Variant report

Variant	nsv8983
Chromosome Location	chr12:63939210-64061364
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:184)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:184 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr12:64000417-64000676	GM12878	blood:	n/a	n/a
2	BATF	chr12:64000419-64000618	GM12878	blood:	n/a	n/a
3	BHLHE40	chr12:63945192-63945476	K562	blood:	n/a	n/a
4	BRCA1	chr12:63978333-63978494	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr12:64037188-64037554	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr12:64056829-64057077	IMR90	lung:	n/a	chr12:64056989-64057000
7	CEBPB	chr12:64056841-64057129	H1-hESC	embryonic stem cell:	n/a	chr12:64056989-64057000
8	CEBPB	chr12:64056827-64057142	K562	blood:	n/a	chr12:64056989-64057000
9	CEBPB	chr12:63978276-63978475	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr12:64056902-64057024	K562	blood:	n/a	chr12:64056989-64057000
11	CEBPB	chr12:64056875-64057025	Hela-S3	cervix:	n/a	chr12:64056989-64057000
12	CEBPB	chr12:64037247-64037445	IMR90	lung:	n/a	n/a
13	CEBPB	chr12:64056832-64057070	HepG2	liver:	n/a	chr12:64056989-64057000
14	CEBPB	chr12:64020552-64020778	MCF-7	breast:	n/a	n/a
15	CEBPB	chr12:64056829-64057086	A549	lung:	n/a	chr12:64056989-64057000
16	CEBPB	chr12:64056822-64057106	K562	blood:	n/a	chr12:64056989-64057000
17	CEBPB	chr12:63951128-63951259	IMR90	lung:	n/a	n/a
18	CEBPD	chr12:64037519-64037921	K562	blood:	n/a	n/a
19	CHD2	chr12:63945273-63945559	K562	blood:	n/a	n/a
20	CTCF	chr12:63950545-63950604	Kidney_OC	kidney:	n/a	n/a
21	CTCF	chr12:64055759-64055817	GM13977	blood:	n/a	n/a
22	CTCF	chr12:63966275-63966370	MCF-7	breast:	n/a	n/a
23	CTCF	chr12:64004776-64004863	Lung_OC	lung:	n/a	n/a
24	CTCF	chr12:64049268-64049334	GM13976	blood:	n/a	n/a
25	CTCF	chr12:63966661-63966684	MCF-7	breast:	n/a	n/a
26	CTCF	chr12:64041876-64041933	Medullo	brain:	n/a	n/a
27	CTCF	chr12:63966610-63966687	Medullo	brain:	n/a	n/a
28	CTCF	chr12:63966634-63966685	HepG2	liver:	n/a	n/a
29	CTCF	chr12:63939556-63939591	GM10248	blood:	n/a	n/a
30	CTCF	chr12:63988384-63988423	A549	lung:	n/a	n/a
31	CTCF	chr12:63941726-63941828	Fibrobl	skin:	n/a	n/a
32	CTCF	chr12:63976578-63976616	GM20000	blood:	n/a	n/a
33	CTCF	chr12:64037457-64037530	GM13977	blood:	n/a	n/a
34	CTCF	chr12:63988418-63988424	MCF-7	breast:	n/a	n/a
35	CTCF	chr12:63966622-63966719	A549	lung:	n/a	n/a
36	CTCF	chr12:63978674-63978707	GM20000	blood:	n/a	n/a
37	CTCF	chr12:63988425-63988451	MCF-7	breast:	n/a	n/a
38	CTCF	chr12:63996819-63996903	GM10248	blood:	n/a	n/a
39	CTCF	chr12:63966265-63966385	MCF-7	breast:	n/a	n/a
40	CTCF	chr12:63954921-63954975	GM20000	blood:	n/a	n/a
41	CTCF	chr12:63995175-63995200	LNCaP	prostate:	n/a	n/a
42	CTCF	chr12:63958476-63958518	GM13977	blood:	n/a	n/a
43	CTCF	chr12:64000127-64000151	GM10248	blood:	n/a	n/a
44	CTCF	chr12:63998966-63998969	ProgFib	skin:	n/a	n/a
