Variant report

Variant	nsv1050885
Chromosome Location	chr12:33507661-33568938
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:111)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:111 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr12:33536437-33536460	K562	blood:	n/a	n/a
2	CEBPB	chr12:33520824-33521073	HepG2	liver:	n/a	chr12:33520921-33520932
3	CEBPB	chr12:33532106-33532294	HepG2	liver:	n/a	chr12:33532186-33532197
4	CEBPB	chr12:33508141-33508270	HepG2	liver:	n/a	n/a
5	CEBPB	chr12:33529107-33529534	IMR90	lung:	n/a	chr12:33529283-33529294
6	CEBPB	chr12:33529072-33529512	MCF-7	breast:	n/a	chr12:33529283-33529294
7	CEBPB	chr12:33529153-33529455	Hela-S3	cervix:	n/a	chr12:33529283-33529294
8	CEBPB	chr12:33529190-33529465	HepG2	liver:	n/a	chr12:33529283-33529294
9	CEBPB	chr12:33547465-33547674	HepG2	liver:	n/a	n/a
10	CEBPB	chr12:33547502-33547698	A549	lung:	n/a	n/a
11	CEBPB	chr12:33524874-33525094	HepG2	liver:	n/a	chr12:33524963-33524974
12	CEBPB	chr12:33520842-33521028	A549	lung:	n/a	chr12:33520921-33520932
13	CEBPB	chr12:33529111-33529474	K562	blood:	n/a	chr12:33529283-33529294
14	CEBPB	chr12:33529114-33529466	H1-hESC	embryonic stem cell:	n/a	chr12:33529283-33529294
15	CEBPB	chr12:33529126-33529471	ECC-1	luminal epithelium:	n/a	chr12:33529283-33529294
16	CTCF	chr12:33516700-33516850	MCF-7	breast:	n/a	n/a
17	CTCF	chr12:33555774-33555844	K562	blood:	n/a	n/a
18	CTCF	chr12:33516824-33516964	MCF-7	breast:	n/a	n/a
19	CTCF	chr12:33531340-33531490	NHEK	skin:	n/a	n/a
20	CTCF	chr12:33516820-33516970	MCF-7	breast:	n/a	n/a
21	CTCF	chr12:33531180-33531330	HRPEpiC	eye:	n/a	n/a
22	CTCF	chr12:33516839-33516956	MCF-7	breast:	n/a	n/a
23	CTCF	chr12:33562539-33562597	MCF-7	breast:	n/a	n/a
24	CTCF	chr12:33516813-33516975	MCF-7	breast:	n/a	n/a
25	CTCF	chr12:33562530-33562650	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr12:33531360-33531510	NHEK	skin:	n/a	n/a
27	CTCF	chr12:33516788-33517018	MCF-7	breast:	n/a	n/a
28	CTCF	chr12:33510300-33510450	Caco-2	colon:	n/a	n/a
29	CTCF	chr12:33562582-33562607	MCF-7	breast:	n/a	n/a
30	CTCF	chr12:33516808-33517001	MCF-7	breast:	n/a	n/a
31	CTCF	chr12:33542820-33542970	Caco-2	colon:	n/a	n/a
32	CTCF	chr12:33531280-33531430	MCF-7	breast:	n/a	n/a
33	CTCF	chr12:33562556-33562599	MCF-7	breast:	n/a	n/a
34	CTCF	chr12:33545000-33545150	MCF-7	breast:	n/a	n/a
35	CTCF	chr12:33531200-33531350	HMEC	breast:	n/a	n/a
36	CTCF	chr12:33540752-33540796	Fibrobl	skin:	n/a	n/a
37	CTCF	chr12:33531280-33531430	Caco-2	colon:	n/a	n/a
38	CTCF	chr12:33509540-33509690	Caco-2	colon:	n/a	n/a
39	CUX1	chr12:33511576-33511609	K562	blood:	n/a	n/a
40	E2F4	chr12:33516375-33516441	MCF10A-Er-Src	breast:	n/a	n/a
41	E2F4	chr12:33509066-33509239	MCF10A-Er-Src	breast:	n/a	n/a
42	FAM48A	chr12:33522131-33522269	GM12878	blood:	n/a	n/a
43	FAM48A	chr12:33536571-33536738	GM12878	blood:	n/a	n/a
44	FOS	chr12:33509519-33509823	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr12:33509537-33510031	MCF10A-Er-Src	breast:	n/a	chr12:33509932-33509939 chr12:33509928-33509937 chr12:33509930-33509941
46	FOS	chr12:33509538-33509826	MCF10A-Er-Src	breast:	n/a	n/a
47	FOSL2	chr12:33523256-33523639	MCF-7	breast:	n/a	chr12:33523369-33523381 chr12:33523613-33523620 chr12:33523611-33523622 chr12:33523376-33523384
48	FOXA1	chr12:33560032-33560348	T-47D	breast:	n/a	n/a
49	FOXA1	chr12:33560090-33560319	T-47D	breast:	n/a	n/a
50	GATA3	chr12:33561821-33562037	SH-SY5Y	brain:	n/a	chr12:33561922-33561932 chr12:33561922-33561930 chr12:33561923-33561932 chr12:33561919-33561935 chr12:33561916-33561937 chr12:33561923-33561930

