Variant report

Variant	nsv1040134
Chromosome Location	chr12:32002284-32063002
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:743)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:743 , 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	ARID3A	chr12:32007038-32007368	HepG2	liver:	n/a	n/a
3	ATF1	chr12:32049547-32049913	K562	blood:	n/a	n/a
4	ATF2	chr12:32028105-32028579	GM12878	blood:	n/a	n/a
5	ATF2	chr12:32028192-32028592	GM12878	blood:	n/a	n/a
6	ATF2	chr12:32012430-32012848	GM12878	blood:	n/a	n/a
7	ATF2	chr12:32059435-32060240	GM12878	blood:	n/a	n/a
8	ATF2	chr12:32049321-32050102	GM12878	blood:	n/a	n/a
9	ATF2	chr12:32049229-32050151	GM12878	blood:	n/a	n/a
10	ATF2	chr12:32043462-32043919	GM12878	blood:	n/a	n/a
11	ATF2	chr12:32039867-32040549	GM12878	blood:	n/a	n/a
12	ATF2	chr12:32012425-32013045	GM12878	blood:	n/a	n/a
13	BATF	chr12:32012446-32012948	GM12878	blood:	n/a	chr12:32012663-32012674
14	BATF	chr12:32059572-32060170	GM12878	blood:	n/a	n/a
15	BATF	chr12:32041880-32042149	GM12878	blood:	n/a	n/a
16	BATF	chr12:32028347-32028606	GM12878	blood:	n/a	chr12:32028517-32028528
17	BATF	chr12:32049428-32049899	GM12878	blood:	n/a	n/a
18	BATF	chr12:32049356-32049918	GM12878	blood:	n/a	n/a
19	BATF	chr12:32028298-32028690	GM12878	blood:	n/a	chr12:32028517-32028528
20	BCL11A	chr12:32049507-32049881	GM12878	blood:	n/a	n/a
21	BCL11A	chr12:32040193-32040410	GM12878	blood:	n/a	n/a
22	BCL11A	chr12:32040083-32040458	GM12878	blood:	n/a	n/a
23	BCL11A	chr12:32049416-32049989	GM12878	blood:	n/a	n/a
24	BCL3	chr12:32012394-32012917	GM12878	blood:	n/a	n/a
25	BCL3	chr12:32049369-32049919	GM12878	blood:	n/a	n/a
26	BCLAF1	chr12:32059642-32060136	GM12878	blood:	n/a	n/a
27	BCLAF1	chr12:32049270-32049928	GM12878	blood:	n/a	n/a
28	BCLAF1	chr12:32049209-32050041	GM12878	blood:	n/a	n/a
29	BCLAF1	chr12:32028251-32028607	GM12878	blood:	n/a	n/a
30	BCLAF1	chr12:32039797-32040469	GM12878	blood:	n/a	chr12:32039937-32039946
31	BCLAF1	chr12:32012499-32012999	GM12878	blood:	n/a	n/a
32	BHLHE40	chr12:32048716-32048763	GM12878	blood:	n/a	n/a
33	BHLHE40	chr12:32050871-32051039	K562	blood:	n/a	n/a
34	BHLHE40	chr12:32049476-32050175	GM12878	blood:	n/a	n/a
35	BHLHE40	chr12:32012628-32013027	GM12878	blood:	n/a	n/a
36	BHLHE40	chr12:32039961-32040391	GM12878	blood:	n/a	n/a
37	BHLHE40	chr12:32043557-32043864	GM12878	blood:	n/a	n/a
38	BHLHE40	chr12:32049571-32049904	K562	blood:	n/a	n/a
39	CBX3	chr12:32050702-32051189	K562	blood:	n/a	n/a
40	CBX3	chr12:32003214-32003622	K562	blood:	n/a	n/a
41	CBX3	chr12:32049394-32050026	K562	blood:	n/a	n/a
42	CBX3	chr12:32001974-32002465	HCT-116	colon:	n/a	n/a
43	CBX3	chr12:32002133-32002441	HCT-116	colon:	n/a	n/a
44	CBX3	chr12:32059717-32060200	HCT-116	colon:	n/a	n/a
45	CBX3	chr12:32059772-32060064	K562	blood:	n/a	n/a
46	CBX3	chr12:32059702-32060122	K562	blood:	n/a	n/a
47	CBX3	chr12:32040345-32040748	K562	blood:	n/a	n/a
48	CBX3	chr12:32059753-32060189	HCT-116	colon:	n/a	n/a
49	CBX3	chr12:32003236-32003600	K562	blood:	n/a	n/a
50	CBX3	chr12:32029552-32030076	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:32004133..32005677-chr12:32006398..32008295,2	K562	blood:
2	chr12:32004133..32005677-chr12:32006398..32008295,2	K562	blood:
3	chr12:32003812..32007387-chr12:32010341..32012984,3	K562	blood:
4	chr12:32056977..32058627-chr12:32060537..32062486,2	K562	blood:
5	chr12:32056977..32058627-chr12:32060537..32062486,2	K562	blood:
6	chr12:32003812..32006453-chr12:32010341..32012776,2	K562	blood:
7	chr12:32009885..32011999-chr12:32112315..32115076,2	MCF-7	breast:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-H3F3C-2	chr12:32057604-32058166	NONHSAT027580
2	lnc-H3F3C-2	chr12:32026186-32026629	XLOC_010046
3	lnc-C12orf35-10	chr12:32021854-32021922	NONHSAT027583
4	lnc-C12orf35-10	chr12:32021031-32021221	NONHSAT027583
5	lnc-H3F3C-2	chr12:32030013-32030827	NONHSAT027580
6	lnc-C12orf35-11	chr12:32014294-32015157	NONHSAT027582
7	lnc-C12orf35-9	chr12:32046304-32046636	NONHSAT027586
8	lnc-C12orf35-11	chr12:32013251-32013329	NONHSAT027582
9	lnc-H3F3C-5	chr12:32005955-32006341	NONHSAT027581
10	lnc-H3F3C-2	chr12:32040101-32040159	XLOC_010046
11	lnc-H3F3C-2	chr12:32031137-32031852	NONHSAT027580