45	CTCF	chr12:64058427-64058493	GM13977	blood:	n/a	n/a
46	CTCF	chr12:63958519-63958521	GM13977	blood:	n/a	n/a
47	CTCF	chr12:63988399-63988434	MCF-7	breast:	n/a	n/a
48	CTCF	chr12:63989475-63989500	GM13977	blood:	n/a	n/a
49	CTCF	chr12:63998896-63998962	ProgFib	skin:	n/a	n/a
50	CTCF	chr12:63966286-63966362	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:63998373-63998423	BJ	skin:	n/a
2	chr12:63998373-63998423	A549	lung:	n/a
3	chr12:63998373-63998423	AG04450	lung:	fetal
4	chr12:63998373-63998423	HMEC	breast:	n/a
5	chr12:63998373-63998423	K562	blood:	n/a
6	chr12:63998373-63998423	LNCaP	prostate:	n/a
7	chr12:63998373-63998423	ovcar-3	ovarian:	n/a
8	chr12:63998373-63998423	HEEpiC	esophagus:	n/a
9	chr12:63998373-63998423	RPTEC	kidney:	n/a
10	chr12:63998373-63998423	HCM	heart:	n/a
11	chr12:63998373-63998423	H1-hESC	embryonic stem cell:	embryo
12	chr12:63998373-63998423	GM12878	blood:	n/a
13	chr12:63998373-63998423	HCT-116	colon:	n/a
14	chr12:63998373-63998423	ECC-1	luminal epithelium:	n/a
15	chr12:63998373-63998423	GM19239	blood:	n/a
16	chr12:63998373-63998423	HRPEpiC	eye:	n/a
17	chr12:63998373-63998423	AG04449	skin:	fetal
18	chr12:63998373-63998423	NT2-D1	testis:	n/a
19	chr12:63998373-63998423	PFSK-1	brain:	n/a
20	chr12:63998373-63998423	NH-A	brain:	n/a
21	chr12:63998373-63998423	BE2_C	brain:	n/a
22	chr12:63998373-63998423	HPAEpiC	pulmonary alveolar:	n/a
23	chr12:63998373-63998423	SKMC	muscle:	n/a
24	chr12:63998373-63998423	MCF-7	breast:	n/a
25	chr12:63998373-63998423	HCF	heart:	n/a
26	chr12:63998373-63998423	NHDF-neo	bronchial:	n/a
27	chr12:63998373-63998423	NHBE	bronchial:	n/a
28	chr12:63998373-63998423	HRCEpiC	kidney:	n/a
29	chr12:63998373-63998423	AoSMC	blood vessel:	n/a
30	chr12:63998373-63998423	AG09309	skin:	n/a
31	chr12:63998373-63998423	SAEC	small airway:	n/a
32	chr12:63998373-63998423	HAEpiC	amniotic membrane:	n/a
33	chr12:63998373-63998423	ProgFib	skin:	n/a
34	chr12:63998373-63998423	MCF10A-Er-Src	breast:	n/a
35	chr12:63998373-63998423	PrEC	prostate:	n/a
36	chr12:63998373-63998423	HepG2	liver:	n/a
37	chr12:63998373-63998423	Hela-S3	cervix:	n/a
38	chr12:63998373-63998423	HRE	kidney:	n/a
39	chr12:63998373-63998423	GM12891	blood:	n/a
40	chr12:63998373-63998423	HNPCEpiC	eye:	n/a
41	chr12:63998373-63998423	IMR90	lung:	fetal
42	chr12:63998373-63998423	Hepatocyte	liver:	n/a
43	chr12:63998373-63998423	SK-N-SH_RA	brain:	n/a
44	chr12:63998373-63998423	Caco-2	colon:	n/a
45	chr12:63998373-63998423	Jurkat	blood:	n/a
46	chr12:63998373-63998423	AG09319	gingival:	n/a
47	chr12:63998373-63998423	AG10803	skin:	n/a
48	chr12:63998373-63998423	NB4	blood:	n/a
49	chr12:63998373-63998423	U87	brain:	n/a
50	chr12:63998373-63998423	PANC-1	pancreas:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:63978668..63979594-chr20:52240028..52240873,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DPY19L2-1	chr12:64017568-64017604	ENSG00000249753.2

