Variant report

Variant	nsv541453
Chromosome Location	chr12:32008392-32079094
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:733)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:32013397-32013717	HepG2	liver:	n/a	n/a
2	ATF1	chr12:32049547-32049913	K562	blood:	n/a	n/a
3	ATF2	chr12:32028192-32028592	GM12878	blood:	n/a	n/a
4	ATF2	chr12:32043462-32043919	GM12878	blood:	n/a	n/a
5	ATF2	chr12:32012425-32013045	GM12878	blood:	n/a	n/a
6	ATF2	chr12:32049229-32050151	GM12878	blood:	n/a	n/a
7	ATF2	chr12:32049321-32050102	GM12878	blood:	n/a	n/a
8	ATF2	chr12:32039867-32040549	GM12878	blood:	n/a	n/a
9	ATF2	chr12:32012430-32012848	GM12878	blood:	n/a	n/a
10	ATF2	chr12:32028105-32028579	GM12878	blood:	n/a	n/a
11	ATF2	chr12:32059435-32060240	GM12878	blood:	n/a	n/a
12	BATF	chr12:32049356-32049918	GM12878	blood:	n/a	n/a
13	BATF	chr12:32041880-32042149	GM12878	blood:	n/a	n/a
14	BATF	chr12:32028298-32028690	GM12878	blood:	n/a	chr12:32028517-32028528
15	BATF	chr12:32028347-32028606	GM12878	blood:	n/a	chr12:32028517-32028528
16	BATF	chr12:32049428-32049899	GM12878	blood:	n/a	n/a
17	BATF	chr12:32012446-32012948	GM12878	blood:	n/a	chr12:32012663-32012674
18	BATF	chr12:32059572-32060170	GM12878	blood:	n/a	n/a
19	BCL11A	chr12:32040193-32040410	GM12878	blood:	n/a	n/a
20	BCL11A	chr12:32049507-32049881	GM12878	blood:	n/a	n/a
21	BCL11A	chr12:32049416-32049989	GM12878	blood:	n/a	n/a
22	BCL11A	chr12:32040083-32040458	GM12878	blood:	n/a	n/a
23	BCL3	chr12:32049369-32049919	GM12878	blood:	n/a	n/a
24	BCL3	chr12:32012394-32012917	GM12878	blood:	n/a	n/a
25	BCLAF1	chr12:32039797-32040469	GM12878	blood:	n/a	chr12:32039937-32039946
26	BCLAF1	chr12:32049209-32050041	GM12878	blood:	n/a	n/a
27	BCLAF1	chr12:32028251-32028607	GM12878	blood:	n/a	n/a
28	BCLAF1	chr12:32059642-32060136	GM12878	blood:	n/a	n/a
29	BCLAF1	chr12:32012499-32012999	GM12878	blood:	n/a	n/a
30	BCLAF1	chr12:32049270-32049928	GM12878	blood:	n/a	n/a
31	BHLHE40	chr12:32049476-32050175	GM12878	blood:	n/a	n/a
32	BHLHE40	chr12:32049571-32049904	K562	blood:	n/a	n/a
33	BHLHE40	chr12:32048716-32048763	GM12878	blood:	n/a	n/a
