2	liver:	n/a	n/a
30	CEBPB	chr12:39858829-39859156	A549	lung:	n/a	n/a
31	CEBPB	chr12:39883361-39883561	K562	blood:	n/a	chr12:39883481-39883492
32	CEBPB	chr12:39884698-39885192	A549	lung:	n/a	chr12:39884848-39884861
33	CEBPB	chr12:39884374-39885129	A549	lung:	n/a	chr12:39884848-39884861
34	CEBPB	chr12:39850906-39851089	HepG2	liver:	n/a	chr12:39851043-39851054
35	CEBPB	chr12:39861930-39862130	HepG2	liver:	n/a	chr12:39862011-39862022
36	CEBPB	chr12:39884676-39885043	K562	blood:	n/a	chr12:39884848-39884861
37	CEBPB	chr12:39861026-39861766	GM12878	blood:	n/a	n/a
38	CEBPB	chr12:39884647-39885194	Hela-S3	cervix:	n/a	chr12:39884848-39884861
39	CEBPB	chr12:39884718-39885008	HepG2	liver:	n/a	chr12:39884848-39884861
40	CEBPB	chr12:39897243-39897577	A549	lung:	n/a	chr12:39897354-39897365 chr12:39897354-39897367 chr12:39897354-39897365 chr12:39897354-39897367
41	CEBPB	chr12:39883393-39883494	HepG2	liver:	n/a	chr12:39883481-39883492
42	CEBPB	chr12:39897167-39897594	Hela-S3	cervix:	n/a	chr12:39897354-39897365 chr12:39897354-39897367 chr12:39897354-39897365 chr12:39897354-39897367
43	CEBPB	chr12:39858967-39859072	HepG2	liver:	n/a	n/a
44	CEBPD	chr12:39870684-39871149	K562	blood:	n/a	n/a
45	CHD2	chr12:39884706-39885090	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr12:39870942-39870946	GM13976	blood:	n/a	n/a
47	CTCF	chr12:39897420-39897570	HCT-116	colon:	n/a	n/a
48	CTCF	chr12:39870047-39870207	MCF-7	breast:	n/a	n/a
49	CTCF	chr12:39897400-39897550	AG04449	skin:	n/a	n/a
50	CTCF	chr12:39897480-39897630	Hela-S3	cervix:	n/a	n/a

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:39837189..39839293-chr12:39846678..39848641,2	K562	blood:
2	chr12:39891710..39895050-chr12:39895877..39898894,4	K562	blood:
3	chr12:39835374..39837423-chr12:39856668..39858369,2	K562	blood:
4	chr12:39891710..39895050-chr12:39895877..39898894,4	K562	blood:
5	chr12:39887806..39889912-chr12:39892327..39894419,2	K562	blood:
6	chr12:39836535..39839520-chr12:39848057..39851012,2	MCF-7	breast:
7	chr12:39838834..39841587-chr12:39845094..39846761,2	MCF-7	breast:
8	chr12:39845847..39847426-chr12:39847559..39850195,2	MCF-7	breast:
9	chr12:39835157..39838438-chr12:39876568..39883388,6	K562	blood:
10	chr12:39843581..39846257-chr12:39846498..39848624,2	K562	blood:
11	chr12:39838865..39841148-chr12:39868533..39871402,3	K562	blood:
12	chr12:39761081..39763870-chr12:39846385..39848671,2	MCF-7	breast:
13	chr12:39837458..39839438-chr12:39863406..39864910,2	MCF-7	breast:
14	chr12:39851389..39852917-chr12:39854609..39856885,2	K562	blood:
15	chr12:39835345..39837836-chr12:39849615..39851379,2	MCF-7	breast:
16	chr12:39835363..39838062-chr12:39856075..39859606,4	MCF-7	breast:
17	chr12:39846585..39848088-chr12:39850367..39852847,2	K562	blood:
18	chr12:39845847..39847426-chr12:39847559..39850195,2	MCF-7	breast:
19	chr12:39846585..39848088-chr12:39850367..39852847,2	K562	blood:
20	chr12:39851241..39854513-chr12:39858183..39861000,3	MCF-7	breast:
21	chr12:39835374..39838989-chr12:39856195..39860050,4	K562	blood:
22	chr12:39851389..39852917-chr12:39854609..39856885,2	K562	blood:
23	chr12:39843581..39846257-chr12:39846498..39848624,2	K562	blood:
24	chr12:39835845..39837505-chr12:39852520..39854388,2	MCF-7	breast:
25	chr12:39851241..39854513-chr12:39858183..39861000,3	MCF-7	breast:
26	chr12:39887806..39889912-chr12:39892327..39894419,2	K562	blood:
27	chr12:39836009..39838675-chr12:39889597..39892071,2	MCF-7	breast:
28	chr12:39835987..39838839-chr12:39875095..39879250,5	K562	blood:
29	chr12:39834926..39838075-chr12:39898307..39900451,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255991	TF binding region
ENSG00000139116	chromatin interactions
ENSG00000252974	chromatin interactions

Extended variants
information (count: 1874 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1874 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149137394	chr12:39845101-39845102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73094430	chr12:39845215-39845216	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs570358970	chr12:39845308-39845309	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs548781143	chr12:39845310-39845311	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs373966248	chr12:39845311-39845312	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs11172174	chr12:39845353-39845354	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs555711571	chr12:39845365-39845366	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs574108673	chr12:39845397-39845398	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs189063026	chr12:39845401-39845402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553499066	chr12:39845413-39845414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572139950	chr12:39845464-39845465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546014265	chr12:39845468-39845469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115465175	chr12:39845560-39845561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181249969	chr12:39845601-39845602	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs543758566	chr12:39845622-39845623	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs562025199	chr12:39845637-39845638	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs11172175	chr12:39845696-39845697	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs552304395	chr12:39845725-39845726	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs566203347	chr12:39845803-39845804	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533346256	chr12:39845808-39845809	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528212625	chr12:39845912-39845913	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570175271	chr12:39845946-39845947	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143205656	chr12:39846016-39846017	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs555649615	chr12:39846036-39846037	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs534797626	chr12:39846099-39846100	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs7294474	