No data

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

Extended variants
information (count: 2656 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:2656 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550242067	chr12:32002307-32002308	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs371044354	chr12:32002319-32002320	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs188552577	chr12:32002337-32002338	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs113097624	chr12:32002345-32002346	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs557593096	chr12:32002349-32002350	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs35988596	chr12:32002357-32002358	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs397729740	chr12:32002365-32002366	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs568487346	chr12:32002513-32002514	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs557534628	chr12:32002578-32002579	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs149636887	chr12:32002598-32002599	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs575684045	chr12:32002654-32002655	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs535824623	chr12:32002655-32002656	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs546253817	chr12:32002739-32002740	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs564846136	chr12:32002868-32002869	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs115303943	chr12:32002976-32002977	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs146143210	chr12:32003016-32003017	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs560742902	chr12:32003039-32003040	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs529973581	chr12:32003078-32003079	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs184925795	chr12:32003101-32003102	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs569883825	chr12:32003108-32003109	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs73075931	chr12:32003109-32003110	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs552508128	chr12:32003170-32003171	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs188184135	chr12:32003189-32003190	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs35922189	chr12:32003215-32003216	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs397690612	chr12:32003222-32003223	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs140193435	chr12:32003295-32003296	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs192620623	chr12:32003321-32003322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs1259703	chr12:32003328-32003329	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs537596973	chr12:32003437-32003438	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs557392547	chr12:32003511-32003512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs577434131	chr12:32003543-32003544	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs529538704	chr12:32003545-32003546	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs534031940	chr12:32003550-32003551	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs183673461	chr12:32003579-32003580	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs547860721	chr12:32003584-32003585	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs569446617	chr12:32003630-32003631	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs187996334	chr12:32003664-32003665	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs571853072	chr12:32003690-32003691	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs530538176	chr12:32003691-32003692	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs181889648	chr12:32003753-32003754	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs143539186	chr12:32003768-32003769	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs529840328	chr12:32003797-32003798	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs543573862	chr12:32003823-32003824	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs146789974	chr12:32003837-32003838	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs113578979	chr12:32003854-32003855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs7963090	chr12:32003942-32003943	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs552316385	chr12:32003961-32003962	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs577101863	chr12:32003970-32003971	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs566070922	chr12:32004007-32004008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs184699386	chr12:32004027-32004028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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