34	BHLHE40	chr12:32039961-32040391	GM12878	blood:	n/a	n/a
35	BHLHE40	chr12:32043557-32043864	GM12878	blood:	n/a	n/a
36	BHLHE40	chr12:32012628-32013027	GM12878	blood:	n/a	n/a
37	BHLHE40	chr12:32050871-32051039	K562	blood:	n/a	n/a
38	CBX3	chr12:32059753-32060189	HCT-116	colon:	n/a	n/a
39	CBX3	chr12:32075884-32076289	HCT-116	colon:	n/a	n/a
40	CBX3	chr12:32068338-32068857	K562	blood:	n/a	n/a
41	CBX3	chr12:32075691-32076415	HCT-116	colon:	n/a	n/a
42	CBX3	chr12:32075714-32076342	K562	blood:	n/a	n/a
43	CBX3	chr12:32040345-32040748	K562	blood:	n/a	n/a
44	CBX3	chr12:32050702-32051189	K562	blood:	n/a	n/a
45	CBX3	chr12:32029552-32030076	K562	blood:	n/a	n/a
46	CBX3	chr12:32059772-32060064	K562	blood:	n/a	n/a
47	CBX3	chr12:32049394-32050026	K562	blood:	n/a	n/a
48	CBX3	chr12:32059702-32060122	K562	blood:	n/a	n/a
49	CBX3	chr12:32059717-32060200	HCT-116	colon:	n/a	n/a
50	CBX3	chr12:32075340-32075536	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:32056977..32058627-chr12:32060537..32062486,2	K562	blood:
2	chr12:32003812..32007387-chr12:32010341..32012984,3	K562	blood:
3	chr12:32056977..32058627-chr12:32060537..32062486,2	K562	blood:
4	chr12:32003812..32006453-chr12:32010341..32012776,2	K562	blood:
5	chr12:32009885..32011999-chr12:32112315..32115076,2	MCF-7	breast:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-H3F3C-2	chr12:32057604-32058166	NONHSAT027580
2	lnc-H3F3C-2	chr12:32031137-32031852	NONHSAT027580
3	lnc-H3F3C-6	chr12:32077464-32077521	NONHSAT027589
4	lnc-H3F3C-6	chr12:32069002-32069098	NONHSAT027589
5	lnc-C12orf35-10	chr12:32021031-32021221	NONHSAT027583
6	lnc-H3F3C-2	chr12:32068298-32068616	NONHSAT027580
7	lnc-C12orf35-11	chr12:32014294-32015157	NONHSAT027582
8	lnc-C12orf35-11	chr12:32013251-32013329	NONHSAT027582
9	lnc-H3F3C-2	chr12:32040101-32040159	XLOC_010046
10	lnc-H3F3C-2	chr12:32030013-32030827	NONHSAT027580
11	lnc-H3F3C-2	chr12:32026186-32026629	XLOC_010046
12	lnc-C12orf35-9	chr12:32046304-32046636	NONHSAT027586
13	lnc-H3F3C-6	chr12:32068728-32068779	NONHSAT027589
14	lnc-C12orf35-10	chr12:32021854-32021922	NONHSAT027583

