Variant report

Variant	nsv983305
Chromosome Location	chr12:31767612-31773026
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:60)
CpG islands
(count:366)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:60 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:31771732-31771854	K562	blood:	n/a	n/a
2	ARID3A	chr12:31771254-31771478	K562	blood:	n/a	n/a
3	ATF1	chr12:31771217-31771789	K562	blood:	n/a	n/a
4	BHLHE40	chr12:31771366-31771467	K562	blood:	n/a	n/a
5	CEBPB	chr12:31771682-31771882	K562	blood:	n/a	n/a
6	CEBPB	chr12:31769596-31769635	K562	blood:	n/a	chr12:31769603-31769614
7	CEBPB	chr12:31769477-31769770	A549	lung:	n/a	chr12:31769603-31769614
8	CEBPB	chr12:31769449-31769763	HepG2	liver:	n/a	chr12:31769603-31769614
9	CEBPB	chr12:31769441-31769773	IMR90	lung:	n/a	chr12:31769603-31769614
10	CEBPB	chr12:31771324-31771453	K562	blood:	n/a	n/a
11	CTCF	chr12:31768343-31768473	GM13976	blood:	n/a	n/a
12	CTCF	chr12:31772500-31772650	GM12864	blood:	n/a	n/a
13	CTCF	chr12:31768286-31768312	GM13976	blood:	n/a	n/a
14	CTCF	chr12:31768691-31768782	GM13976	blood:	n/a	n/a
15	CTCF	chr12:31768922-31768957	Lung_OC	lung:	n/a	n/a
16	CTCF	chr12:31769306-31769350	LNCaP	prostate:	n/a	n/a
17	CUX1	chr12:31771283-31771371	K562	blood:	n/a	n/a
18	EBF1	chr12:31769181-31769437	GM12878	blood:	n/a	n/a
19	EP300	chr12:31771214-31772018	K562	blood:	n/a	n/a
20	FOS	chr12:31771412-31771480	MCF10A-Er-Src	breast:	n/a	n/a
21	FOSL1	chr12:31771268-31771524	K562	blood:	n/a	chr12:31771421-31771432
22	HEY1	chr12:31769221-31769530	K562	blood:	n/a	n/a
23	HEY1	chr12:31769074-31769553	HepG2	liver:	n/a	n/a
24	JUND	chr12:31771202-31772076	K562	blood:	n/a	n/a
25	MAFK	chr12:31771077-31771261	HepG2	liver:	n/a	n/a
26	MAX	chr12:31771681-31771874	K562	blood:	n/a	n/a
27	MAZ	chr12:31771313-31771473	K562	blood:	n/a	n/a
28	MYC	chr12:31771247-31771854	K562	blood:	n/a	n/a
29	NR2F2	chr12:31771166-31771609	K562	blood:	n/a	n/a
30	NR2F2	chr12:31771229-31771527	K562	blood:	n/a	n/a
31	PAX5	chr12:31768145-31768470	GM12878	blood:	n/a	n/a
32	PAX5	chr12:31769170-31769408	GM12878	blood:	n/a	n/a
33	POLR2A	chr12:31769003-31769438	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr12:31768136-31768596	GM12878	blood:	n/a	n/a
35	POLR2A	chr12:31769190-31769501	GM12878	blood:	n/a	n/a
36	POLR2A	chr12:31769351-31769498	HepG2	liver:	n/a	n/a
37	POLR2A	chr12:31769187-31769508	GM12878	blood:	n/a	n/a
38	POLR2A	chr12:31769076-31769460	GM12878	blood:	n/a	n/a
39	POLR2A	chr12:31768357-31768707	GM12878	blood:	n/a	n/a
40	POLR2A	chr12:31769049-31769576	GM12892	blood:	n/a	n/a
41	POU2F2	chr12:31768200-31768512	GM12878	blood:	n/a	n/a
42	RCOR1	chr12:31771319-31771463	K562	blood:	n/a	n/a
43	RCOR1	chr12:31771177-31772047	K562	blood:	n/a	n/a
44	SPI1	chr12:31771643-31771934	GM12891	blood:	n/a	n/a
45	SPI1	chr12:31771647-31771820	K562	blood:	n/a	n/a
