Variant report

Variant	nsv945338
Chromosome Location	chr1:227712483-227722545
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:51)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:51 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:227714227-227714537	K562	blood:	n/a	n/a
2	ATF3	chr1:227714272-227714527	K562	blood:	n/a	n/a
3	BHLHE40	chr1:227720180-227720273	K562	blood:	n/a	n/a
4	CBX3	chr1:227719754-227720329	K562	blood:	n/a	n/a
5	CCNT2	chr1:227714263-227714522	K562	blood:	n/a	n/a
6	CCNT2	chr1:227720070-227720270	K562	blood:	n/a	n/a
7	CEBPB	chr1:227714275-227714539	K562	blood:	n/a	n/a
8	CEBPB	chr1:227714266-227714448	K562	blood:	n/a	n/a
9	CEBPB	chr1:227714425-227714499	HepG2	liver:	n/a	n/a
10	CEBPB	chr1:227714218-227714599	K562	blood:	n/a	n/a
11	CEBPB	chr1:227721017-227721152	K562	blood:	n/a	chr1:227721086-227721097 chr1:227721086-227721099 chr1:227721086-227721099
12	CTCF	chr1:227719780-227719930	GM12878	blood:	n/a	n/a
13	CTCF	chr1:227719769-227720010	K562	blood:	n/a	n/a
14	CTCF	chr1:227719780-227719930	K562	blood:	n/a	n/a
15	CTCF	chr1:227719809-227719937	K562	blood:	n/a	n/a
16	CTCF	chr1:227719840-227719990	HEK293	kidney:	n/a	n/a
17	CTCF	chr1:227719786-227720040	K562	blood:	n/a	n/a
18	CTCF	chr1:227719820-227719970	HEK293	kidney:	n/a	n/a
19	EGR1	chr1:227720095-227720352	K562	blood:	n/a	n/a
20	EGR1	chr1:227720076-227720370	K562	blood:	n/a	n/a
21	EP300	chr1:227714269-227714595	K562	blood:	n/a	n/a
22	EP300	chr1:227719962-227720342	K562	blood:	n/a	n/a
23	FOS	chr1:227720038-227720219	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr1:227720098-227720168	MCF10A-Er-Src	breast:	n/a	n/a
25	GATA1	chr1:227714198-227714718	K562	blood:	n/a	n/a
26	HEY1	chr1:227720014-227720371	K562	blood:	n/a	n/a
27	JUN	chr1:227720078-227720267	K562	blood:	n/a	n/a
28	JUN	chr1:227719664-227721012	K562	blood:	n/a	n/a
29	JUN	chr1:227713904-227714660	K562	blood:	n/a	n/a
30	JUND	chr1:227714229-227714558	K562	blood:	n/a	n/a
31	JUND	chr1:227719927-227720322	K562	blood:	n/a	n/a
32	MAFF	chr1:227720000-227720318	K562	blood:	n/a	n/a
33	MAFK	chr1:227720008-227720308	K562	blood:	n/a	n/a
34	MAX	chr1:227720252-227720269	Hela-S3	cervix:	n/a	n/a
35	MAZ	chr1:227719933-227720303	K562	blood:	n/a	n/a
36	MYC	chr1:227720237-227720336	K562	blood:	n/a	n/a
37	POLR2A	chr1:227714811-227714858	ProgFib	skin:	n/a	n/a
38	POLR2A	chr1:227716521-227717454	K562	blood:	n/a	n/a
39	POLR2A	chr1:227720057-227720357	K562	blood:	n/a	n/a
40	POLR2A	chr1:227720381-227720388	K562	blood:	n/a	n/a
41	POLR2A	chr1:227722279-227722303	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr1:227718205-227718542	K562	blood:	n/a	n/a
43	RCOR1	chr1:227714258-227714547	K562	blood:	n/a	n/a
44	RCOR1	chr1:227720042-227720292	K562	blood:	n/a	n/a
45	SETDB1	chr1:227718156-227718502	U2OS	brain:	n/a	n/a
46	SETDB1	chr1:227719902-227720102	U2OS	brain:	n/a	n/a
47	SPI1	chr1:227720060-227720261	K562	blood:	n/a	n/a
48	TEAD4	chr1:227714150-227714533	K562	blood:	n/a	n/a
49	YY1	chr1:227720017-227720271	K562	blood:	n/a	n/a
50	YY1	chr1:227719887-227720347	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:227704941..227707226-chr1:227710980..227713652,2	K562	blood:
2	chr1:227721387..227723792-chr1:227750003..227751668,2	MCF-7	breast:
3	chr1:227699513..227702199-chr1:227720616..227723558,2	K562	blood:
4	chr1:227718832..227721414-chr1:227723108..227725782,2	K562	blood:
5	chr1:227721537..227724263-chr1:227727527..227730135,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000227711	TF binding region
ENSG00000181450	chromatin interactions