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:33528782-33528832	HMEC	breast:	n/a
2	chr12:33528782-33528832	ECC-1	luminal epithelium:	n/a
3	chr12:33528782-33528832	HPAEpiC	pulmonary alveolar:	n/a
4	chr12:33528782-33528832	HEEpiC	esophagus:	n/a
5	chr12:33528782-33528832	GM12878	blood:	n/a
6	chr12:33528782-33528832	NHBE	bronchial:	n/a
7	chr12:33528782-33528832	LNCaP	prostate:	n/a
8	chr12:33528782-33528832	GM12891	blood:	n/a
9	chr12:33528782-33528832	Caco-2	colon:	n/a
10	chr12:33528782-33528832	HRCEpiC	kidney:	n/a
11	chr12:33528782-33528832	BE2_C	brain:	n/a
12	chr12:33528782-33528832	MCF-7	breast:	n/a
13	chr12:33528782-33528832	RPTEC	kidney:	n/a
14	chr12:33528782-33528832	HCF	heart:	n/a
15	chr12:33528782-33528832	HepG2	liver:	n/a
16	chr12:33528782-33528832	HCM	heart:	n/a
17	chr12:33528782-33528832	GM19239	blood:	n/a
18	chr12:33528782-33528832	AG09319	gingival:	n/a
19	chr12:33528782-33528832	PANC-1	pancreas:	n/a
20	chr12:33528782-33528832	AG04450	lung:	fetal
21	chr12:33528782-33528832	SK-N-SH_RA	brain:	n/a
22	chr12:33528782-33528832	ovcar-3	ovarian:	n/a
23	chr12:33528782-33528832	AG09309	skin:	n/a
24	chr12:33528782-33528832	IMR90	lung:	fetal
25	chr12:33528782-33528832	BJ	skin:	n/a
26	chr12:33528782-33528832	U87	brain:	n/a
27	chr12:33528782-33528832	Hepatocyte	liver:	n/a
28	chr12:33528782-33528832	HL-60	blood:	n/a
29	chr12:33528782-33528832	GM06990	blood:	n/a
30	chr12:33528782-33528832	Jurkat	blood:	n/a
31	chr12:33528782-33528832	HCT-116	colon:	n/a
32	chr12:33528782-33528832	ProgFib	skin:	n/a
33	chr12:33528782-33528832	T-47D	breast:	n/a
34	chr12:33528782-33528832	SAEC	small airway:	n/a
35	chr12:33528782-33528832	Hela-S3	cervix:	n/a
36	chr12:33528782-33528832	K562	blood:	n/a
37	chr12:33528782-33528832	A549	lung:	n/a
38	chr12:33528782-33528832	HRPEpiC	eye:	n/a
39	chr12:33528782-33528832	NT2-D1	testis:	n/a
40	chr12:33528782-33528832	AG10803	skin:	n/a
41	chr12:33528782-33528832	HEK293	kidney:	embryo
42	chr12:33528782-33528832	NH-A	brain:	n/a
43	chr12:33528782-33528832	SK-N-MC	brain:	n/a
44	chr12:33528782-33528832	PFSK-1	brain:	n/a
45	chr12:33528782-33528832	SKMC	muscle:	n/a
46	chr12:33528782-33528832	MCF10A-Er-Src	breast:	n/a
47	chr12:33528782-33528832	NB4	blood:	n/a
48	chr12:33528782-33528832	PrEC	prostate:	n/a
49	chr12:33528782-33528832	H1-hESC	embryonic stem cell:	embryo
50	chr12:33528782-33528832	AG04449	skin:	fetal

