Variant report

Variant	nsv945320
Chromosome Location	chr1:224223816-224228051
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:224225266-224225295	K562	blood:	n/a	n/a
2	BATF	chr1:224223656-224223852	GM12878	blood:	n/a	chr1:224223690-224223700
3	CBX3	chr1:224224984-224225484	K562	blood:	n/a	n/a
4	CEBPB	chr1:224225438-224225638	IMR90	lung:	n/a	n/a
5	CEBPB	chr1:224225448-224225623	A549	lung:	n/a	n/a
6	CEBPB	chr1:224225002-224225648	K562	blood:	n/a	n/a
7	CEBPB	chr1:224225290-224225590	K562	blood:	n/a	n/a
8	CEBPB	chr1:224225457-224225635	HepG2	liver:	n/a	n/a
9	CEBPB	chr1:224225413-224225664	K562	blood:	n/a	n/a
10	CEBPD	chr1:224225005-224225370	K562	blood:	n/a	n/a
11	EP300	chr1:224225112-224225298	K562	blood:	n/a	n/a
12	GATA2	chr1:224224920-224225521	K562	blood:	n/a	n/a
13	GATA2	chr1:224223993-224224247	K562	blood:	n/a	n/a
14	HEY1	chr1:224224056-224224295	K562	blood:	n/a	n/a
15	IRF1	chr1:224225262-224225283	K562	blood:	n/a	n/a
16	JUND	chr1:224225110-224225285	K562	blood:	n/a	n/a
17	MAFF	chr1:224225091-224225299	K562	blood:	n/a	n/a
18	MAFK	chr1:224225091-224225296	K562	blood:	n/a	n/a
19	MYC	chr1:224225096-224225284	K562	blood:	n/a	n/a
20	PAX5	chr1:224223976-224224272	GM12878	blood:	n/a	n/a
21	POLR2A	chr1:224227223-224227379	Gliobla	brain:	n/a	n/a
22	POLR2A	chr1:224223959-224224348	GM12878	blood:	n/a	n/a
23	POLR2A	chr1:224227327-224227726	GM12878	blood:	n/a	n/a
24	POLR2A	chr1:224227049-224227082	K562	blood:	n/a	n/a
25	POU2F2	chr1:224224061-224224341	GM12878	blood:	n/a	n/a
26	STAT5A	chr1:224224939-224225580	K562	blood:	n/a	n/a
27	STAT5A	chr1:224225048-224225414	K562	blood:	n/a	n/a
28	TAL1	chr1:224225099-224225454	K562	blood:	n/a	n/a
29	TRIM28	chr1:224225107-224225408	K562	blood:	n/a	n/a
30	TRIM28	chr1:224224938-224225534	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:224224049-224224099	MCF10A-Er-Src	breast:	n/a
2	chr1:224224049-224224099	U87	brain:	n/a
3	chr1:224224049-224224099	HRPEpiC	eye:	n/a
4	chr1:224224049-224224099	HepG2	liver:	n/a
5	chr1:224224049-224224099	GM06990	blood:	n/a
6	chr1:224224049-224224099	HCM	heart:	n/a
7	chr1:224224049-224224099	SKMC	muscle:	n/a
8	chr1:224224049-224224099	ECC-1	luminal epithelium:	n/a
9	chr1:224224049-224224099	MCF-7	breast:	n/a
10	chr1:224224049-224224099	H1-hESC	embryonic stem cell:	embryo
11	chr1:224224049-224224099	NT2-D1	testis:	n/a
12	chr1:224224049-224224099	HEEpiC	esophagus:	n/a
13	chr1:224224049-224224099	AG09309	skin:	n/a
14	chr1:224224049-224224099	HRCEpiC	kidney:	n/a
15	chr1:224224049-224224099	NHBE	bronchial:	n/a
16	chr1:224224049-224224099	AG09319	gingival:	n/a
17	chr1:224224049-224224099	AoSMC	blood vessel:	n/a
18	chr1:224224049-224224099	ovcar-3	ovarian:	n/a
19	chr1:224224049-224224099	T-47D	breast:	n/a
20	chr1:224224049-224224099	ProgFib	skin:	n/a
21	chr1:224224049-224224099	BE2_C	brain:	n/a
22	chr1:224224049-224224099	BJ	skin:	n/a
23	chr1:224224049-224224099	HCF	heart:	n/a
24	chr1:224224049-224224099	HCPEpiC	choroid plexus:	n/a
25	chr1:224224049-224224099	A549	lung:	n/a
26	chr1:224224049-224224099	HMEC	breast:	n/a
27	chr1:224224049-224224099	K562	blood:	n/a
28	chr1:224224049-224224099	HPAEpiC	pulmonary alveolar:	n/a
29	chr1:224224049-224224099	Jurkat	blood:	n/a
30	chr1:224224049-224224099	PANC-1	pancreas:	n/a
31	chr1:224224049-224224099	CMK	blood:	n/a
32	chr1:224224049-224224099	SK-N-MC	brain:	n/a
33	chr1:224224049-224224099	HEK293	kidney:	embryo
34	chr1:224224049-224224099	HUVEC	blood vessel:	n/a
35	chr1:224224049-224224099	NH-A	brain:	n/a
36	chr1:224224049-224224099	Caco-2	colon:	n/a
37	chr1:224224049-224224099	SK-N-SH_RA	brain:	n/a
38	chr1:224224049-224224099	GM12892	blood:	n/a
39	chr1:224224049-224224099	NB4	blood:	n/a
40	chr1:224224049-224224099	NHDF-neo	bronchial:	n/a
41	chr1:224224049-224224099	HRE	kidney:	n/a
42	chr1:224224049-224224099	Hela-S3	cervix:	n/a
43	chr1:224224049-224224099	LNCaP	prostate:	n/a
44	chr1:224224049-224224099	GM19239	blood:	n/a
45	chr1:224224049-224224099	AG10803	skin:	n/a
46	chr1:224224049-224224099	HAEpiC	amniotic membrane:	n/a
47	chr1:224224049-224224099	PFSK-1	brain:	n/a
48	chr1:224224049-224224099	HCT-116	colon:	n/a
49	chr1:224224049-224224099	HL-60	blood:	n/a
50	chr1:224224049-224224099	PrEC	prostate:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224227960..224229471-chr1:224345929..224348019,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000229930	TF binding region
ENSG00000229930	CpG island