46	SPI1	chr12:31771606-31771851	GM12878	blood:	n/a	n/a
47	STAT1	chr12:31771261-31771855	Hela-S3	cervix:	n/a	n/a
48	STAT5A	chr12:31771407-31771856	K562	blood:	n/a	n/a
49	TAL1	chr12:31771248-31771515	K562	blood:	n/a	n/a
50	TBL1XR1	chr12:31771221-31771468	K562	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	chr12:31770712-31770762	NHDF-neo	bronchial:	n/a
2	chr12:31769252-31769302	PFSK-1	brain:	n/a
3	chr12:31769252-31769302	HCPEpiC	choroid plexus:	n/a
4	chr12:31771672-31771722	PrEC	prostate:	n/a
5	chr12:31768811-31768861	HEK293	kidney:	embryo
6	chr12:31768811-31768861	Hela-S3	cervix:	n/a
7	chr12:31769499-31769549	NH-A	brain:	n/a
8	chr12:31770712-31770762	HRCEpiC	kidney:	n/a
9	chr12:31769252-31769302	NH-A	brain:	n/a
10	chr12:31770712-31770762	HRPEpiC	eye:	n/a
11	chr12:31769499-31769549	GM12891	blood:	n/a
12	chr12:31769252-31769302	BE2_C	brain:	n/a
13	chr12:31769499-31769549	HCM	heart:	n/a
14	chr12:31771672-31771722	AG09319	gingival:	n/a
15	chr12:31769499-31769549	CMK	blood:	n/a
16	chr12:31770712-31770762	AG04449	skin:	fetal
17	chr12:31771672-31771722	GM12878	blood:	n/a
18	chr12:31768811-31768861	NHDF-neo	bronchial:	n/a
19	chr12:31768811-31768861	BJ	skin:	n/a
20	chr12:31770712-31770762	HCM	heart:	n/a
21	chr12:31770712-31770762	T-47D	breast:	n/a
22	chr12:31769252-31769302	NT2-D1	testis:	n/a
23	chr12:31770712-31770762	HEK293	kidney:	embryo
24	chr12:31769082-31769132	MCF10A-Er-Src	breast:	n/a
25	chr12:31771672-31771722	K562	blood:	n/a
26	chr12:31770712-31770762	HL-60	blood:	n/a
27	chr12:31768811-31768861	AG10803	skin:	n/a
28	chr12:31770712-31770762	ProgFib	skin:	n/a
29	chr12:31768811-31768861	H1-hESC	embryonic stem cell:	embryo
30	chr12:31769082-31769132	HRPEpiC	eye:	n/a
31	chr12:31771672-31771722	AG10803	skin:	n/a
32	chr12:31768811-31768861	NB4	blood:	n/a
33	chr12:31769499-31769549	PrEC	prostate:	n/a
34	chr12:31771672-31771722	GM06990	blood:	n/a
35	chr12:31769082-31769132	HEEpiC	esophagus:	n/a
36	chr12:31768811-31768861	NT2-D1	testis:	n/a
37	chr12:31768811-31768861	SKMC	muscle:	n/a
38	chr12:31768811-31768861	K562	blood:	n/a
39	chr12:31770712-31770762	HNPCEpiC	eye:	n/a
40	chr12:31769252-31769302	AG10803	skin:	n/a
41	chr12:31769082-31769132	GM12878	blood:	n/a
42	chr12:31770712-31770762	HIPEpiC	eye:	n/a
43	chr12:31769499-31769549	HMEC	breast:	n/a
44	chr12:31769252-31769302	SAEC	small airway:	n/a
45	chr12:31768811-31768861	AG04449	skin:	fetal
46	chr12:31769252-31769302	HCF	heart:	n/a
47	chr12:31769499-31769549	HUVEC	blood vessel:	n/a
48	chr12:31769252-31769302	HIPEpiC	eye:	n/a
49	chr12:31769082-31769132	GM12892	blood:	n/a
50	chr12:31771672-31771722	HRE	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:31770731..31773142-chr12:31773203..31775587,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-METTL20-1	chr12:31768094-31768285	ENSG00000255867.1
2	lnc-METTL20-1	chr12:31768094-31768600	ENSG00000255867.1

