Variant report

Variant	nsv1042631
Chromosome Location	chr12:31982559-32061988
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:954)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:954 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:32007038-32007368	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:31998558-31999192	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:31985993-31986444	K562	blood:	n/a	n/a
4	ARID3A	chr12:31996390-31996733	K562	blood:	n/a	n/a
5	ARID3A	chr12:32013397-32013717	HepG2	liver:	n/a	n/a
6	ATF1	chr12:31985887-31986386	K562	blood:	n/a	n/a
7	ATF1	chr12:31996411-31996673	K562	blood:	n/a	n/a
8	ATF1	chr12:32049547-32049913	K562	blood:	n/a	n/a
9	ATF2	chr12:32039867-32040549	GM12878	blood:	n/a	n/a
10	ATF2	chr12:32049229-32050151	GM12878	blood:	n/a	n/a
11	ATF2	chr12:32028105-32028579	GM12878	blood:	n/a	n/a
12	ATF2	chr12:32059435-32060240	GM12878	blood:	n/a	n/a
13	ATF2	chr12:32012425-32013045	GM12878	blood:	n/a	n/a
14	ATF2	chr12:32028192-32028592	GM12878	blood:	n/a	n/a
15	ATF2	chr12:32012430-32012848	GM12878	blood:	n/a	n/a
16	ATF2	chr12:31985676-31986223	GM12878	blood:	n/a	n/a
17	ATF2	chr12:32043462-32043919	GM12878	blood:	n/a	n/a
18	ATF2	chr12:32049321-32050102	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	chr12:32059572-32060170	GM12878	blood:	n/a	n/a
22	BATF	chr12:32049356-32049918	GM12878	blood:	n/a	n/a
23	BATF	chr12:32041880-32042149	GM12878	blood:	n/a	n/a
24	BATF	chr12:31985768-31986139	GM12878	blood:	n/a	n/a
25	BATF	chr12:32012446-32012948	GM12878	blood:	n/a	chr12:32012663-32012674
26	BATF	chr12:32028298-32028690	GM12878	blood:	n/a	chr12:32028517-32028528
27	BCL11A	chr12:32049507-32049881	GM12878	blood:	n/a	n/a
28	BCL11A	chr12:31985800-31986149	GM12878	blood:	n/a	n/a
29	BCL11A	chr12:31985779-31986107	GM12878	blood:	n/a	n/a
30	BCL11A	chr12:32040083-32040458	GM12878	blood:	n/a	n/a
31	BCL11A	chr12:32049416-32049989	GM12878	blood:	n/a	n/a
32	BCL11A	chr12:32040193-32040410	GM12878	blood:	n/a	n/a
33	BCL3	chr12:32012394-32012917	GM12878	blood:	n/a	n/a
34	BCL3	chr12:32049369-32049919	GM12878	blood:	n/a	n/a
35	BCLAF1	chr12:32049270-32049928	GM12878	blood:	n/a	n/a
36	BCLAF1	chr12:32039797-32040469	GM12878	blood:	n/a	chr12:32039937-32039946
37	BCLAF1	chr12:31985645-31986285	GM12878	blood:	n/a	n/a
38	BCLAF1	chr12:32049209-32050041	GM12878	blood:	n/a	n/a
39	BCLAF1	chr12:31985714-31986171	GM12878	blood:	n/a	n/a
40	BCLAF1	chr12:32012499-32012999	GM12878	blood:	n/a	n/a
41	BCLAF1	chr12:32059642-32060136	GM12878	blood:	n/a	n/a
42	BCLAF1	chr12:32028251-32028607	GM12878	blood:	n/a	n/a
43	BHLHE40	chr12:32043557-32043864	GM12878	blood:	n/a	n/a
44	BHLHE40	chr12:32039961-32040391	GM12878	blood:	n/a	n/a
45	BHLHE40	chr12:32048716-32048763	GM12878	blood:	n/a	n/a
46	BHLHE40	chr12:32012628-32013027	GM12878	blood:	n/a	n/a
47	BHLHE40	chr12:32050871-32051039	K562	blood:	n/a	n/a
48	BHLHE40	chr12:32049476-32050175	GM12878	blood:	n/a	n/a
49	BHLHE40	chr12:31998502-31998558	K562	blood:	n/a	n/a
50	BHLHE40	chr12:32049571-32049904	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:32003812..32006453-chr12:32010341..32012776,2	K562	blood:
2	chr12:32003812..32007387-chr12:32010341..32012984,3	K562	blood:
3	chr12:32056977..32058627-chr12:32060537..32062486,2	K562	blood:
4	chr12:31881032..31882626-chr12:31999640..32002077,2	K562	blood:
5	chr12:32009885..32011999-chr12:32112315..32115076,2	MCF-7	breast:
6	chr12:32004133..32005677-chr12:32006398..32008295,2	K562	blood:
7	chr12:32004133..32005677-chr12:32006398..32008295,2	K562	blood:
8	chr12:31879460..31881406-chr12:31997211..31999546,2	K562	blood:
9	chr12:32056977..32058627-chr12:32060537..32062486,2	K562	blood:
10	chr12:31744029..31745765-chr12:31984895..31986736,2	K562	blood:
11	chr12:31879460..31882870-chr12:31994967..32002077,7	K562	blood:

