Variant report

Variant	nsv558701
Chromosome Location	chr12:42038171-42105409
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:411)
CpG islands
(count:184)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:411 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:42056903-42057146	HepG2	liver:	n/a	n/a
2	BCL3	chr12:42103418-42103977	A549	lung:	n/a	n/a
3	BCL3	chr12:42103441-42104095	A549	lung:	n/a	n/a
4	CEBPB	chr12:42047533-42047850	IMR90	lung:	n/a	chr12:42047701-42047712
5	CEBPB	chr12:42055220-42055513	H1-hESC	embryonic stem cell:	n/a	chr12:42055345-42055356
6	CEBPB	chr12:42047535-42047891	HepG2	liver:	n/a	chr12:42047701-42047712
7	CEBPB	chr12:42055176-42055515	HepG2	liver:	n/a	chr12:42055345-42055356
8	CEBPB	chr12:42103313-42103593	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr12:42081238-42081500	IMR90	lung:	n/a	chr12:42081352-42081363
10	CEBPB	chr12:42047650-42047825	H1-hESC	embryonic stem cell:	n/a	chr12:42047701-42047712
11	CEBPB	chr12:42048323-42048650	HepG2	liver:	n/a	chr12:42048484-42048495
12	CEBPB	chr12:42091125-42091297	HepG2	liver:	n/a	n/a
13	CEBPB	chr12:42098952-42099014	HepG2	liver:	n/a	chr12:42098982-42098993
14	CEBPB	chr12:42103313-42104091	A549	lung:	n/a	n/a
15	CEBPB	chr12:42048304-42048583	ECC-1	luminal epithelium:	n/a	chr12:42048484-42048495
16	CEBPB	chr12:42055224-42055497	IMR90	lung:	n/a	chr12:42055345-42055356
17	CEBPB	chr12:42081221-42081510	HepG2	liver:	n/a	chr12:42081352-42081363
18	CEBPB	chr12:42048346-42048651	A549	lung:	n/a	chr12:42048484-42048495
19	CEBPB	chr12:42048366-42048659	H1-hESC	embryonic stem cell:	n/a	chr12:42048484-42048495
20	CEBPB	chr12:42103206-42104091	A549	lung:	n/a	n/a
21	CEBPB	chr12:42103291-42104109	A549	lung:	n/a	n/a
22	CEBPB	chr12:42081184-42081508	A549	lung:	n/a	chr12:42081352-42081363
23	CEBPB	chr12:42047532-42047871	A549	lung:	n/a	chr12:42047701-42047712
24	CEBPB	chr12:42055215-42055512	A549	lung:	n/a	chr12:42055345-42055356
25	CTCF	chr12:42078940-42079090	NHEK	skin:	n/a	n/a
26	CTCF	chr12:42057380-42057530	GM12864	blood:	n/a	n/a
27	CTCF	chr12:42057263-42057736	HCT-116	colon:	n/a	n/a
28	CTCF	chr12:42057360-42057510	BE2_C	brain:	n/a	n/a
29	CTCF	chr12:42075360-42075510	GM12871	blood:	n/a	n/a
30	CTCF	chr12:42078900-42079050	Caco-2	colon:	n/a	n/a
31	CTCF	chr12:42057401-42057603	Medullo	brain:	n/a	n/a
32	CTCF	chr12:42078920-42079070	NHDF-neo	bronchial:	n/a	n/a
33	CTCF	chr12:42088720-42088870	Caco-2	colon:	n/a	n/a
34	CTCF	chr12:42075800-42075950	HRPEpiC	eye:	n/a	chr12:42075863-42075872 chr12:42075860-42075873
35	CTCF	chr12:42057334-42057632	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr12:42057420-42057570	HEEpiC	esophagus:	n/a	n/a
37	CTCF	chr12:42057142-42057844	SK-N-SH	brain:	n/a	n/a
38	CTCF	chr12:42057362-42057554	T-47D	breast:	n/a	n/a
39	CTCF	chr12:42075845-42075906	H1-hESC	embryonic stem cell:	n/a	chr12:42075863-42075872 chr12:42075860-42075873
40	CTCF	chr12:42095800-42095950	NHEK	skin:	n/a	n/a
41	CTCF	chr12:42057400-42057550	NHEK	skin:	n/a	n/a
42	CTCF	chr12:42088792-42088854	A549	lung:	n/a	n/a
43	CTCF	chr12:42047490-42047526	GM13976	blood:	n/a	n/a
44	CTCF	chr12:42078920-42079070	Caco-2	colon:	n/a	n/a
45	CTCF	chr12:42057431-42057568	ProgFib	skin:	n/a	n/a
46	CTCF	chr12:42075880-42076030	RPTEC	kidney:	n/a	n/a
47	CTCF	chr12:42057460-42057610	HAc	cerebellar:	n/a	n/a
48	CTCF	chr12:42075820-42075970	HRE	kidney:	n/a	chr12:42075863-42075872 chr12:42075860-42075873
49	CTCF	chr12:42078860-42079010	HBMEC	blood vessel:	n/a	n/a
50	CTCF	chr12:42057400-42057550	A549	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:42066448-42066498	HCM	heart:	n/a
2	chr12:42066448-42066498	HCM	heart:	n/a
3	chr12:42066448-42066498	AG04449	skin:	fetal
4	chr12:42066517-42066567	Hepatocyte	liver:	n/a
5	chr12:42066517-42066567	HRCEpiC	kidney:	n/a
6	chr12:42066517-42066567	NHDF-neo	bronchial:	n/a
7	chr12:42066517-42066567	ProgFib	skin:	n/a
8	chr12:42102842-42102892	HMEC	breast:	n/a
9	chr12:42102842-42102892	GM12878	blood:	n/a
10	chr12:42066517-42066567	GM12891	blood:	n/a
11	chr12:42066448-42066498	HL-60	blood:	n/a
12	chr12:42066517-42066567	HRE	kidney:	n/a
13	chr12:42066517-42066567	PFSK-1	brain:	n/a
14	chr12:42066448-42066498	GM12878	blood:	n/a
15	chr12:42066448-42066498	CMK	blood:	n/a
16	chr12:42066517-42066567	A549	lung:	n/a
17	chr12:42066517-42066567	ECC-1	luminal epithelium:	n/a
18	chr12:42066448-42066498	AG04450	lung:	fetal
19	chr12:42066448-42066498	Jurkat	blood:	n/a
20	chr12:42066448-42066498	HIPEpiC	eye:	n/a
21	chr12:42066448-42066498	GM12892	blood:	n/a
22	chr12:42102842-42102892	HRCEpiC	kidney:	n/a
23	chr12:42066448-42066498	HAEpiC	amniotic membrane:	n/a
24	chr12:42102842-42102892	HPAEpiC	pulmonary alveolar:	n/a
25	chr12:42066448-42066498	K562	blood:	n/a
26	chr12:42066517-42066567	SAEC	small airway:	n/a
27	chr12:42102842-42102892	SAEC	small airway:	n/a
28	chr12:42102842-42102892	AG04450	lung:	fetal
