Variant report

Variant	esv2754670
Chromosome Location	chr12:31991918-32063002
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:870)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:870 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

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	chr12:31996390-31996733	K562	blood:	n/a	n/a
3	ARID3A	chr12:31998558-31999192	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:32007038-32007368	HepG2	liver:	n/a	n/a
5	ATF1	chr12:32049547-32049913	K562	blood:	n/a	n/a
6	ATF1	chr12:31996411-31996673	K562	blood:	n/a	n/a
7	ATF2	chr12:32028105-32028579	GM12878	blood:	n/a	n/a
8	ATF2	chr12:32043462-32043919	GM12878	blood:	n/a	n/a
9	ATF2	chr12:32049229-32050151	GM12878	blood:	n/a	n/a
10	ATF2	chr12:32059435-32060240	GM12878	blood:	n/a	n/a
11	ATF2	chr12:32028192-32028592	GM12878	blood:	n/a	n/a
12	ATF2	chr12:32012430-32012848	GM12878	blood:	n/a	n/a
13	ATF2	chr12:32049321-32050102	GM12878	blood:	n/a	n/a
14	ATF2	chr12:32039867-32040549	GM12878	blood:	n/a	n/a
15	ATF2	chr12:32012425-32013045	GM12878	blood:	n/a	n/a
16	BATF	chr12:32041880-32042149	GM12878	blood:	n/a	n/a
17	BATF	chr12:32059572-32060170	GM12878	blood:	n/a	n/a
18	BATF	chr12:32049356-32049918	GM12878	blood:	n/a	n/a
19	BATF	chr12:32028347-32028606	GM12878	blood:	n/a	chr12:32028517-32028528
20	BATF	chr12:32049428-32049899	GM12878	blood:	n/a	n/a
21	BATF	chr12:32028298-32028690	GM12878	blood:	n/a	chr12:32028517-32028528
22	BATF	chr12:32012446-32012948	GM12878	blood:	n/a	chr12:32012663-32012674
23	BCL11A	chr12:32040193-32040410	GM12878	blood:	n/a	n/a
24	BCL11A	chr12:32040083-32040458	GM12878	blood:	n/a	n/a
25	BCL11A	chr12:32049507-32049881	GM12878	blood:	n/a	n/a
26	BCL11A	chr12:32049416-32049989	GM12878	blood:	n/a	n/a
27	BCL3	chr12:32012394-32012917	GM12878	blood:	n/a	n/a
28	BCL3	chr12:32049369-32049919	GM12878	blood:	n/a	n/a
29	BCLAF1	chr12:32049270-32049928	GM12878	blood:	n/a	n/a
30	BCLAF1	chr12:32059642-32060136	GM12878	blood:	n/a	n/a
31	BCLAF1	chr12:32039797-32040469	GM12878	blood:	n/a	chr12:32039937-32039946
32	BCLAF1	chr12:32028251-32028607	GM12878	blood:	n/a	n/a
33	BCLAF1	chr12:32049209-32050041	GM12878	blood:	n/a	n/a
34	BCLAF1	chr12:32012499-32012999	GM12878	blood:	n/a	n/a
35	BHLHE40	chr12:32012628-32013027	GM12878	blood:	n/a	n/a