Extended variants
information (count: 310 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:310 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371315105	chr1:227714231-227714232	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs558230121	chr1:227714242-227714243	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs576559405	chr1:227714247-227714248	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs2814084	chr1:227714296-227714297	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs530623130	chr1:227714326-227714327	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs79861261	chr1:227714341-227714342	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs184924582	chr1:227714403-227714404	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs560995182	chr1:227714411-227714412	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs149279116	chr1:227714413-227714414	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs190910931	chr1:227714431-227714432	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs199768121	chr1:227714440-227714441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs10916157	chr1:227714477-227714478	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs550444329	chr1:227714495-227714496	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs565355235	chr1:227714510-227714511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs532686746	chr1:227714523-227714524	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs183451983	chr1:227714549-227714550	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs566033977	chr1:227714563-227714564	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs144507095	chr1:227714577-227714578	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs139163321	chr1:227714584-227714585	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs187737259	chr1:227714585-227714586	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs569983689	chr1:227714623-227714624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs570253565	chr1:227714663-227714664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs199722726	chr1:227714701-227714702	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs1845760	chr1:227714702-227714703	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
25	rs112586428	chr1:227714705-227714706	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs552651064	chr1:227714721-227714722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs574308349	chr1:227714723-227714724	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs371631685	chr1:227714741-227714742	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs192007785	chr1:227714804-227714805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs183328238	chr1:227714842-227714843	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs576701171	chr1:227714886-227714887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs544014574	chr1:227714917-227714918	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs188340741	chr1:227714919-227714920	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs532756540	chr1:227714939-227714940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs547870896	chr1:227714954-227714955	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs559838311	chr1:227715029-227715030	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs530041278	chr1:227715032-227715033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs376108967	chr1:227715033-227715034	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs548594606	chr1:227715034-227715035	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs554965781	chr1:227715063-227715064	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs569837811	chr1:227715101-227715102	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs536915649	chr1:227715125-227715126	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs552074037	chr1:227715140-227715141	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs570263590	chr1:227715166-227715167	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs534515684	chr1:227715232-227715233	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs116580616	chr1:227715323-227715324	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs192575116	chr1:227715367-227715368	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs111581008	chr1:227715445-227715446	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs112168124	chr1:227715478-227715479	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs145923853	chr1:227715494-227715495	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	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
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227714200-227721800	ZNF genes & repeats	Liver	Liver
2	chr1:227715400-227719600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:227715600-227721600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:227718000-227718400	ZNF genes & repeats	Fetal Kidney	kidney
5	chr1:227718000-227721000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr1:227718600-227723200	Weak transcription	Psoas Muscle	Psoas
7	chr1:227719400-227720000	ZNF genes & repeats	A549	lung
8	chr1:227719400-227721000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:227719600-227720400	ZNF genes & repeats	Esophagus	oesophagus
10	chr1:227719600-227720400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
11	chr1:227719600-227720600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:227719600-227720800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:227719600-227720800	ZNF genes & repeats	Pancreas	Pancrea
14	chr1:227719800-227720600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:227719800-227720600	Enhancers	Hela-S3	cervix
16	chr1:227719800-227720800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:227719800-227720800	Enhancers	K562	blood
18	chr1:227719800-227721200	ZNF genes & repeats	Aorta	Aorta
19	chr1:227720000-227720800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:227720000-227722000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:227720200-227720400	ZNF genes & repeats	Brain Anterior Caudate	brain
22	chr1:227720200-227720800	ZNF genes & repeats	Left Ventricle	heart
23	chr1:227720200-227721000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
24	chr1:227720200-227721000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
25	chr1:227720200-227721200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:227720600-227721200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:227720800-227725800	Weak transcription	Pancreas	Pancrea
28	chr1:227720800-227729200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:227720800-227729200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:227721200-227725800	Weak transcription	Aorta	Aorta

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