Variant report

Variant	nsv519112
Chromosome Location	chr12:31944985-31957381
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:115)
CpG islands
(count:366)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:115 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr12:31949441-31949444	K562	blood:	n/a	n/a
2	ATF2	chr12:31956928-31957459	GM12878	blood:	n/a	n/a
3	BATF	chr12:31957019-31957431	GM12878	blood:	n/a	n/a
4	BATF	chr12:31957043-31957422	GM12878	blood:	n/a	n/a
5	BCL11A	chr12:31957139-31957320	GM12878	blood:	n/a	n/a
6	BCL11A	chr12:31957022-31957369	GM12878	blood:	n/a	n/a
7	BHLHE40	chr12:31957050-31957414	GM12878	blood:	n/a	n/a
8	CEBPB	chr12:31948842-31949042	HepG2	liver:	n/a	chr12:31948963-31948974
9	CEBPB	chr12:31948845-31949051	A549	lung:	n/a	chr12:31948963-31948974
10	CHD1	chr12:31957083-31957326	GM12878	blood:	n/a	n/a
11	CHD2	chr12:31957046-31957443	GM12878	blood:	n/a	n/a
12	CTCF	chr12:31944928-31945070	MCF-7	breast:	n/a	n/a
13	CTCF	chr12:31944919-31945069	MCF-7	breast:	n/a	n/a
14	CTCF	chr12:31944989-31945049	GM12891	blood:	n/a	n/a
15	CTCF	chr12:31944945-31945036	GM12892	blood:	n/a	n/a
16	CTCF	chr12:31944940-31945050	Gliobla	brain:	n/a	n/a
17	CTCF	chr12:31944899-31945068	MCF-7	breast:	n/a	n/a
18	CTCF	chr12:31944947-31945063	MCF-7	breast:	n/a	n/a
19	CTCF	chr12:31944814-31945089	MCF-7	breast:	n/a	n/a
20	CTCF	chr12:31944979-31945065	GM19238	blood:	n/a	n/a
21	CUX1	chr12:31957071-31957481	GM12878	blood:	n/a	n/a
22	EBF1	chr12:31956960-31957507	GM12878	blood:	n/a	n/a
23	ELK1	chr12:31956905-31957135	GM12878	blood:	n/a	n/a
24	EP300	chr12:31957129-31957319	GM12878	blood:	n/a	n/a
25	EP300	chr12:31957017-31957488	GM12878	blood:	n/a	n/a
26	EP300	chr12:31956795-31957422	GM12878	blood:	n/a	n/a
27	FOXM1	chr12:31956976-31957479	GM12878	blood:	n/a	n/a
28	GATA3	chr12:31956861-31957292	T-47D	breast:	n/a	chr12:31956955-31956963 chr12:31956896-31956906
29	GATA3	chr12:31956536-31956826	MCF-7	breast:	n/a	n/a
30	HEY1	chr12:31944992-31945198	HepG2	liver:	n/a	n/a
31	HEY1	chr12:31944224-31945180	K562	blood:	n/a	n/a
32	HEY1	chr12:31945021-31945162	HepG2	liver:	n/a	n/a
33	HEY1	chr12:31944221-31945271	K562	blood:	n/a	n/a
34	IKZF1	chr12:31956850-31957422	GM12878	blood:	n/a	n/a
35	IRF4	chr12:31956970-31957441	GM12878	blood:	n/a	n/a
36	IRF4	chr12:31956983-31957423	GM12878	blood:	n/a	n/a
37	MAFF	chr12:31956318-31956538	HepG2	liver:	n/a	chr12:31956429-31956447
38	MAFF	chr12:31956337-31956572	K562	blood:	n/a	chr12:31956429-31956447
39	MAFK	chr12:31956290-31956616	HepG2	liver:	n/a	n/a
40	MAFK	chr12:31956337-31956516	K562	blood:	n/a	n/a
41	MAFK	chr12:31956286-31956593	HepG2	liver:	n/a	n/a
42	MAFK	chr12:31956324-31956559	IMR90	lung:	n/a	n/a
43	MAX	chr12:31957336-31957491	GM12878	blood:	n/a	n/a
44	MAZ	chr12:31957134-31957339	GM12878	blood:	n/a	n/a
45	MXI1	chr12:31957033-31957462	GM12878	blood:	n/a	n/a
46	MYC	chr12:31947465-31947660	K562	blood:	n/a	n/a
47	NFIC	chr12:31956946-31957464	GM12878	blood:	n/a	n/a
48	NFIC	chr12:31956780-31957477	GM12878	blood:	n/a	n/a
49	NRF1	chr12:31957076-31957297	GM12878	blood:	n/a	n/a
50	PAX5	chr12:31957144-31957348	GM12891	blood:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:31946262-31946312	HepG2	liver:	n/a
2	chr12:31945075-31945125	GM12892	blood:	n/a
3	chr12:31945118-31945168	HEEpiC	esophagus:	n/a
4	chr12:31946408-31946458	Caco-2	colon:	n/a
5	chr12:31946408-31946458	LNCaP	prostate:	n/a
6	chr12:31945075-31945125	HIPEpiC	eye:	n/a
7	chr12:31946408-31946458	ovcar-3	ovarian:	n/a
8	chr12:31945075-31945125	SK-N-SH_RA	brain:	n/a
9	chr12:31946408-31946458	Hela-S3	cervix:	n/a
10	chr12:31945286-31945336	GM12891	blood:	n/a
11	chr12:31945286-31945336	NH-A	brain:	n/a
12	chr12:31946262-31946312	U87	brain:	n/a
13	chr12:31946408-31946458	HEK293	kidney:	embryo
14	chr12:31945075-31945125	AoSMC	blood vessel:	n/a
15	chr12:31946434-31946484	HRCEpiC	kidney:	n/a
16	chr12:31945118-31945168	HIPEpiC	eye:	n/a
17	chr12:31945286-31945336	AG04449	skin:	fetal
18	chr12:31945286-31945336	HRPEpiC	eye:	n/a
19	chr12:31945075-31945125	HCT-116	colon:	n/a
20	chr12:31945286-31945336	AoSMC	blood vessel:	n/a
21	chr12:31946408-31946458	ECC-1	luminal epithelium:	n/a
22	chr12:31946408-31946458	BJ	skin:	n/a
23	chr12:31946262-31946312	Caco-2	colon:	n/a
24	chr12:31946434-31946484	SK-N-SH_RA	brain:	n/a
25	chr12:31945118-31945168	HUVEC	blood vessel:	n/a
26	chr12:31946408-31946458	SK-N-SH	brain:	n/a
27	chr12:31946408-31946458	H1-hESC	embryonic stem cell:	embryo
28	chr12:31945118-31945168	GM12891	blood:	n/a
29	chr12:31946434-31946484	ECC-1	luminal epithelium:	n/a
30	chr12:31946408-31946458	PFSK-1	brain:	n/a
31	chr12:31945118-31945168	Hepatocyte	liver:	n/a