29	chr12:42102842-42102892	PrEC	prostate:	n/a
30	chr12:42066448-42066498	NHBE	bronchial:	n/a
31	chr12:42066517-42066567	AG04449	skin:	fetal
32	chr12:42102842-42102892	HL-60	blood:	n/a
33	chr12:42066517-42066567	HPAEpiC	pulmonary alveolar:	n/a
34	chr12:42066517-42066567	NB4	blood:	n/a
35	chr12:42102842-42102892	HCT-116	colon:	n/a
36	chr12:42066448-42066498	HepG2	liver:	n/a
37	chr12:42066517-42066567	GM12892	blood:	n/a
38	chr12:42102842-42102892	NH-A	brain:	n/a
39	chr12:42066448-42066498	RPTEC	kidney:	n/a
40	chr12:42102842-42102892	SK-N-SH_RA	brain:	n/a
41	chr12:42066517-42066567	HNPCEpiC	eye:	n/a
42	chr12:42066517-42066567	AG10803	skin:	n/a
43	chr12:42066517-42066567	GM06990	blood:	n/a
44	chr12:42066517-42066567	AG09309	skin:	n/a
45	chr12:42102842-42102892	HCPEpiC	choroid plexus:	n/a
46	chr12:42102842-42102892	Hepatocyte	liver:	n/a
47	chr12:42066517-42066567	Hela-S3	cervix:	n/a
48	chr12:42066517-42066567	HL-60	blood:	n/a
49	chr12:42066517-42066567	AoSMC	blood vessel:	n/a
50	chr12:42066448-42066498	SKMC	muscle:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:41761640..41762189-chr12:42057012..42057853,2	MCF-7	breast:
2	chr12:42040861..42043664-chr12:42053965..42056678,2	K562	blood:
3	chr12:41670983..41671656-chr12:42057034..42057781,2	MCF-7	breast:
4	chr12:42040861..42043664-chr12:42053965..42056678,2	K562	blood:

No data

Variant related genes	Relation type
RNA5SP360	TF binding region
MTND2P17	TF binding region
MTND1P24	TF binding region
RNA5SP360	CpG island
MTND2P17	CpG island
MTND1P24	CpG island

Extended variants
information (count: 1420 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1420 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs287070	chr12:42038171-42038172	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs11181069	chr12:42038191-42038192	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs11181070	chr12:42038201-42038202	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs185514972	chr12:42038251-42038252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565066790	chr12:42038289-42038290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576771814	chr12:42038328-42038329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544089809	chr12:42038337-42038338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369203345	chr12:42038385-42038386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs287071	chr12:42038441-42038442	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs142180642	chr12:42038444-42038445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372257849	chr12:42038451-42038452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187971606	chr12:42038461-42038462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576115470	chr12:42038466-42038467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560006766	chr12:42038511-42038512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569799215	chr12:42038532-42038533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537093794	chr12:42038533-42038534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527364738	chr12:42038566-42038567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552525325	chr12:42038576-42038577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531786021	chr12:42038685-42038686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540338304	chr12:42038692-42038693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111578951	chr12:42038761-42038762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577050715	chr12:42038860-42038861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs57751766	chr12:42038916-42038917	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs568726009	chr12:42038940-42038941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535876281	chr12:42038965-42038966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140373787	chr12:42038971-42038972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541205001	chr12:42038996-42038997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572473258	chr12:42039012-42039013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539916576	chr12:42039030-42039031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558510064	chr12:42039122-42039123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79445412	chr12:42039252-42039253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369803927	chr12:42039253-42039254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535479783	chr12:42039291-42039292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556060288	chr12:42039305-42039306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371830186	chr12:42039369-42039370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149958596	chr12:42039372-42039373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2029833	