36	BHLHE40	chr12:32049476-32050175	GM12878	blood:	n/a	n/a
37	BHLHE40	chr12:32050871-32051039	K562	blood:	n/a	n/a
38	BHLHE40	chr12:32049571-32049904	K562	blood:	n/a	n/a
39	BHLHE40	chr12:32048716-32048763	GM12878	blood:	n/a	n/a
40	BHLHE40	chr12:32043557-32043864	GM12878	blood:	n/a	n/a
41	BHLHE40	chr12:32039961-32040391	GM12878	blood:	n/a	n/a
42	BHLHE40	chr12:31998502-31998558	K562	blood:	n/a	n/a
43	CBX3	chr12:32050702-32051189	K562	blood:	n/a	n/a
44	CBX3	chr12:32045083-32045446	K562	blood:	n/a	n/a
45	CBX3	chr12:32059772-32060064	K562	blood:	n/a	n/a
46	CBX3	chr12:31996526-31996855	K562	blood:	n/a	n/a
47	CBX3	chr12:32001974-32002465	HCT-116	colon:	n/a	n/a
48	CBX3	chr12:32059717-32060200	HCT-116	colon:	n/a	n/a
49	CBX3	chr12:32049394-32050026	K562	blood:	n/a	n/a
50	CBX3	chr12:32003214-32003622	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:31881032..31882626-chr12:31999640..32002077,2	K562	blood:
2	chr12:32009885..32011999-chr12:32112315..32115076,2	MCF-7	breast:
3	chr12:31879460..31882870-chr12:31994967..32002077,7	K562	blood:
4	chr12:32003812..32007387-chr12:32010341..32012984,3	K562	blood:
5	chr12:32056977..32058627-chr12:32060537..32062486,2	K562	blood:
6	chr12:31879460..31881406-chr12:31997211..31999546,2	K562	blood:
7	chr12:32003812..32006453-chr12:32010341..32012776,2	K562	blood:
8	chr12:32004133..32005677-chr12:32006398..32008295,2	K562	blood:
9	chr12:32004133..32005677-chr12:32006398..32008295,2	K562	blood:
10	chr12:32056977..32058627-chr12:32060537..32062486,2	K562	blood:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-H3F3C-2	chr12:32030013-32030827	NONHSAT027580
2	lnc-H3F3C-2	chr12:32057604-32058166	NONHSAT027580
3	lnc-C12orf35-11	chr12:32013251-32013329	NONHSAT027582
4	lnc-C12orf35-10	chr12:32021854-32021922	NONHSAT027583
5	lnc-C12orf35-10	chr12:32021031-32021221	NONHSAT027583
6	lnc-H3F3C-5	chr12:32005955-32006341	NONHSAT027581
7	lnc-H3F3C-2	chr12:32040101-32040159	XLOC_010046
8	lnc-H3F3C-2	chr12:32031137-32031852	NONHSAT027580
9	lnc-H3F3C-2	chr12:31996071-31996088	NONHSAT027580
10	lnc-C12orf35-11	chr12:32014294-32015157	NONHSAT027582
11	lnc-H3F3C-2	chr12:31996117-31997248	NONHSAT027580
12	lnc-C12orf35-9	chr12:32046304-32046636	NONHSAT027586
13	lnc-H3F3C-2	chr12:32026186-32026629	XLOC_010046