No data

Variant related genes	Relation type
ENSG00000256372	TF binding region
ENSG00000244436	TF binding region
ENSG00000256465	TF binding region
ENSG00000255760	TF binding region
ENSG00000252584	TF binding region
ENSG00000256372	chromatin interactions
ENSG00000174718	chromatin interactions

Extended variants
information (count: 3013 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:3013 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562478163	chr12:32008405-32008406	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs566922899	chr12:32008461-32008462	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs370584073	chr12:32008481-32008482	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs531413369	chr12:32008531-32008532	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs117703217	chr12:32008634-32008635	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs145104544	chr12:32008660-32008661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs17568263	chr12:32008708-32008709	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs547291045	chr12:32008718-32008719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567520358	chr12:32008767-32008768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530053553	chr12:32008780-32008781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185312563	chr12:32008787-32008788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142320831	chr12:32008814-32008815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142230239	chr12:32008840-32008841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1259705	chr12:32008915-32008916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148172550	chr12:32008919-32008920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535181521	chr12:32008920-32008921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112478611	chr12:32008947-32008948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537722519	chr12:32008954-32008955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542286251	chr12:32008979-32008980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556120311	chr12:32009047-32009048	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs115558633	chr12:32009056-32009057	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs375537401	chr12:32009057-32009058	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs368540254	chr12:32009067-32009068	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs17508967	chr12:32009071-32009072	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs114500954	chr12:32009092-32009093	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs540791069	chr12:32009113-32009114	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs561064871	chr12:32009135-32009136	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs1259706	chr12:32009184-32009185	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs2388970	chr12:32009262-32009263	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs372375273	chr12:32009347-32009348	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs5797442	chr12:32009348-32009349	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs397739443	chr12:32009360-32009361	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs79726156	chr12:32009361-32009362	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs10844029	chr12:32009411-32009412	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs10844030	chr12:32009433-32009434	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs539955621	chr12:32009493-32009494	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs552709054	chr12:32009494-32009495	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs561683498	chr12:32009532-32009533	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs566150774	chr12:32009594-32009595	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs535247053	chr12:32009619-32009620	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs56311059	chr12:32009620-32009621	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11051630	chr12:32009622-32009623	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs537739494	chr12:32009623-32009624	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557437662	chr12:32009633-32009634	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575990290	chr12:32009678-32009679	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111631841	chr12:32009754-32009755	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs17568410	chr12:32009764-32009765	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs575990316	chr12:32009768-32009769	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562807035	chr12:32009837-32009838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189793211	chr12:32009873-32009874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	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
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
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	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
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:761 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32005800-32008400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr12:32005800-32008400	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr12:32006200-32008400	Enhancers	Placenta	Placenta
4	chr12:32006400-32009400	Enhancers	Liver	Liver
5	chr12:32006800-32008400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr12:32007200-32012000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr12:32008000-32008400	ZNF genes & repeats	Primary B cells from cord blood	blood
8	chr12:32008200-32008400	Enhancers	Adipose Nuclei	Adipose
9	chr12:32008200-32013000	Weak transcription	HepG2	liver
10	chr12:32008400-32008600	Active TSS	Monocytes-CD14+_RO01746	blood
11	chr12:32008400-32009600	Weak transcription	Primary B cells from cord blood	blood
12	chr12:32009000-32009800	ZNF genes & repeats	Thymus	Thymus
13	chr12:32009400-32011000	Weak transcription	Liver	Liver
14	chr12:32009600-32009800	ZNF genes & repeats	Primary B cells from cord blood	blood
15	chr12:32009800-32011000	Weak transcription	Primary B cells from cord blood	blood
16	chr12:32009800-32017200	Weak transcription	Thymus	Thymus
17	chr12:32011000-32011400	Enhancers	Liver	Liver
18	chr12:32011000-32011600	ZNF genes & repeats	Primary B cells from cord blood	blood
19	chr12:32011400-32012800	Weak transcription	Liver	Liver
20	chr12:32011600-32012400	Weak transcription	Primary B cells from cord blood	blood
21	chr12:32012000-32012600	Genic enhancers	Primary B cells from peripheral blood	blood
22	chr12:32012000-32013000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
23	chr12:32012200-32013400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr12:32012200-32013600	ZNF genes & repeats	GM12878-XiMat	blood
25	chr12:32012200-32013800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
26	chr12:32012400-32013800	Enhancers	Primary B cells from cord blood	blood
27	chr12:32012600-32013200	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr12:32012600-32013600	Enhancers	Primary B cells from peripheral blood	blood
29	chr12:32012800-32013200	Enhancers	Liver	Liver
30	chr12:32013000-32013400	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr12:32013000-32014000	Enhancers	HepG2	liver
32	chr12:32013200-32013600	Flanking Active TSS	Liver	Liver
33	chr12:32013200-32020400	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr12:32013400-32014000	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr12:32013400-32014400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr12:32013600-32014800	Enhancers	Liver	Liver
37	chr12:32013600-32019600	Weak transcription	Primary B cells from peripheral blood	blood
38	chr12:32013800-32014600	Weak transcription	Primary B cells from cord blood	blood
39	chr12:32014400-32014600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr12:32019000-32020200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:32019400-32020400	Enhancers	Primary T cells fromperipheralblood	blood
42	chr12:32019600-32020600	ZNF genes & repeats	Primary B cells from cord blood	blood
43	chr12:32019600-32023400	Enhancers	Primary B cells from peripheral blood	blood
44	chr12:32019800-32020000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr12:32020000-32020200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:32020000-32020600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr12:32020000-32021000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr12:32020200-32024800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr12:32020400-32020600	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr12:32020400-32020800	Weak transcription	Primary T cells fromperipheralblood	blood

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