chr12:42039386-42039387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs60186820	chr12:42039390-42039391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373116648	chr12:42039391-42039392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61940441	chr12:42039405-42039406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs61940442	chr12:42039409-42039410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574646930	chr12:42039413-42039414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200357714	chr12:42039417-42039418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541772848	chr12:42039425-42039426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7487025	chr12:42039454-42039455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7484743	chr12:42039462-42039463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11181072	chr12:42039470-42039471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376401442	chr12:42039497-42039498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77625639	chr12:42039498-42039499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35327627	chr12:42039500-42039501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
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
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42038000-42042200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:42039800-42041400	Enhancers	Brain Anterior Caudate	brain
3	chr12:42039800-42041400	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr12:42039800-42041600	Enhancers	Brain Substantia Nigra	brain
5	chr12:42040000-42041400	Enhancers	Brain Cingulate Gyrus	brain
6	chr12:42040400-42041600	Enhancers	Brain Hippocampus Middle	brain
7	chr12:42040800-42041200	Enhancers	Brain Angular Gyrus	brain
8	chr12:42041000-42041200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:42042200-42042600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:42044600-42045000	Enhancers	Fetal Brain Male	brain
11	chr12:42044800-42046400	Enhancers	Brain Germinal Matrix	brain
12	chr12:42045000-42052600	Weak transcription	Fetal Brain Male	brain
13	chr12:42046800-42048800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr12:42047600-42048600	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr12:42052600-42053000	Enhancers	Fetal Brain Male	brain
16	chr12:42053000-42055000	Weak transcription	Fetal Brain Male	brain
17	chr12:42053800-42054400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:42054400-42055400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:42054600-42055000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:42054800-42055400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:42055000-42056200	Enhancers	Fetal Brain Male	brain
22	chr12:42055000-42058600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr12:42055400-42056000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:42056000-42057600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:42056200-42058600	Weak transcription	Fetal Brain Male	brain
26	chr12:42057200-42057800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr12:42057400-42057800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr12:42057400-42057800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr12:42057600-42058000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:42058600-42058800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr12:42065200-42067600	Weak transcription	Right Atrium	heart
32	chr12:42065800-42066600	Active TSS	H9 Cell Line	embryonic stem cell
33	chr12:42065800-42066800	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr12:42068800-42069000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
35	chr12:42074800-42076000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr12:42075400-42075600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:42075600-42076600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:42076600-42078000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:42081200-42081800	Enhancers	Fetal Brain Male	brain
40	chr12:42081200-42082000	Enhancers	Fetal Brain Female	brain
41	chr12:42089800-42090400	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr12:42090200-42091600	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr12:42090400-42091400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr12:42090800-42091000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr12:42091200-42092200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr12:42091400-42091800	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr12:42092200-42092600	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr12:42092400-42092800	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr12:42094000-42094600	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr12:42094400-42095200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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