No data

Variant related genes	Relation type
AK4P3	TF binding region
AK4P3	CpG island

Extended variants
information (count: 177 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:177 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201401158	chr12:31767689-31767690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs199521474	chr12:31767848-31767849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565657653	chr12:31767851-31767852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369815436	chr12:31767852-31767853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113879350	chr12:31767864-31767865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201246640	chr12:31767865-31767866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11051483	chr12:31767872-31767873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534560060	chr12:31767951-31767952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532041750	chr12:31767953-31767954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574781384	chr12:31767964-31767965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12099948	chr12:31767977-31767978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537451119	chr12:31767984-31767985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs61227691	chr12:31768073-31768074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139643034	chr12:31768085-31768086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574442	chr12:31768097-31768098	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs199858476	chr12:31768434-31768435	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs575145993	chr12:31768436-31768437	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs577403451	chr12:31768658-31768659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546437736	chr12:31768749-31768750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200025061	chr12:31768783-31768784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573585297	chr12:31768796-31768797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201336999	chr12:31768811-31768812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35037649	chr12:31768844-31768845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562399612	chr12:31768909-31768910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529681334	chr12:31769029-31769030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549734386	chr12:31769041-31769042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532362	chr12:31769080-31769081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371610241	chr12:31769156-31769157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551955470	chr12:31769173-31769174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185835969	chr12:31769203-31769204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554457	chr12:31769217-31769218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565499900	chr12:31769265-31769266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534502214	chr12:31769298-31769299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548234535	chr12:31769340-31769341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568323436	chr12:31769350-31769351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370535552	chr12:31769387-31769388	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs557291190	chr12:31769413-31769414	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs139576413	chr12:31769419-31769420	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs539897406	chr12:31769422-31769423	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs497260	chr12:31769437-31769438	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs573522034	chr12:31769493-31769494	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs498080	chr12:31769501-31769502	Weak transcription	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs555821056	chr12:31769539-31769540	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
44	rs371598019	chr12:31769578-31769579	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs575859796	chr12:31769588-31769589	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs190359280	chr12:31769616-31769617	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs61932488	chr12:31769664-31769665	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs373691417	chr12:31769722-31769723	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs147851596	chr12:31769766-31769767	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs192096925	chr12:31769835-31769836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
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
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
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31762800-31771600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr12:31771000-31772600	Enhancers	GM12878-XiMat	blood
3	chr12:31771200-31772200	Enhancers	K562	blood
4	chr12:31771200-31774600	Enhancers	Fetal Intestine Large	intestine
5	chr12:31771400-31771800	Enhancers	Hela-S3	cervix
6	chr12:31771400-31772000	Enhancers	HSMMtube	muscle
7	chr12:31771400-31772000	Enhancers	NH-A	brain
8	chr12:31771400-31772600	Enhancers	Fetal Heart	heart
9	chr12:31771400-31772600	Enhancers	Small Intestine	intestine
10	chr12:31771400-31775400	Enhancers	Fetal Intestine Small	intestine
11	chr12:31771600-31771800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:31771600-31772000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:31771600-31772000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:31771600-31772000	Enhancers	A549	lung
15	chr12:31771600-31772200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:31771600-31772800	Enhancers	Ovary	ovary
17	chr12:31771600-31773600	Enhancers	HepG2	liver
18	chr12:31771800-31772800	Enhancers	Duodenum Mucosa	Duodenum
19	chr12:31772000-31773000	Weak transcription	A549	lung
20	chr12:31773000-31773600	Enhancers	A549	lung

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