Variant report

Variant	nsv945357
Chromosome Location	chr1:228821805-228824528
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr1:228823129-228823328	GM12878	blood:	n/a	n/a
2	BATF	chr1:228823025-228823387	GM12878	blood:	n/a	n/a
3	CEBPB	chr1:228823455-228823652	K562	blood:	n/a	n/a
4	CEBPB	chr1:228823299-228823681	K562	blood:	n/a	n/a
5	EBF1	chr1:228823120-228823337	GM12878	blood:	n/a	n/a
6	GATA2	chr1:228823037-228823570	K562	blood:	n/a	n/a
7	HEY1	chr1:228823055-228823257	HepG2	liver:	n/a	n/a
8	HEY1	chr1:228823030-228823478	K562	blood:	n/a	n/a
9	HEY1	chr1:228823312-228823492	HepG2	liver:	n/a	n/a
10	IRF4	chr1:228823203-228823499	GM12878	blood:	n/a	n/a
11	IRF4	chr1:228823027-228823422	GM12878	blood:	n/a	n/a
12	MYC	chr1:228822945-228822994	H1-hESC	embryonic stem cell:	n/a	n/a
13	PAX5	chr1:228823126-228823436	GM12878	blood:	n/a	n/a
14	POLR2A	chr1:228823184-228823256	A549	lung:	n/a	n/a
15	POLR2A	chr1:228822948-228823601	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr1:228823011-228823521	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr1:228822988-228823485	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr1:228823174-228823316	A549	lung:	n/a	n/a
19	POLR2A	chr1:228823034-228823479	GM12878	blood:	n/a	n/a
20	POLR2A	chr1:228823139-228823352	U87	brain:	n/a	n/a
21	POLR2A	chr1:228822960-228823513	GM12878	blood:	n/a	n/a
22	POLR2A	chr1:228823106-228823361	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr1:228823112-228823353	A549	lung:	n/a	n/a
24	POLR2A	chr1:228823046-228823407	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr1:228823049-228823366	H1-hESC	embryonic stem cell:	n/a	n/a
26	POU2F2	chr1:228823091-228823379	GM12878	blood:	n/a	n/a
27	RCOR1	chr1:228823581-228823614	K562	blood:	n/a	n/a
28	SP1	chr1:228823112-228823399	GM12878	blood:	n/a	n/a
29	SPI1	chr1:228823022-228823287	GM12878	blood:	n/a	n/a
30	STAT3	chr1:228821479-228821828	MCF10A-Er-Src	breast:	n/a	n/a
31	USF1	chr1:228823345-228823618	K562	blood:	n/a	n/a
32	ZBTB33	chr1:228823110-228823386	GM12878	blood:	n/a	n/a
33	ZBTB33	chr1:228822968-228823619	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:228824129..228826926-chr1:228870014..228872584,2	MCF-7	breast:

No data

Variant related genes	Relation type
FTH1P2	TF binding region
ENSG00000116574	chromatin interactions

Extended variants
information (count: 87 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564565217	chr1:228821816-228821817	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs182821889	chr1:228821850-228821851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543934435	chr1:228821858-228821859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114749106	chr1:228821907-228821908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568346525	chr1:228821925-228821926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563741807	chr1:228822020-228822021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528093878	chr1:228822283-228822284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs17352535	chr1:228822284-228822285	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs114214747	chr1:228822308-228822309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375805898	chr1:228822311-228822312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369273430	chr1:228822348-228822349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536796092	chr1:228822354-228822355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552575805	chr1:228822367-228822368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs17437060	chr1:228822374-228822375	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs113194518	chr1:228822405-228822406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111891804	chr1:228822406-228822407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539572336	chr1:228822427-228822428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138516405	chr1:228822440-228822441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573140432	chr1:228822466-228822467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542128050	chr1:228822490-228822491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77359426	chr1:228822505-228822506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6679936	chr1:228822527-228822528	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs575591265	chr1:228822548-228822549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548071915	chr1:228822549-228822550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557912076	chr1:228822573-228822574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544389661	chr1:228822612-228822613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566004620	chr1:228822678-228822679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576174867	chr1:228822707-228822708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374884251	chr1:228822734-228822735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188972505	chr1:228822777-228822778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540394581	chr1:228822803-228822804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560299831	chr1:228822860-228822861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529573209	chr1:228822865-228822866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6665140	chr1:228822928-228822929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs567761680	chr1:228822937-228822938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556660024	chr1:228822982-228822983	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs376163049	chr1:228823005-228823006	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs72750023	chr1:228823009-228823010	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs72750024	chr1:228823016-228823017	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs182908427	chr1:228823056-228823057	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs552963260	chr1:228823066-228823067	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs539270079	chr1:228823084-228823085	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs187249401	chr1:228823092-228823093	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs191764975	chr1:228823118-228823119	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs566649077	chr1:228823251-228823252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184883004	chr1:228823260-228823261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552532378	chr1:228823297-228823298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555661137	chr1:228823298-228823299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572749322	chr1:228823309-228823310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575553417	chr1:228823310-228823311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
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
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228821000-228823800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:228821000-228823800	Weak transcription	Fetal Lung	lung
3	chr1:228821000-228824000	Weak transcription	Right Atrium	heart
4	chr1:228821200-228823800	Weak transcription	Placenta	Placenta
5	chr1:228822000-228831000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:228822600-228828000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:228823600-228824000	Enhancers	Fetal Brain Male	brain
8	chr1:228823800-228824400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:228823800-228824400	Enhancers	Placenta	Placenta
10	chr1:228823800-228824600	Enhancers	Fetal Lung	lung
11	chr1:228824000-228824400	Enhancers	Right Atrium	heart

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