chr12:39846127-39846128	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs546669922	chr12:39846144-39846145	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs553571960	chr12:39846248-39846249	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs535814438	chr12:39846283-39846284	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs534289820	chr12:39846307-39846308	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs60469830	chr12:39846308-39846309	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs397940446	chr12:39846321-39846322	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs570898029	chr12:39846376-39846377	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs572135293	chr12:39846458-39846459	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs545604388	chr12:39846493-39846494	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs557901689	chr12:39846552-39846553	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs73094436	chr12:39846553-39846554	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs557407819	chr12:39846599-39846600	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs373249160	chr12:39846611-39846612	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs376538829	chr12:39846629-39846630	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs372886705	chr12:39846637-39846638	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs541469470	chr12:39846639-39846640	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs559569360	chr12:39846641-39846642	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs189058278	chr12:39846693-39846694	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs181552414	chr12:39846694-39846695	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs374223470	chr12:39846740-39846741	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs551598026	chr12:39846743-39846744	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs563865306	chr12:39846780-39846781	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs112167305	chr12:39846790-39846791	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs78721650	chr12:39846877-39846878	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	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
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22522925	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:176 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39838200-39845800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:39843600-39847200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr12:39843800-39845200	Enhancers	Fetal Brain Female	brain
4	chr12:39843800-39847200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:39844400-39845600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr12:39844600-39846200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr12:39844600-39847200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr12:39844800-39845200	Enhancers	H9 Cell Line	embryonic stem cell
9	chr12:39844800-39846000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr12:39844800-39846000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr12:39844800-39847000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr12:39844800-39847200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr12:39845000-39845200	Enhancers	Brain Germinal Matrix	brain
14	chr12:39845000-39846000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:39845000-39846400	Weak transcription	Fetal Brain Male	brain
16	chr12:39845200-39845400	Flanking Active TSS	Brain Germinal Matrix	brain
17	chr12:39845400-39847000	Enhancers	Brain Germinal Matrix	brain
18	chr12:39845600-39846200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr12:39845800-39846000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr12:39846000-39846400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr12:39846000-39846400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr12:39846000-39846600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr12:39846000-39847000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:39846200-39846400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:39846200-39847400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr12:39846400-39846600	Enhancers	Fetal Brain Male	brain
27	chr12:39846400-39846800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr12:39846400-39846800	Enhancers	Brain Hippocampus Middle	brain
29	chr12:39846400-39847200	Enhancers	H1 Cell Line	embryonic stem cell
30	chr12:39846400-39847200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr12:39846600-39847000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr12:39847200-39849800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:39849800-39850000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:39850600-39850800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:39850800-39852800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:39852800-39853000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:39852800-39853400	Enhancers	K562	blood
38	chr12:39854600-39858800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:39857200-39860800	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr12:39858600-39858800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:39858800-39859200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:39858800-39859800	Enhancers	Fetal Brain Female	brain
43	chr12:39859000-39859200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr12:39859000-39859400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:39859200-39861000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr12:39859400-39859600	Enhancers	Fetal Brain Male	brain
47	chr12:39859600-39860800	Weak transcription	Fetal Brain Male	brain
48	chr12:39860600-39862400	Enhancers	Primary T cells fromperipheralblood	blood
49	chr12:39860800-39861200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr12:39860800-39861200	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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