Variant report

Variant	nsv520892
Chromosome Location	chr12:42038171-42058138
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	CEBPB	chr12:42055224-42055497	IMR90	lung:	n/a	chr12:42055345-42055356
3	CEBPB	chr12:42048323-42048650	HepG2	liver:	n/a	chr12:42048484-42048495
4	CEBPB	chr12:42047533-42047850	IMR90	lung:	n/a	chr12:42047701-42047712
5	CEBPB	chr12:42047532-42047871	A549	lung:	n/a	chr12:42047701-42047712
6	CEBPB	chr12:42048366-42048659	H1-hESC	embryonic stem cell:	n/a	chr12:42048484-42048495
7	CEBPB	chr12:42055215-42055512	A549	lung:	n/a	chr12:42055345-42055356
8	CEBPB	chr12:42047535-42047891	HepG2	liver:	n/a	chr12:42047701-42047712
9	CEBPB	chr12:42048346-42048651	A549	lung:	n/a	chr12:42048484-42048495
10	CEBPB	chr12:42055176-42055515	HepG2	liver:	n/a	chr12:42055345-42055356
11	CEBPB	chr12:42055220-42055513	H1-hESC	embryonic stem cell:	n/a	chr12:42055345-42055356
12	CEBPB	chr12:42048304-42048583	ECC-1	luminal epithelium:	n/a	chr12:42048484-42048495
13	CEBPB	chr12:42047650-42047825	H1-hESC	embryonic stem cell:	n/a	chr12:42047701-42047712
14	CTCF	chr12:42057142-42057844	SK-N-SH	brain:	n/a	n/a
15	CTCF	chr12:42057340-42057610	HMEC	breast:	n/a	n/a
16	CTCF	chr12:42057462-42057528	K562	blood:	n/a	n/a
17	CTCF	chr12:42057380-42057530	GM12867	blood:	n/a	n/a
18	CTCF	chr12:42057440-42057590	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr12:42057362-42057554	T-47D	breast:	n/a	n/a
20	CTCF	chr12:42057320-42057470	BE2_C	brain:	n/a	n/a
21	CTCF	chr12:42057440-42057590	AG10803	skin:	n/a	n/a
22	CTCF	chr12:42057380-42057530	GM12864	blood:	n/a	n/a
23	CTCF	chr12:42057420-42057570	HRPEpiC	eye:	n/a	n/a
24	CTCF	chr12:42057400-42057550	BJ	skin:	n/a	n/a
25	CTCF	chr12:42057378-42057590	HepG2	liver:	n/a	n/a
26	CTCF	chr12:42057380-42057530	HL-60	blood:	n/a	n/a
27	CTCF	chr12:42057420-42057570	AG10803	skin:	n/a	n/a
28	CTCF	chr12:42057431-42057568	ProgFib	skin:	n/a	n/a
29	CTCF	chr12:42057400-42057550	NHEK	skin:	n/a	n/a
30	CTCF	chr12:42057440-42057590	NHEK	skin:	n/a	n/a
31	CTCF	chr12:42057420-42057570	AG09319	gingival:	n/a	n/a
32	CTCF	chr12:42057401-42057603	Medullo	brain:	n/a	n/a
33	CTCF	chr12:42057460-42057610	HCFaa	heart:	n/a	n/a
34	CTCF	chr12:42057349-42057597	HepG2	liver:	n/a	n/a
35	CTCF	chr12:42057460-42057610	HAc	cerebellar:	n/a	n/a
36	CTCF	chr12:42057460-42057610	HA-sp	spinal cord:	n/a	n/a
37	CTCF	chr12:42057380-42057530	GM12866	blood:	n/a	n/a
38	CTCF	chr12:42057360-42057510	AG09309	skin:	n/a	n/a
39	CTCF	chr12:42057420-42057536	Fibrobl	skin:	n/a	n/a
40	CTCF	chr12:42057480-42057630	HFF-Myc	foreskin:	n/a	n/a
41	CTCF	chr12:42057440-42057590	AG09319	gingival:	n/a	n/a
42	CTCF	chr12:42057400-42057550	HMF	breast:	n/a	n/a
43	CTCF	chr12:42057380-42057530	AG04449	skin:	n/a	n/a
44	CTCF	chr12:42057324-42057586	ECC-1	luminal epithelium:	n/a	n/a
45	CTCF	chr12:42057320-42057470	HA-sp	spinal cord:	n/a	n/a
46	CTCF	chr12:42057420-42057570	GM12868	blood:	n/a	n/a
47	CTCF	chr12:42057440-42057590	AG04450	lung:	n/a	n/a
48	CTCF	chr12:42057334-42057632	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr12:42057440-42057590	GM06990	blood:	n/a	n/a
50	CTCF	chr12:42057281-42057871	A549	lung:	n/a	n/a

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

Variant related genes	Relation type
RNA5SP360	TF binding region

Extended variants
information (count: 720 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:720 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

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:59)

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

Chromatin state (count:29 , 50 per page) page: 1

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

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