32	chr12:31945286-31945336	GM12892	blood:	n/a
33	chr12:31945118-31945168	AoSMC	blood vessel:	n/a
34	chr12:31946262-31946312	AoSMC	blood vessel:	n/a
35	chr12:31945118-31945168	HAEpiC	amniotic membrane:	n/a
36	chr12:31946262-31946312	HCF	heart:	n/a
37	chr12:31945286-31945336	HRCEpiC	kidney:	n/a
38	chr12:31945075-31945125	HPAEpiC	pulmonary alveolar:	n/a
39	chr12:31946434-31946484	HEK293	kidney:	embryo
40	chr12:31946408-31946458	IMR90	lung:	fetal
41	chr12:31945075-31945125	A549	lung:	n/a
42	chr12:31945286-31945336	HL-60	blood:	n/a
43	chr12:31946408-31946458	A549	lung:	n/a
44	chr12:31945075-31945125	AG04449	skin:	fetal
45	chr12:31946408-31946458	NB4	blood:	n/a
46	chr12:31945118-31945168	BJ	skin:	n/a
47	chr12:31945118-31945168	SK-N-SH_RA	brain:	n/a
48	chr12:31946434-31946484	AG09319	gingival:	n/a
49	chr12:31946434-31946484	Hela-S3	cervix:	n/a
50	chr12:31946434-31946484	IMR90	lung:	fetal

No data

Variant related genes	Relation type
H3F3C	TF binding region
RNU6-1069P	TF binding region
H3F3C	CpG island
RNU6-1069P	CpG island

Extended variants
information (count: 554 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:554 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3759295	chr12:31944985-31944986	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7302165	chr12:31944999-31945000	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs7301923	chr12:31945000-31945001	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs370904771	chr12:31945009-31945010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148428845	chr12:31945032-31945033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373518865	chr12:31945049-31945050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375223069	chr12:31945051-31945052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs61745042	chr12:31945064-31945065	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs374678811	chr12:31945068-31945069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371692293	chr12:31945069-31945070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376399688	chr12:31945072-31945073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567948186	chr12:31945075-31945076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535135924	chr12:31945095-31945096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112418782	chr12:31945109-31945110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368798721	chr12:31945115-31945116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372057579	chr12:31945116-31945117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530618747	chr12:31945123-31945124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375163802	chr12:31945137-31945138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555330075	chr12:31945184-31945185	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs192937364	chr12:31945213-31945214	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs184571806	chr12:31945245-31945246	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs545720626	chr12:31945288-31945289	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
23	rs543925572	chr12:31945324-31945325	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
24	rs139731745	chr12:31945393-31945394	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs143040854	chr12:31945397-31945398	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs540027448	chr12:31945429-31945430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560233233	chr12:31945450-31945451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529164438	chr12:31945560-31945561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542689690	chr12:31945579-31945580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114479802	chr12:31945591-31945592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146164337	chr12:31945592-31945593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115245012	chr12:31945602-31945603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1797821	chr12:31945622-31945623	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs527937682	chr12:31945648-31945649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546792004	chr12:31945682-31945683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567901463	chr12:31945729-31945730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112125487	chr12:31945733-31945734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536968439	chr12:31945735-31945736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188328097	chr12:31945778-31945779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs180800150	