Variant report

Variant	nsv1041947
Chromosome Location	chr12:32012437-32067890
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:659)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:659 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

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	chr12:32012430-32012848	GM12878	blood:	n/a	n/a
4	ATF2	chr12:32028105-32028579	GM12878	blood:	n/a	n/a
5	ATF2	chr12:32049321-32050102	GM12878	blood:	n/a	n/a
6	ATF2	chr12:32043462-32043919	GM12878	blood:	n/a	n/a
7	ATF2	chr12:32028192-32028592	GM12878	blood:	n/a	n/a
8	ATF2	chr12:32049229-32050151	GM12878	blood:	n/a	n/a
9	ATF2	chr12:32012425-32013045	GM12878	blood:	n/a	n/a
10	ATF2	chr12:32059435-32060240	GM12878	blood:	n/a	n/a
11	ATF2	chr12:32039867-32040549	GM12878	blood:	n/a	n/a
12	BATF	chr12:32012446-32012948	GM12878	blood:	n/a	chr12:32012663-32012674
13	BATF	chr12:32059572-32060170	GM12878	blood:	n/a	n/a
14	BATF	chr12:32049428-32049899	GM12878	blood:	n/a	n/a
15	BATF	chr12:32028298-32028690	GM12878	blood:	n/a	chr12:32028517-32028528
16	BATF	chr12:32041880-32042149	GM12878	blood:	n/a	n/a
17	BATF	chr12:32028347-32028606	GM12878	blood:	n/a	chr12:32028517-32028528
18	BATF	chr12:32049356-32049918	GM12878	blood:	n/a	n/a
19	BCL11A	chr12:32049416-32049989	GM12878	blood:	n/a	n/a
20	BCL11A	chr12:32040193-32040410	GM12878	blood:	n/a	n/a
21	BCL11A	chr12:32040083-32040458	GM12878	blood:	n/a	n/a
22	BCL11A	chr12:32049507-32049881	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	chr12:32028251-32028607	GM12878	blood:	n/a	n/a
26	BCLAF1	chr12:32049209-32050041	GM12878	blood:	n/a	n/a
27	BCLAF1	chr12:32039797-32040469	GM12878	blood:	n/a	chr12:32039937-32039946
28	BCLAF1	chr12:32012499-32012999	GM12878	blood:	n/a	n/a
29	BCLAF1	chr12:32059642-32060136	GM12878	blood:	n/a	n/a
30	BCLAF1	chr12:32049270-32049928	GM12878	blood:	n/a	n/a
31	BHLHE40	chr12:32050871-32051039	K562	blood:	n/a	n/a
32	BHLHE40	chr12:32043557-32043864	GM12878	blood:	n/a	n/a
33	BHLHE40	chr12:32012628-32013027	GM12878	blood:	n/a	n/a
34	BHLHE40	chr12:32039961-32040391	GM12878	blood:	n/a	n/a
35	BHLHE40	chr12:32049571-32049904	K562	blood:	n/a	n/a
36	BHLHE40	chr12:32049476-32050175	GM12878	blood:	n/a	n/a
37	BHLHE40	chr12:32048716-32048763	GM12878	blood:	n/a	n/a
38	CBX3	chr12:32040345-32040748	K562	blood:	n/a	n/a
39	CBX3	chr12:32059753-32060189	HCT-116	colon:	n/a	n/a
40	CBX3	chr12:32045083-32045446	K562	blood:	n/a	n/a
41	CBX3	chr12:32029552-32030076	K562	blood:	n/a	n/a
42	CBX3	chr12:32049394-32050026	K562	blood:	n/a	n/a
43	CBX3	chr12:32050702-32051189	K562	blood:	n/a	n/a
44	CBX3	chr12:32059717-32060200	HCT-116	colon:	n/a	n/a
45	CBX3	chr12:32059702-32060122	K562	blood:	n/a	n/a
46	CBX3	chr12:32059772-32060064	K562	blood:	n/a	n/a
47	CCNT2	chr12:32033345-32033608	K562	blood:	n/a	chr12:32033552-32033572
48	CCNT2	chr12:32049628-32049990	K562	blood:	n/a	n/a
49	CEBPB	chr12:32048294-32048644	K562	blood:	n/a	n/a
50	CEBPB	chr12:32043489-32043725	A549	lung:	n/a	chr12:32043564-32043577 chr12:32043565-32043576

No data

(count:4 , 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	chr12:32003812..32006453-chr12:32010341..32012776,2	K562	blood:
4	chr12:32056977..32058627-chr12:32060537..32062486,2	K562	blood:

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

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

No data

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

Extended variants
information (count: 2366 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:2366 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186920925	chr12:32012463-32012464	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs1259708	chr12:32012466-32012467	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs550578254	chr12:32012529-32012530	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs67402834	chr12:32012533-32012534	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs60877464	chr12:32012534-32012535	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs564196446	chr12:32012535-32012536	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs56387862	chr12:32012621-32012622	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs546854420	chr12:32012642-32012643	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs377454932	chr12:32012661-32012662	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs1259709	chr12:32012671-32012672	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs191560172	chr12:32012678-32012679	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs552379897	chr12:32012698-32012699	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs569101231	chr12:32012714-32012715	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs143581133	chr12:32012732-32012733	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs545133037	chr12:32012785-32012786	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs374541990	chr12:32012802-32012803	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs557708564	chr12:32012816-32012817	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs113239720	chr12:32012821-32012822	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs534036802	chr12:32012825-32012826	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs55965200	chr12:32012857-32012858	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs530809753	chr12:32012924-32012925	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs12313436	chr12:32012958-32012959	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs543170639	chr12:32012960-32012961	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs142287050	chr12:32012989-32012990	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376714013	chr12:32013024-32013025	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs16919008	chr12:32013095-32013096	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs544268237	chr12:32013105-32013106	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs549872141	chr12:32013110-32013111	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs113628665	chr12:32013140-32013141	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs117137279	chr12:32013168-32013169	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs532918277	chr12:32013213-32013214	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs377330844	chr12:32013222-32013223	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs187452297	chr12:32013255-32013256	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
34	rs560165991	chr12:32013267-32013268	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
35	rs547289344	chr12:32013268-32013269	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
36	rs193253784	chr12:32013358-32013359	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs77525587	chr12:32013368-32013369	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs549147397	chr12:32013385-32013386	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs569087146	chr12:32013412-32013413	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs531499654	chr12:32013419-32013420	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs56311344	chr12:32013481-32013482	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs373961480	chr12:32013555-32013556	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs185536646	chr12:32013568-32013569	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs533904187	chr12:32013592-32013593	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs75997928	chr12:32013614-32013615	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs567731821	chr12:32013639-32013640	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs536472585	chr12:32013669-32013670	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs548055541	chr12:32013671-32013672	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs566208990	chr12:32013690-32013691	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs556713284	chr12:32013716-32013717	Enhancers Weak transcription 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:721 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32008200-32013000	Weak transcription	HepG2	liver
2	chr12:32009800-32017200	Weak transcription	Thymus	Thymus
3	chr12:32011400-32012800	Weak transcription	Liver	Liver
4	chr12:32012000-32012600	Genic enhancers	Primary B cells from peripheral blood	blood
5	chr12:32012000-32013000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
6	chr12:32012200-32013400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr12:32012200-32013600	ZNF genes & repeats	GM12878-XiMat	blood
8	chr12:32012200-32013800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
9	chr12:32012400-32013800	Enhancers	Primary B cells from cord blood	blood
10	chr12:32012600-32013200	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr12:32012600-32013600	Enhancers	Primary B cells from peripheral blood	blood
12	chr12:32012800-32013200	Enhancers	Liver	Liver
13	chr12:32013000-32013400	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr12:32013000-32014000	Enhancers	HepG2	liver
15	chr12:32013200-32013600	Flanking Active TSS	Liver	Liver
16	chr12:32013200-32020400	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr12:32013400-32014000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr12:32013400-32014400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:32013600-32014800	Enhancers	Liver	Liver
20	chr12:32013600-32019600	Weak transcription	Primary B cells from peripheral blood	blood
21	chr12:32013800-32014600	Weak transcription	Primary B cells from cord blood	blood
22	chr12:32014400-32014600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr12:32019000-32020200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:32019400-32020400	Enhancers	Primary T cells fromperipheralblood	blood
25	chr12:32019600-32020600	ZNF genes & repeats	Primary B cells from cord blood	blood
26	chr12:32019600-32023400	Enhancers	Primary B cells from peripheral blood	blood
27	chr12:32019800-32020000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr12:32020000-32020200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:32020000-32020600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr12:32020000-32021000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr12:32020200-32024800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:32020400-32020600	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr12:32020400-32020800	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr12:32020400-32022800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:32020600-32024400	Weak transcription	Primary B cells from cord blood	blood
36	chr12:32020600-32027400	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr12:32020800-32021000	Enhancers	Primary T cells fromperipheralblood	blood
38	chr12:32021000-32021200	Enhancers	Primary T cells from cord blood	blood
39	chr12:32021000-32022400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr12:32021000-32027000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr12:32021200-32022400	Enhancers	Ovary	ovary
42	chr12:32021200-32025600	Weak transcription	Primary T cells from cord blood	blood
43	chr12:32021600-32023200	Enhancers	Liver	Liver
44	chr12:32021800-32022400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr12:32022000-32022200	Enhancers	Fetal Muscle Leg	muscle
46	chr12:32022000-32022400	Enhancers	Fetal Heart	heart
47	chr12:32022000-32022600	Enhancers	Right Ventricle	heart
48	chr12:32022000-32023200	Enhancers	Adipose Nuclei	Adipose
49	chr12:32022200-32022600	Enhancers	H9 Cell Line	embryonic stem cell
50	chr12:32022200-32023000	Enhancers	HUES48 Cell Line	embryonic stem cell

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