Variant report

Variant	nsv437741
Chromosome Location	chr12:33714866-33736858
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:63)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:63 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr12:33734583-33735390	GM12878	blood:	n/a	n/a
2	CBX3	chr12:33715352-33715613	K562	blood:	n/a	n/a
3	CBX3	chr12:33715396-33715617	K562	blood:	n/a	n/a
4	CHD2	chr12:33734716-33734999	GM12878	blood:	n/a	n/a
5	CTCF	chr12:33728391-33728597	K562	blood:	n/a	n/a
6	CTCF	chr12:33728380-33728530	GM12874	blood:	n/a	n/a
7	CTCF	chr12:33730491-33730573	GM13976	blood:	n/a	n/a
8	CTCF	chr12:33728380-33728530	HRPEpiC	eye:	n/a	n/a
9	CTCF	chr12:33728420-33728570	GM12866	blood:	n/a	n/a
10	CTCF	chr12:33728334-33728660	GM12878	blood:	n/a	n/a
11	CTCF	chr12:33728340-33728490	HMEC	breast:	n/a	n/a
12	CTCF	chr12:33728380-33728530	SAEC	small airway:	n/a	n/a
13	CTCF	chr12:33730147-33730156	HepG2	liver:	n/a	n/a
14	CTCF	chr12:33728436-33728472	GM12878	blood:	n/a	n/a
15	EBF1	chr12:33735220-33735290	GM12878	blood:	n/a	n/a
16	EP300	chr12:33734575-33734967	GM12878	blood:	n/a	n/a
17	EP300	chr12:33734584-33734894	SK-N-SH_RA	brain:	n/a	n/a
18	EP300	chr12:33734626-33734854	GM12878	blood:	n/a	n/a
19	EP300	chr12:33722252-33722384	K562	blood:	n/a	n/a
20	EP300	chr12:33734568-33734921	SK-N-SH_RA	brain:	n/a	n/a
21	EP300	chr12:33734570-33734996	GM12878	blood:	n/a	n/a
22	FOS	chr12:33720657-33720864	MCF10A-Er-Src	breast:	n/a	chr12:33720746-33720756 chr12:33720746-33720755 chr12:33720746-33720756 chr12:33720748-33720759
23	FOS	chr12:33720624-33720933	MCF10A-Er-Src	breast:	n/a	chr12:33720746-33720756 chr12:33720746-33720755 chr12:33720746-33720756 chr12:33720748-33720759
24	FOS	chr12:33720614-33720933	MCF10A-Er-Src	breast:	n/a	chr12:33720746-33720756 chr12:33720746-33720755 chr12:33720746-33720756 chr12:33720748-33720759
25	FOS	chr12:33720627-33720930	MCF10A-Er-Src	breast:	n/a	chr12:33720746-33720756 chr12:33720746-33720755 chr12:33720746-33720756 chr12:33720748-33720759
26	IRF1	chr12:33728490-33728508	K562	blood:	n/a	n/a
27	IRF1	chr12:33736221-33736253	K562	blood:	n/a	n/a
28	JUN	chr12:33734761-33734918	K562	blood:	n/a	n/a
29	JUND	chr12:33719397-33719713	HepG2	liver:	n/a	chr12:33719529-33719540
30	KAP1	chr12:33715122-33716066	K562	blood:	n/a	n/a
31	KAP1	chr12:33733183-33733582	K562	blood:	n/a	n/a
32	MAFK	chr12:33721789-33721821	HepG2	liver:	n/a	n/a
33	MAFK	chr12:33726706-33726796	HepG2	liver:	n/a	n/a
34	MXI1	chr12:33734649-33734953	GM12878	blood:	n/a	n/a
35	MYC	chr12:33714766-33714892	MCF-7	breast:	n/a	n/a
36	NRF1	chr12:33734781-33734868	GM12878	blood:	n/a	n/a
37	POLR2A	chr12:33714775-33714962	MCF-7	breast:	n/a	n/a
38	POLR2A	chr12:33714674-33714916	A549	lung:	n/a	n/a
39	POLR2A	chr12:33728475-33728490	MCF-7	breast:	n/a	n/a
40	POLR2A	chr12:33724680-33724892	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr12:33719422-33719588	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr12:33726426-33726863	H1-neurons	neurons:	n/a	n/a
43	POLR2A	chr12:33733617-33733810	MCF10A-Er-Src	breast:	n/a	n/a
44	RAD21	chr12:33728311-33728639	H1-hESC	embryonic stem cell:	n/a	n/a
45	RAD21	chr12:33728317-33728671	H1-hESC	embryonic stem cell:	n/a	n/a
46	RAD21	chr12:33728256-33728722	H1-hESC	embryonic stem cell:	n/a	n/a
47	RAD21	chr12:33728378-33728543	GM12878	blood:	n/a	n/a
48	RAD21	chr12:33728386-33728546	GM12878	blood:	n/a	n/a
49	RCOR1	chr12:33736817-33737011	K562	blood:	n/a	n/a
50	RCOR1	chr12:33734789-33734971	GM12878	blood:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:33667255..33668975-chr12:33733951..33735986,2	MCF-7	breast:
2	chr12:33724218..33727073-chr12:33731146..33732945,2	MCF-7	breast:
3	chr12:33592469..33594296-chr12:33715860..33717717,2	MCF-7	breast:
4	chr12:33734204..33736505-chr12:33740513..33742206,2	K562	blood:
5	chr12:33721763..33724607-chr12:33725779..33728514,2	MCF-7	breast:
6	chr12:33720010..33722634-chr12:33727963..33730491,2	K562	blood:
7	chr12:33724218..33727073-chr12:33731146..33732945,2	MCF-7	breast:
8	chr12:33719195..33722497-chr12:33723252..33727386,3	MCF-7	breast:
9	chr12:33732468..33735660-chr12:33738194..33740414,4	MCF-7	breast:
10	chr12:33719195..33722497-chr12:33723252..33727386,3	MCF-7	breast:
11	chr12:33735767..33737470-chr12:33737741..33739409,2	K562	blood:
12	chr12:31834709..31836887-chr12:33736084..33739059,2	K562	blood:
13	chr12:33721763..33724607-chr12:33725779..33728514,2	MCF-7	breast:
14	chr12:33726328..33728110-chr12:33734687..33736717,2	MCF-7	breast:
15	chr12:33726328..33728110-chr12:33734687..33736717,2	MCF-7	breast:
16	chr12:33730883..33732707-chr12:33745155..33746710,2	MCF-7	breast:
17	chr12:33711689..33714048-chr12:33717879..33720013,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNU6-400P	TF binding region
ENSG00000110975	chromatin interactions
ENSG00000212475	chromatin interactions

Extended variants