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:33568450..33571114-chr12:33575254..33577909,2	K562	blood:
2	chr12:33555550..33557717-chr12:33560120..33561805,2	K562	blood:
3	chr12:33513997..33516568-chr12:33519411..33521464,2	MCF-7	breast:
4	chr12:33538532..33540050-chr12:33561297..33564273,2	MCF-7	breast:
5	chr12:33531068..33531588-chr4:124485616..124486233,2	MCF-7	breast:
6	chr12:33503016..33505110-chr12:33507527..33510492,2	MCF-7	breast:
7	chr12:33538532..33540050-chr12:33561297..33564273,2	MCF-7	breast:
8	chr12:33555550..33557717-chr12:33560120..33561805,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PKP2-2	chr12:33560733-33561253	NONHSAT027643
2	lnc-PKP2-1	chr12:33557810-33558831	ENSG00000259937.1

No data

Variant related genes	Relation type
ENSG00000251863	TF binding region
ENSG00000265029	TF binding region
ENSG00000259937	TF binding region
ENSG00000251863	CpG island
ENSG00000265029	CpG island
ENSG00000259937	CpG island
ENSG00000251863	chromatin interactions

Extended variants
information (count: 1066 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1066 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532779738	chr12:33510415-33510416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs6488154	chr12:33510417-33510418	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs566419668	chr12:33510459-33510460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181217289	chr12:33510502-33510503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549183617	chr12:33510506-33510507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569071491	chr12:33510537-33510538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6488155	chr12:33510547-33510548	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs535428800	chr12:33510560-33510561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368023971	chr12:33510592-33510593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185710847	chr12:33510610-33510611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533926812	chr12:33510625-33510626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553634841	chr12:33510632-33510633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141152305	chr12:33510635-33510636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191798144	chr12:33510641-33510642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574203663	chr12:33510692-33510693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543103137	chr12:33510775-33510776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114626169	chr12:33510782-33510783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575506007	chr12:33510846-33510847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571939230	chr12:33510892-33510893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564207860	chr12:33510895-33510896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148082539	chr12:33510928-33510929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375044995	chr12:33510988-33510989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554202804	chr12:33511006-33511007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546297505	chr12:33511074-33511075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116744229	chr12:33511094-33511095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528968620	chr12:33511108-33511109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181896545	chr12:33511109-33511110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554436767	chr12:33511264-33511265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76033131	chr12:33511265-33511266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569157250	chr12:33511269-33511270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531780327	chr12:33511289-33511290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11052637	chr12:33511327-33511328	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs375896017	chr12:33511336-33511337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563907622	chr12:33511399-33511400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368731428	chr12:33511401-33511402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534478794	chr12:33511410-33511411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116893865	chr12:33511477-33511478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567616814	chr12:33511499-33511500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142882701	chr12:33511505-33511506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556685184	chr12:33511568-33511569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12308361	chr12:33511610-33511611	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs544053032	chr12:33511662-33511663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557903628	chr12:33511698-33511699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187280949	chr12:33511727-33511728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4931716	chr12:33511731-33511732	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs559724203	chr12:33511738-33511739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535255347	chr12:33511744-33511745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528856453	chr12:33511748-33511749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs377223107	chr12:33511770-33511771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562229803	chr12:33511775-33511776	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Schizophrenia	20967226	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33510400-33510600	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr12:33510600-33511600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr12:33511600-33512000	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr12:33511800-33512200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr12:33511800-33512200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr12:33525600-33534600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:33534600-33535400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:33535400-33536600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:33536600-33536800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:33536800-33537200	Enhancers	Brain Cingulate Gyrus	brain
11	chr12:33536800-33537600	Enhancers	Brain Germinal Matrix	brain
12	chr12:33537800-33540000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:33542600-33543000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr12:33543000-33544400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:33544400-33545400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr12:33566400-33575400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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