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

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

No data

Variant related genes	Relation type
ENSG00000244436	TF binding region
ENSG00000255760	TF binding region
ENSG00000256372	TF binding region
ENSG00000256465	TF binding region
ENSG00000256372	chromatin interactions
ENSG00000255867	chromatin interactions
ENSG00000170456	chromatin interactions
ENSG00000174718	chromatin interactions
ENSG00000151743	chromatin interactions

Extended variants
information (count: 3440 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:3440 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536310389	chr12:31982595-31982596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369405314	chr12:31982638-31982639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191170066	chr12:31982639-31982640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12822318	chr12:31982676-31982677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182193698	chr12:31982681-31982682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558417364	chr12:31982719-31982720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571967623	chr12:31982744-31982745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541028150	chr12:31982745-31982746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560915121	chr12:31982746-31982747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144673039	chr12:31982804-31982805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543879297	chr12:31982817-31982818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11837547	chr12:31982852-31982853	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs7977983	chr12:31982906-31982907	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs186678155	chr12:31982924-31982925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560093173	chr12:31982940-31982941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7977871	chr12:31982950-31982951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs568069831	chr12:31982958-31982959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567255328	chr12:31982970-31982971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191070707	chr12:31982983-31982984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183215305	chr12:31982985-31982986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535340079	chr12:31983000-31983001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569789135	chr12:31983005-31983006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538834960	chr12:31983018-31983019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555909122	chr12:31983029-31983030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558281336	chr12:31983030-31983031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557227815	chr12:31983036-31983037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140839093	chr12:31983046-31983047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554574430	chr12:31983071-31983072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs386761791	chr12:31983097-31983098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71452273	chr12:31983098-31983099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs202215375	chr12:31983115-31983116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71062473	chr12:31983137-31983138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139195519	chr12:31983147-31983148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201452943	chr12:31983148-31983149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75216482	chr12:31983200-31983201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577222349	chr12:31983244-31983245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546441923	chr12:31983245-31983246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149970004	chr12:31983253-31983254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188839827	chr12:31983254-31983255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77240040	chr12:31983275-31983276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111743672	chr12:31983280-31983281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs75616478	chr12:31983285-31983286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560767750	chr12:31983329-31983330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371199297	chr12:31983342-31983343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529682009	chr12:31983353-31983354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192881762	chr12:31983356-31983357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569732943	chr12:31983367-31983368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200326841	chr12:31983405-31983406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs386761792	chr12:31983406-31983407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532047245	chr12:31983407-31983408	Weak transcription Enhancers	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:920 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31980800-31984600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr12:31981200-31984200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:31981400-31983400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr12:31981400-31983400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr12:31981400-31984200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:31981400-31984200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr12:31981400-31984200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr12:31981400-31984400	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr12:31981600-31983200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr12:31981600-31983400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:31981600-31984200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:31981600-31984200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr12:31982200-31984200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr12:31982400-31984200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr12:31983200-31985400	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr12:31983400-31983600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr12:31983400-31985400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:31983400-31986800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr12:31983600-31984000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr12:31984000-31986800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr12:31984200-31985000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr12:31984200-31985400	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr12:31984200-31985600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr12:31984200-31985600	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr12:31984200-31986600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr12:31984200-31986800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr12:31984200-31987000	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr12:31984200-31990800	Enhancers	Primary B cells from peripheral blood	blood
29	chr12:31984400-31985600	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr12:31984400-31986000	Enhancers	Primary B cells from cord blood	blood
31	chr12:31984400-31987000	Enhancers	Primary T cells fromperipheralblood	blood
32	chr12:31984600-31985400	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr12:31984600-31986800	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr12:31984600-31988400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr12:31984800-31985200	Enhancers	Primary T cells from cord blood	blood
36	chr12:31985000-31985200	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr12:31985000-31985800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:31985000-31986000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr12:31985000-31986600	ZNF genes & repeats	Dnd41	blood
40	chr12:31985200-31985600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr12:31985200-31985600	Enhancers	Thymus	Thymus
42	chr12:31985200-31986000	Flanking Active TSS	Primary T cells from cord blood	blood
43	chr12:31985200-31986200	ZNF genes & repeats	Fetal Thymus	thymus
44	chr12:31985200-31987600	Enhancers	Primary hematopoietic stem cells	blood
45	chr12:31985400-31985600	Enhancers	GM12878-XiMat	blood
46	chr12:31985400-31985800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:31985400-31985800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr12:31985400-31986000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:31985400-31986200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:31985400-31986200	Enhancers	Spleen	Spleen

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