Variant report

Variant	nsv1051709
Chromosome Location	chr12:39846990-39899051
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:390)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:390 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:39870885-39870932	K562	blood:	n/a	n/a
2	ARID3A	chr12:39884993-39885007	K562	blood:	n/a	n/a
3	ARID3A	chr12:39848930-39849020	K562	blood:	n/a	n/a
4	ATF1	chr12:39861151-39861342	K562	blood:	n/a	n/a
5	ATF1	chr12:39870962-39871125	K562	blood:	n/a	n/a
6	ATF1	chr12:39852846-39853261	K562	blood:	n/a	n/a
7	ATF1	chr12:39884692-39884945	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	chr12:39897331-39897506	K562	blood:	n/a	n/a
11	ATF3	chr12:39852802-39853145	K562	blood:	n/a	n/a
12	ATF3	chr12:39853035-39853260	K562	blood:	n/a	n/a
13	BATF	chr12:39861093-39861599	GM12878	blood:	n/a	n/a
14	BATF	chr12:39861167-39861548	GM12878	blood:	n/a	n/a
15	BCL11A	chr12:39861200-39861574	GM12878	blood:	n/a	n/a
16	BCL3	chr12:39861047-39861590	GM12878	blood:	n/a	n/a
17	BCLAF1	chr12:39861085-39861617	GM12878	blood:	n/a	n/a
18	BHLHE40	chr12:39885075-39885179	K562	blood:	n/a	n/a
19	BHLHE40	chr12:39852791-39853263	K562	blood:	n/a	n/a
20	CBX3	chr12:39897182-39897623	HCT-116	colon:	n/a	n/a
21	CBX3	chr12:39852814-39853195	K562	blood:	n/a	n/a
22	CCNT2	chr12:39893132-39893426	K562	blood:	n/a	n/a
23	CCNT2	chr12:39870797-39870983	K562	blood:	n/a	n/a
24	CEBPB	chr12:39884374-39885129	A549	lung:	n/a	chr12:39884848-39884861
25	CEBPB	chr12:39897243-39897577	A549	lung:	n/a	chr12:39897354-39897365 chr12:39897354-39897367 chr12:39897354-39897365 chr12:39897354-39897367
26	CEBPB	chr12:39850906-39851089	HepG2	liver:	n/a	chr12:39851043-39851054
27	CEBPB	chr12:39858967-39859072	HepG2	liver:	n/a	n/a
28	CEBPB	chr12:39884647-39885194	Hela-S3	cervix:	n/a	chr12:39884848-39884861
29	CEBPB	chr12:39897157-39897664	A549	lung:	n/a	chr12:39897354-39897365 chr12:39897354-39897367 chr12:39897354-39897365 chr12:39897354-39897367
30	CEBPB	chr12:39883361-39883561	K562	blood:	n/a	chr12:39883481-39883492
31	CEBPB	chr12:39884698-39885192	A549	lung:	n/a	chr12:39884848-39884861
32	CEBPB	chr12:39884676-39885043	K562	blood:	n/a	chr12:39884848-39884861
33	CEBPB	chr12:39884718-39885008	HepG2	liver:	n/a	chr12:39884848-39884861
34	CEBPB	chr12:39858829-39859156	A549	lung:	n/a	n/a
35	CEBPB	chr12:39883393-39883494	HepG2	liver:	n/a	chr12:39883481-39883492
36	CEBPB	chr12:39861930-39862130	HepG2	liver:	n/a	chr12:39862011-39862022
37	CEBPB	chr12:39897167-39897594	Hela-S3	cervix:	n/a	chr12:39897354-39897365 chr12:39897354-39897367 chr12:39897354-39897365 chr12:39897354-39897367
38	CEBPB	chr12:39861026-39861766	GM12878	blood:	n/a	n/a
39	CEBPD	chr12:39870684-39871149	K562	blood:	n/a	n/a
40	CHD2	chr12:39884706-39885090	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr12:39870040-39870190	GM06990	blood:	n/a	n/a
42	CTCF	chr12:39852942-39853004	LNCaP	prostate:	n/a	n/a
43	CTCF	chr12:39870020-39870170	HCT-116	colon:	n/a	n/a
44	CTCF	chr12:39897360-39897510	MCF-7	breast:	n/a	n/a
45	CTCF	chr12:39897360-39897510	HMF	breast:	n/a	n/a
46	CTCF	chr12:39897360-39897510	BE2_C	brain:	n/a	n/a
47	CTCF	chr12:39897380-39897530	GM12872	blood:	n/a	n/a
48	CTCF	chr12:39870080-39870230	A549	lung:	n/a	n/a
49	CTCF	chr12:39897360-39897510	HEEpiC	esophagus:	n/a	n/a
50	CTCF	chr12:39870060-39870210	MCF-7	breast:	n/a	n/a