Extended variants
information (count: 142 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552687297	chr1:224223832-224223833	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs549390252	chr1:224223949-224223950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200211763	chr1:224223978-224223979	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs4601554	chr1:224224021-224224022	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs2488499	chr1:224224031-224224032	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs2488498	chr1:224224049-224224050	Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs2488497	chr1:224224062-224224063	Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs11487476	chr1:224224096-224224097	Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs571874064	chr1:224224098-224224099	Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs539133694	chr1:224224129-224224130	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs554350594	chr1:224224263-224224264	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs2488495	chr1:224224474-224224475	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs536617423	chr1:224224593-224224594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191911765	chr1:224224619-224224620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573837423	chr1:224224629-224224630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs61823340	chr1:224224636-224224637	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs3991932	chr1:224224709-224224710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577455396	chr1:224224723-224224724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs28557176	chr1:224224730-224224731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4463632	chr1:224224739-224224740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113277687	chr1:224224753-224224754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559843405	chr1:224224865-224224866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527399676	chr1:224224888-224224889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs377092223	chr1:224224890-224224891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs202232343	chr1:224224901-224224902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs57215580	chr1:224224904-224224905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542579900	chr1:224224966-224224967	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs371071715	chr1:224224996-224224997	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs560723846	chr1:224225047-224225048	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs531990606	chr1:224225071-224225072	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs550245518	chr1:224225160-224225161	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs571863878	chr1:224225276-224225277	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs59305941	chr1:224225389-224225390	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs149345915	chr1:224225393-224225394	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
35	rs139851796	chr1:224225424-224225425	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs149829092	chr1:224225425-224225426	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs576817766	chr1:224225478-224225479	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs539148822	chr1:224225482-224225483	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs554911543	chr1:224225489-224225490	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs569993472	chr1:224225493-224225494	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs538140847	chr1:224225502-224225503	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs556213329	chr1:224225524-224225525	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs577400679	chr1:224225587-224225588	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs2488492	chr1:224225598-224225599	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs544770814	chr1:224225657-224225658	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs553572739	chr1:224225676-224225677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571760093	chr1:224225677-224225678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148637251	chr1:224225700-224225701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144350411	chr1:224225705-224225706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78605653	chr1:224225721-224225722	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance

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
Cancer	17060936	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224223400-224225400	Enhancers	K562	blood
2	chr1:224225400-224228800	Weak transcription	K562	blood
3	chr1:224227200-224227400	Enhancers	Gastric	stomach
4	chr1:224227400-224228800	Weak transcription	Gastric	stomach

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