No data

Variant related genes	Relation type
ENSG00000257005	TF binding region
DPY19L2	TF binding region
ENSG00000257005	CpG island
DPY19L2	CpG island

Extended variants
information (count: 4963 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:4963 , 50 per page) page: 1 2 3 4 5 6 7 ... 100

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576014631	chr12:63942434-63942435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562897651	chr12:63942485-63942486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs377646315	chr12:63942513-63942514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572163313	chr12:63942598-63942599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11350205	chr12:63942628-63942629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34769426	chr12:63942633-63942634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12301983	chr12:63942649-63942650	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs35745775	chr12:63942650-63942651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543742047	chr12:63942671-63942672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563322829	chr12:63942701-63942702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12811062	chr12:63942704-63942705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs118085355	chr12:63942707-63942708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12368013	chr12:63942723-63942724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532833	chr12:63942738-63942739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528146202	chr12:63942745-63942746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546887283	chr12:63942748-63942749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2659926	chr12:63942767-63942768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs28521148	chr12:63942775-63942776	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs192809404	chr12:63942777-63942778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185493575	chr12:63942804-63942805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369520637	chr12:63942809-63942810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531484292	chr12:63942816-63942817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187865782	chr12:63942825-63942826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148642857	chr12:63942833-63942834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2647735	chr12:63942841-63942842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12303377	chr12:63942848-63942849	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs572249657	chr12:63942859-63942860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs151164183	chr12:63942872-63942873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs377394273	chr12:63942877-63942878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192586637	chr12:63942885-63942886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184215969	chr12:63942907-63942908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543967524	chr12:63942970-63942971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563988504	chr12:63942985-63942986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11831597	chr12:63942996-63942997	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs11175035	chr12:63943036-63943037	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs140365431	chr12:63943070-63943071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528239025	chr12:63943150-63943151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371018148	chr12:63943151-63943152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145440930	chr12:63943184-63943185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4124784	chr12:63943189-63943190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35694808	chr12:63943240-63943241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs61143714	chr12:63943243-63943244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79746689	chr12:63943259-63943260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141063288	chr12:63943269-63943270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550708664	chr12:63943303-63943304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188966299	chr12:63943328-63943329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539342200	chr12:63943349-63943350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs199913514	chr12:63943376-63943377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554327745	chr12:63943383-63943384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181087457	chr12:63943389-63943390	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:192 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63942400-63943800	Enhancers	Fetal Heart	heart
2	chr12:63943800-63969400	Weak transcription	Fetal Heart	heart
3	chr12:63959200-63960800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:63960000-63969200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:63960200-63964200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:63960200-63971200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr12:63960800-63967200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:63962000-64027800	Weak transcription	Ovary	ovary
9	chr12:63962600-63964200	Weak transcription	Left Ventricle	heart
10	chr12:63964200-63964600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:63964200-63965400	Strong transcription	Left Ventricle	heart
12	chr12:63964600-63965200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:63964800-63967200	Weak transcription	Pancreas	Pancrea
14	chr12:63965200-63971200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:63965400-63998800	Weak transcription	Left Ventricle	heart
16	chr12:63967200-63967800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:63967800-63971200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:63968600-63969000	Enhancers	Dnd41	blood
19	chr12:63971200-63971600	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr12:63971200-63971800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:63971200-63972000	Enhancers	Primary hematopoietic stem cells	blood
22	chr12:63971200-63972000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:63971800-63989200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:63972000-63988400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:63986200-63999200	Weak transcription	Fetal Heart	heart
26	chr12:63988200-63988600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:63988400-63989600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:63989600-63990400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:63990400-63990800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:63990800-63997200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:63997200-63997800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:63997800-64012400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:63998800-63999200	Enhancers	Left Ventricle	heart
34	chr12:63999000-63999200	Enhancers	Colon Smooth Muscle	Colon
35	chr12:63999200-63999400	Enhancers	Fetal Heart	heart
36	chr12:63999200-64008600	Weak transcription	Left Ventricle	heart
37	chr12:63999400-63999600	Weak transcription	Fetal Heart	heart
38	chr12:64008200-64009000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:64008600-64008800	Enhancers	Left Ventricle	heart
40	chr12:64008600-64009000	Enhancers	NHDF-Ad	bronchial
41	chr12:64008800-64009400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:64009000-64009800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:64009800-64010000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:64012400-64012800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:64012800-64027400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:64019400-64059000	Weak transcription	Left Ventricle	heart
47	chr12:64020200-64022600	Weak transcription	Right Ventricle	heart
48	chr12:64021800-64022400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:64022400-64027800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:64027400-64031000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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