information (count: 347 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:347 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1384601	chr12:33714866-33714867	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs115856089	chr12:33714880-33714881	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs116232970	chr12:33714881-33714882	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs540427563	chr12:33714912-33714913	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs35481968	chr12:33714930-33714931	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs376242767	chr12:33714933-33714934	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs74675231	chr12:33714945-33714946	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs78978445	chr12:33714991-33714992	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs551413407	chr12:33715611-33715612	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs367959886	chr12:33715650-33715651	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs138603903	chr12:33715657-33715658	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs550992887	chr12:33715678-33715679	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs79477671	chr12:33715689-33715690	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs546978515	chr12:33715690-33715691	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs147830436	chr12:33715717-33715718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs192144195	chr12:33715718-33715719	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs7316635	chr12:33715726-33715727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs149305298	chr12:33715748-33715749	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs10437769	chr12:33715749-33715750	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs567372224	chr12:33715815-33715816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs531223546	chr12:33715821-33715822	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs545776658	chr12:33715866-33715867	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs372482182	chr12:33715867-33715868	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs377086651	chr12:33715926-33715927	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs552540288	chr12:33715927-33715928	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs7316878	chr12:33715933-33715934	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs184510685	chr12:33715962-33715963	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs541575474	chr12:33715989-33715990	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs7487184	chr12:33716044-33716045	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs574912010	chr12:33716091-33716092	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs368271979	chr12:33716110-33716111	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs370358039	chr12:33716121-33716122	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs562648013	chr12:33716173-33716174	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs553919840	chr12:33716187-33716188	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs565752580	chr12:33716203-33716204	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs187741442	chr12:33716211-33716212	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs114715199	chr12:33716220-33716221	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs535903915	chr12:33716228-33716229	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs191654900	chr12:33716285-33716286	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs143543074	chr12:33716356-33716357	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs547116574	chr12:33716369-33716370	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs554540427	chr12:33716379-33716380	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs79682623	chr12:33716399-33716400	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs148071491	chr12:33716449-33716450	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs548353010	chr12:33716471-33716472	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs550402904	chr12:33716472-33716473	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs570250802	chr12:33716497-33716498	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs368645401	chr12:33716544-33716545	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs201045591	chr12:33716549-33716550	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs115606918	chr12:33716551-33716552	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
Hodgkin''s lymphoma	17606441	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	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
Cancer	21272361	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33714600-33715000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:33715600-33716200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr12:33733200-33741400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:33733800-33735600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:33733800-33736000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:33734400-33734800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr12:33734600-33735200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr12:33734600-33735400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:33734800-33739600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:33735200-33737000	Enhancers	Duodenum Mucosa	Duodenum
11	chr12:33735200-33739400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:33735400-33739600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:33735600-33739200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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