Variant report

Variant	nsv947066
Chromosome Location	chr1:224123954-224133366
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:224124412-224124623	K562	blood:	n/a	n/a
2	CCNT2	chr1:224124418-224124640	K562	blood:	n/a	n/a
3	CEBPB	chr1:224128087-224128547	K562	blood:	n/a	n/a
4	CEBPD	chr1:224124238-224124681	K562	blood:	n/a	n/a
5	EP300	chr1:224124431-224124631	K562	blood:	n/a	n/a
6	GATA2	chr1:224124288-224124690	K562	blood:	n/a	chr1:224124474-224124484
7	JUN	chr1:224124400-224124618	K562	blood:	n/a	chr1:224124465-224124475 chr1:224124466-224124474 chr1:224124466-224124473 chr1:224124466-224124474
8	JUND	chr1:224124434-224124619	K562	blood:	n/a	chr1:224124465-224124475 chr1:224124466-224124474 chr1:224124466-224124473 chr1:224124466-224124474
9	NR2F2	chr1:224124181-224124722	K562	blood:	n/a	n/a
10	NR2F2	chr1:224124293-224124634	K562	blood:	n/a	n/a
11	NR3C1	chr1:224128103-224128473	A549	lung:	n/a	n/a
12	NR3C1	chr1:224128115-224128477	A549	lung:	n/a	n/a
13	NR3C1	chr1:224128160-224128277	A549	lung:	n/a	n/a
14	PML	chr1:224124432-224124686	K562	blood:	n/a	chr1:224124464-224124473
15	POLR2A	chr1:224124384-224124587	K562	blood:	n/a	n/a
16	STAT5A	chr1:224124195-224124707	K562	blood:	n/a	n/a
17	STAT5A	chr1:224124269-224124593	K562	blood:	n/a	n/a
18	TAL1	chr1:224124400-224124657	K562	blood:	n/a	n/a
19	TEAD4	chr1:224124363-224124643	K562	blood:	n/a	n/a
20	TEAD4	chr1:224124349-224124681	K562	blood:	n/a	n/a
21	TRIM28	chr1:224124221-224124671	K562	blood:	n/a	chr1:224124464-224124473

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:224133090-224133140	Caco-2	colon:	n/a
2	chr1:224133090-224133140	ProgFib	skin:	n/a
3	chr1:224133090-224133140	HUVEC	blood vessel:	n/a
4	chr1:224133090-224133140	HRPEpiC	eye:	n/a
5	chr1:224133090-224133140	AG04450	lung:	fetal
6	chr1:224133090-224133140	AG04449	skin:	fetal
7	chr1:224133090-224133140	HEEpiC	esophagus:	n/a
8	chr1:224133090-224133140	K562	blood:	n/a
9	chr1:224133090-224133140	LNCaP	prostate:	n/a
10	chr1:224133090-224133140	BJ	skin:	n/a
11	chr1:224133090-224133140	NHDF-neo	bronchial:	n/a
12	chr1:224133090-224133140	ovcar-3	ovarian:	n/a
13	chr1:224133090-224133140	HCM	heart:	n/a
14	chr1:224133090-224133140	GM12878	blood:	n/a
15	chr1:224133090-224133140	HRCEpiC	kidney:	n/a
16	chr1:224133090-224133140	SAEC	small airway:	n/a
17	chr1:224133090-224133140	Hela-S3	cervix:	n/a
18	chr1:224133090-224133140	AG09309	skin:	n/a
19	chr1:224133090-224133140	HRE	kidney:	n/a
20	chr1:224133090-224133140	PrEC	prostate:	n/a
21	chr1:224133090-224133140	GM06990	blood:	n/a
22	chr1:224133090-224133140	SK-N-MC	brain:	n/a
23	chr1:224133090-224133140	SKMC	muscle:	n/a
24	chr1:224133090-224133140	Jurkat	blood:	n/a
25	chr1:224133090-224133140	HNPCEpiC	eye:	n/a
26	chr1:224133090-224133140	ECC-1	luminal epithelium:	n/a
27	chr1:224133090-224133140	HIPEpiC	eye:	n/a
28	chr1:224133090-224133140	PANC-1	pancreas:	n/a
29	chr1:224133090-224133140	NH-A	brain:	n/a
30	chr1:224133090-224133140	AG09319	gingival:	n/a
31	chr1:224133090-224133140	A549	lung:	n/a
32	chr1:224133090-224133140	CMK	blood:	n/a
33	chr1:224133090-224133140	NHBE	bronchial:	n/a
34	chr1:224133090-224133140	T-47D	breast:	n/a
35	chr1:224133090-224133140	BE2_C	brain:	n/a
36	chr1:224133090-224133140	AoSMC	blood vessel:	n/a
37	chr1:224133090-224133140	HPAEpiC	pulmonary alveolar:	n/a
38	chr1:224133090-224133140	AG10803	skin:	n/a
39	chr1:224133090-224133140	HCPEpiC	choroid plexus:	n/a
40	chr1:224133090-224133140	NT2-D1	testis:	n/a
41	chr1:224133090-224133140	SK-N-SH	brain:	n/a
42	chr1:224133090-224133140	GM19239	blood:	n/a
43	chr1:224133090-224133140	RPTEC	kidney:	n/a
44	chr1:224133090-224133140	HCT-116	colon:	n/a
45	chr1:224133090-224133140	SK-N-SH_RA	brain:	n/a
46	chr1:224133090-224133140	MCF-7	breast:	n/a
47	chr1:224133090-224133140	GM12892	blood:	n/a
48	chr1:224133090-224133140	MCF10A-Er-Src	breast:	n/a
49	chr1:224133090-224133140	H1-hESC	embryonic stem cell:	embryo
50	chr1:224133090-224133140	Hepatocyte	liver:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224030638..224033175-chr1:224122761..224125405,2	K562	blood:

No data

Variant related genes	Relation type
CICP5	TF binding region
CICP5	CpG island

Extended variants
information (count: 1 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184242981	chr1:224133090-224133091	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Cancer	17060936	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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