chr12:31945813-31945814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147164033	chr12:31945834-31945835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573110198	chr12:31945841-31945842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186397745	chr12:31945852-31945853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147777595	chr12:31945893-31945894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201909588	chr12:31945895-31945896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189232823	chr12:31945915-31945916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75981828	chr12:31945963-31945964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577314162	chr12:31945969-31945970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200123004	chr12:31946005-31946006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201120273	chr12:31946018-31946019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31939200-31947600	Weak transcription	Fetal Kidney	kidney
2	chr12:31942800-31956600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr12:31944200-31945000	Active TSS	HUVEC	blood vessel
4	chr12:31944200-31949600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:31944400-31949200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr12:31944400-31949400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr12:31944400-31949400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr12:31944600-31945200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr12:31944600-31945200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:31944600-31949200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr12:31944600-31949200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:31944600-31949400	Weak transcription	Primary T cells from cord blood	blood
13	chr12:31944600-31949400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr12:31944600-31949400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr12:31944600-31949600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:31944800-31949200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr12:31945200-31949400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr12:31947600-31947800	Flanking Active TSS	Fetal Kidney	kidney
19	chr12:31947600-31947800	Enhancers	Fetal Thymus	thymus
20	chr12:31947800-31948000	Enhancers	Fetal Kidney	kidney
21	chr12:31948000-31948200	Flanking Active TSS	Fetal Kidney	kidney
22	chr12:31949200-31949600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:31949200-31949800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:31949200-31950600	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr12:31949200-31950800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr12:31949200-31951000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr12:31949200-31951400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:31949400-31949600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr12:31949400-31949800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:31949400-31949800	Enhancers	Primary T cells from cord blood	blood
31	chr12:31949400-31950400	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr12:31949400-31950800	Enhancers	Primary T cells fromperipheralblood	blood
33	chr12:31949400-31951000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr12:31949400-31951000	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr12:31949400-31951200	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr12:31949400-31951200	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr12:31949600-31949800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:31949600-31950200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:31949600-31950400	Enhancers	H9 Cell Line	embryonic stem cell
40	chr12:31949600-31950600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr12:31949600-31950800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr12:31949600-31951200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr12:31949800-31950000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:31949800-31950000	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr12:31950000-31950200	Enhancers	Primary T cells from cord blood	blood
46	chr12:31950000-31950600	Enhancers	Spleen	Spleen
47	chr12:31950000-31950800	Enhancers	Fetal Thymus	thymus
48	chr12:31950200-31950400	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr12:31950200-31950600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr12:31950200-31954400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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