No data

(count:27 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 1445 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1445 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117774766	chr12:39847043-39847044	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs547343442	chr12:39847044-39847045	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs145691474	chr12:39847052-39847053	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs371621356	chr12:39847055-39847056	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs138935461	chr12:39847060-39847061	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs557573913	chr12:39847081-39847082	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs113166546	chr12:39847086-39847087	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs577000357	chr12:39847105-39847106	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs537281109	chr12:39847241-39847242	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs11610863	chr12:39847264-39847265	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs11172183	chr12:39847309-39847310	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs574010264	chr12:39847314-39847315	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs11832115	chr12:39847318-39847319	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs540988915	chr12:39847337-39847338	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs559369625	chr12:39847354-39847355	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs529764945	chr12:39847359-39847360	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs576306264	chr12:39847360-39847361	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs559663624	chr12:39847384-39847385	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs571156274	chr12:39847398-39847399	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs373454435	chr12:39847412-39847413	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs563672016	chr12:39847420-39847421	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs186431398	chr12:39847428-39847429	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs374609970	chr12:39847435-39847436	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs549195546	chr12:39847442-39847443	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs376413103	chr12:39847461-39847462	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs561169749	chr12:39847516-39847517	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs528727756	chr12:39847519-39847520	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs546988405	chr12:39847558-39847559	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs565862865	chr12:39847570-39847571	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs539110752	chr12:39847573-39847574	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs539529433	chr12:39847584-39847585	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs569798698	chr12:39847622-39847623	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs370281230	chr12:39847623-39847624	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs537219767	chr12:39847650-39847651	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs192325022	chr12:39847668-39847669	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs79423855	chr12:39847697-39847698	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs116463966	chr12:39847698-39847699	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs181920417	chr12:39847709-39847710	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs552995080	chr12:39847718-39847719	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs376593759	chr12:39847723-39847724	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs545106896	chr12:39847733-39847734	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs74755643	chr12:39847749-39847750	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs186161944	chr12:39847763-39847764	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs542731288	chr12:39847789-39847790	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs190633522	chr12:39847815-39847816	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs80140299	chr12:39847870-39847871	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs540920992	chr12:39847884-39847885	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs565477333	chr12:39847886-39847887	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs532923680	chr12:39847906-39847907	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs551116435	chr12:39847950-39847951	Weak transcription	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:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39843600-39847200	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr12:39843800-39847200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:39844600-39847200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr12:39844800-39847000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr12:39844800-39847200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr12:39845400-39847000	Enhancers	Brain Germinal Matrix	brain
7	chr12:39846000-39847000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:39846200-39847400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr12:39846400-39847200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr12:39846400-39847200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr12:39846600-39847000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr12:39847200-39849800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:39849800-39850000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:39850600-39850800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:39850800-39852800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:39852800-39853000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:39852800-39853400	Enhancers	K562	blood
18	chr12:39854600-39858800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:39857200-39860800	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr12:39858600-39858800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:39858800-39859200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:39858800-39859800	Enhancers	Fetal Brain Female	brain
23	chr12:39859000-39859200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:39859000-39859400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:39859200-39861000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:39859400-39859600	Enhancers	Fetal Brain Male	brain
27	chr12:39859600-39860800	Weak transcription	Fetal Brain Male	brain
28	chr12:39860600-39862400	Enhancers	Primary T cells fromperipheralblood	blood
29	chr12:39860800-39861200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr12:39860800-39861200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr12:39860800-39861200	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr12:39860800-39861200	Enhancers	Fetal Brain Male	brain
33	chr12:39860800-39861400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr12:39860800-39861400	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr12:39860800-39861400	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr12:39860800-39861800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr12:39860800-39862400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:39860800-39862600	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr12:39861000-39861200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr12:39861000-39861200	Enhancers	GM12878-XiMat	blood
41	chr12:39861000-39861400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr12:39861000-39861600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr12:39861000-39862200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr12:39861200-39861400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr12:39861200-39861600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr12:39861200-39861800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr12:39861200-39861800	Active TSS	Duodenum Mucosa	Duodenum
48	chr12:39861200-39862000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr12:39861200-39862000	Flanking Active TSS	GM12878-XiMat	blood
50	chr12:39861400-39861600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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