No data

Variant related genes	Relation type
ENSG00000256372	TF binding region
ENSG00000244436	TF binding region
ENSG00000256465	TF binding region
ENSG00000255760	TF binding region
ENSG00000174718	chromatin interactions
ENSG00000151743	chromatin interactions
ENSG00000256372	chromatin interactions

Extended variants
information (count: 3076 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:3076 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12300775	chr12:31991918-31991919	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548926794	chr12:31992012-31992013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11502789	chr12:31992035-31992036	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs149792284	chr12:31992052-31992053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375756387	chr12:31992053-31992054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538917212	chr12:31992108-31992109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs71445826	chr12:31992157-31992158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs180776609	chr12:31992180-31992181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs56293629	chr12:31992246-31992247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540282426	chr12:31992269-31992270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73288281	chr12:31992284-31992285	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs145391701	chr12:31992310-31992311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145510152	chr12:31992328-31992329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73075925	chr12:31992372-31992373	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs374635239	chr12:31992390-31992391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376278473	chr12:31992430-31992431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185964854	chr12:31992446-31992447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192005027	chr12:31992452-31992453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551532820	chr12:31992471-31992472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571624430	chr12:31992508-31992509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532120823	chr12:31992584-31992585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113863285	chr12:31992599-31992600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140002178	chr12:31992608-31992609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs56373925	chr12:31992618-31992619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536568170	chr12:31992644-31992645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147729761	chr12:31992658-31992659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566459246	chr12:31992716-31992717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113969044	chr12:31992722-31992723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535236901	chr12:31992732-31992733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576572749	chr12:31992740-31992741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142634616	chr12:31992800-31992801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575361296	chr12:31992841-31992842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372276054	chr12:31992856-31992857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537186903	chr12:31992882-31992883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112758378	chr12:31992920-31992921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144952852	chr12:31992923-31992924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145700343	chr12:31992970-31992971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577892794	chr12:31993012-31993013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540520308	chr12:31993034-31993035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183884913	chr12:31993069-31993070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368306923	chr12:31993079-31993080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573990946	chr12:31993117-31993118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542612005	chr12:31993120-31993121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370284443	chr12:31993130-31993131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562664273	chr12:31993152-31993153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs80354846	chr12:31993168-31993169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557380472	chr12:31993192-31993193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34540245	chr12:31993193-31993194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79528831	chr12:31993204-31993205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78469839	chr12:31993206-31993207	Weak transcription	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:798 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31985600-32000800	Weak transcription	Thymus	Thymus
2	chr12:31988600-31996600	Weak transcription	Stomach Mucosa	stomach
3	chr12:31990800-31992000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
4	chr12:31991200-31994800	Weak transcription	Primary B cells from cord blood	blood
5	chr12:31992000-31996200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr12:31994800-31995400	ZNF genes & repeats	Primary B cells from cord blood	blood
7	chr12:31995400-31996400	Weak transcription	Primary B cells from cord blood	blood
8	chr12:31996200-31996400	Enhancers	Primary B cells from peripheral blood	blood
9	chr12:31996200-31996600	Flanking Active TSS	K562	blood
10	chr12:31996400-31996600	ZNF genes & repeats	Primary B cells from cord blood	blood
11	chr12:31996400-31996600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr12:31996400-31997000	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr12:31996400-31997000	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr12:31996400-32004400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:31996600-31996800	Enhancers	Stomach Mucosa	stomach
16	chr12:31996600-31997200	Enhancers	K562	blood
17	chr12:31996600-31998400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
18	chr12:31997000-31997600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr12:31997000-32000600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr12:31997600-31997800	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr12:31997600-31997800	Enhancers	Adipose Nuclei	Adipose
22	chr12:31997800-31999600	ZNF genes & repeats	Primary B cells from cord blood	blood
23	chr12:31997800-31999800	Enhancers	HepG2	liver
24	chr12:31997800-32000800	Weak transcription	Adipose Nuclei	Adipose
25	chr12:31998000-32000000	Enhancers	Placenta	Placenta
26	chr12:31998200-31998600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:31998400-31998600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:31998400-31998600	Enhancers	Pancreas	Pancrea
29	chr12:31998400-31998600	Active TSS	A549	lung
30	chr12:31998400-31999600	Strong transcription	Primary B cells from peripheral blood	blood
31	chr12:31998400-31999800	Enhancers	K562	blood
32	chr12:31998600-31998800	Enhancers	A549	lung
33	chr12:31998600-31999400	Weak transcription	Pancreas	Pancrea
34	chr12:31998800-31999000	Flanking Active TSS	A549	lung
35	chr12:31998800-32000000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:31999000-31999200	Enhancers	A549	lung
37	chr12:31999400-31999800	Enhancers	Pancreas	Pancrea
38	chr12:31999600-31999800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr12:31999600-32000600	Weak transcription	Primary B cells from cord blood	blood
40	chr12:31999800-32000000	Enhancers	Primary B cells from peripheral blood	blood
41	chr12:32000000-32000400	Weak transcription	Primary B cells from peripheral blood	blood
42	chr12:32000200-32001400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:32000600-32002400	ZNF genes & repeats	Primary B cells from cord blood	blood
44	chr12:32000800-32001000	ZNF genes & repeats	Thymus	Thymus
45	chr12:32000800-32001400	ZNF genes & repeats	Adipose Nuclei	Adipose
46	chr12:32000800-32002000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:32000800-32004000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
48	chr12:32001800-32004200	ZNF genes & repeats	Dnd41	blood
49	chr12:32002000-32006400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
50	chr12:32003600-32005200	ZNF genes & repeats	Primary B cells from cord blood	blood

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