Chromatin state (count:754 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31996400-32004400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:32000600-32002400	ZNF genes & repeats	Primary B cells from cord blood	blood
3	chr12:32000800-32004000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr12:32001800-32004200	ZNF genes & repeats	Dnd41	blood
5	chr12:32002000-32006400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr12:32003600-32005200	ZNF genes & repeats	Primary B cells from cord blood	blood
7	chr12:32004800-32005200	Active TSS	Liver	Liver
8	chr12:32005000-32005800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
9	chr12:32005200-32006000	Enhancers	Liver	Liver
10	chr12:32005200-32006200	Strong transcription	Primary B cells from cord blood	blood
11	chr12:32005800-32007400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr12:32005800-32008400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr12:32005800-32008400	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr12:32006000-32006400	Flanking Active TSS	Liver	Liver
15	chr12:32006000-32007200	Enhancers	Adipose Nuclei	Adipose
16	chr12:32006200-32007000	Enhancers	Brain Substantia Nigra	brain
17	chr12:32006200-32008000	Weak transcription	Primary B cells from cord blood	blood
18	chr12:32006200-32008400	Enhancers	Placenta	Placenta
19	chr12:32006400-32006800	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr12:32006400-32008200	Enhancers	HepG2	liver
21	chr12:32006400-32009400	Enhancers	Liver	Liver
22	chr12:32006800-32008400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr12:32007000-32007600	Enhancers	Hela-S3	cervix
24	chr12:32007200-32007600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:32007200-32008200	Weak transcription	Adipose Nuclei	Adipose
26	chr12:32007200-32012000	Weak transcription	Primary B cells from peripheral blood	blood
27	chr12:32008000-32008400	ZNF genes & repeats	Primary B cells from cord blood	blood
28	chr12:32008200-32008400	Enhancers	Adipose Nuclei	Adipose
29	chr12:32008200-32013000	Weak transcription	HepG2	liver
30	chr12:32008400-32008600	Active TSS	Monocytes-CD14+_RO01746	blood
31	chr12:32008400-32009600	Weak transcription	Primary B cells from cord blood	blood
32	chr12:32009000-32009800	ZNF genes & repeats	Thymus	Thymus
33	chr12:32009400-32011000	Weak transcription	Liver	Liver
34	chr12:32009600-32009800	ZNF genes & repeats	Primary B cells from cord blood	blood
35	chr12:32009800-32011000	Weak transcription	Primary B cells from cord blood	blood
36	chr12:32009800-32017200	Weak transcription	Thymus	Thymus
37	chr12:32011000-32011400	Enhancers	Liver	Liver
38	chr12:32011000-32011600	ZNF genes & repeats	Primary B cells from cord blood	blood
39	chr12:32011400-32012800	Weak transcription	Liver	Liver
40	chr12:32011600-32012400	Weak transcription	Primary B cells from cord blood	blood
41	chr12:32012000-32012600	Genic enhancers	Primary B cells from peripheral blood	blood
42	chr12:32012000-32013000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
43	chr12:32012200-32013400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr12:32012200-32013600	ZNF genes & repeats	GM12878-XiMat	blood
45	chr12:32012200-32013800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
46	chr12:32012400-32013800	Enhancers	Primary B cells from cord blood	blood
47	chr12:32012600-32013200	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr12:32012600-32013600	Enhancers	Primary B cells from peripheral blood	blood
49	chr12:32012800-32013200	Enhancers	Liver	Liver
50	chr12:32013000-32013400	Weak transcription	Primary monocytes fromperipheralblood	blood

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