Variant report

Variant	nsv878785
Chromosome Location	chr4:28780231-28872833
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:189)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:189 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr4:28823833-28823988	K562	blood:	n/a	n/a
2	BHLHE40	chr4:28789517-28789783	GM12878	blood:	n/a	n/a
3	CEBPB	chr4:28872677-28872783	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr4:28828127-28828387	A549	lung:	n/a	chr4:28828324-28828337 chr4:28828253-28828264
5	CEBPB	chr4:28851851-28851992	HepG2	liver:	n/a	chr4:28851864-28851875
6	CEBPB	chr4:28825684-28826029	HepG2	liver:	n/a	chr4:28825857-28825866 chr4:28825855-28825868 chr4:28825855-28825868 chr4:28825855-28825866 chr4:28825856-28825867
7	CEBPB	chr4:28825761-28825987	A549	lung:	n/a	chr4:28825857-28825866 chr4:28825855-28825868 chr4:28825855-28825868 chr4:28825855-28825866 chr4:28825856-28825867
8	CEBPB	chr4:28828136-28828421	IMR90	lung:	n/a	chr4:28828324-28828337 chr4:28828253-28828264
9	CEBPB	chr4:28825839-28825873	K562	blood:	n/a	chr4:28825857-28825866 chr4:28825855-28825868 chr4:28825855-28825868 chr4:28825855-28825866 chr4:28825856-28825867
10	CEBPB	chr4:28828214-28828396	K562	blood:	n/a	chr4:28828324-28828337 chr4:28828253-28828264
11	CEBPB	chr4:28825718-28826010	IMR90	lung:	n/a	chr4:28825857-28825866 chr4:28825855-28825868 chr4:28825855-28825868 chr4:28825855-28825866 chr4:28825856-28825867
12	CEBPB	chr4:28828128-28828442	HepG2	liver:	n/a	chr4:28828324-28828337 chr4:28828253-28828264
13	CTCF	chr4:28790742-28791065	GM12878	blood:	n/a	n/a
14	CTCF	chr4:28859090-28859160	ProgFib	skin:	n/a	n/a
15	CTCF	chr4:28790800-28791015	Gliobla	brain:	n/a	n/a
16	CTCF	chr4:28815289-28815366	ProgFib	skin:	n/a	n/a
17	CTCF	chr4:28790901-28790904	LNCaP	prostate:	n/a	n/a
18	CTCF	chr4:28790884-28790970	K562	blood:	n/a	n/a
19	CTCF	chr4:28790887-28790963	MCF-7	breast:	n/a	n/a
20	CTCF	chr4:28790780-28790930	SK-N-SH_RA	brain:	n/a	n/a
21	CTCF	chr4:28790879-28790884	LNCaP	prostate:	n/a	n/a
22	CTCF	chr4:28790817-28790961	Fibrobl	skin:	n/a	n/a
23	CTCF	chr4:28815160-28815310	BE2_C	brain:	n/a	n/a
24	CTCF	chr4:28790839-28790998	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr4:28815160-28815310	WERI-Rb-1	eye:	n/a	n/a
26	CTCF	chr4:28815270-28815358	MCF-7	breast:	n/a	n/a
27	CTCF	chr4:28790800-28790950	AG09309	skin:	n/a	n/a
28	CTCF	chr4:28815220-28815389	MCF-7	breast:	n/a	n/a
29	CTCF	chr4:28819582-28819601	GM10266	blood:	n/a	n/a
30	CTCF	chr4:28790826-28791039	K562	blood:	n/a	n/a
31	CTCF	chr4:28843880-28844030	MCF-7	breast:	n/a	n/a
32	CTCF	chr4:28790836-28790838	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr4:28815220-28815370	WERI-Rb-1	eye:	n/a	n/a
34	CTCF	chr4:28790900-28791050	NB4	blood:	n/a	n/a
35	CTCF	chr4:28815260-28815410	MCF-7	breast:	n/a	n/a
36	CTCF	chr4:28790860-28790940	GM12878	blood:	n/a	n/a
37	CTCF	chr4:28790818-28790928	ProgFib	skin:	n/a	n/a
38	CTCF	chr4:28790760-28790910	A549	lung:	n/a	n/a
39	CTCF	chr4:28790820-28790970	AG09309	skin:	n/a	n/a
40	CTCF	chr4:28815240-28815390	MCF-7	breast:	n/a	n/a
41	CTCF	chr4:28841783-28841844	Spleen_OC	spleen:	n/a	n/a
42	CTCF	chr4:28856539-28856579	GM20000	blood:	n/a	n/a
43	CTCF	chr4:28790914-28790956	LNCaP	prostate:	n/a	n/a
44	CTCF	chr4:28790767-28791040	T-47D	breast:	n/a	n/a
45	CTCF	chr4:28790835-28790945	SK-N-SH_RA	brain:	n/a	n/a
46	CTCF	chr4:28790814-28791029	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr4:28790864-28790938	LNCaP	prostate:	n/a	n/a
48	CTCF	chr4:28815280-28815430	AG09309	skin:	n/a	n/a
49	E2F4	chr4:28838724-28838884	MCF10A-Er-Src	breast:	n/a	n/a
50	E2F4	chr4:28823104-28823292	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:28829667-28829717	Caco-2	colon:	n/a
2	chr4:28829667-28829717	HEK293	kidney:	embryo
3	chr4:28829667-28829717	NHDF-neo	bronchial:	n/a
4	chr4:28829667-28829717	ProgFib	skin:	n/a
5	chr4:28829667-28829717	H1-hESC	embryonic stem cell:	embryo
6	chr4:28829667-28829717	HepG2	liver:	n/a
7	chr4:28829667-28829717	U87	brain:	n/a
8	chr4:28829667-28829717	HPAEpiC	pulmonary alveolar:	n/a
9	chr4:28829667-28829717	AG04449	skin:	fetal
10	chr4:28829667-28829717	NB4	blood:	n/a
11	chr4:28829667-28829717	HNPCEpiC	eye:	n/a
12	chr4:28829667-28829717	MCF10A-Er-Src	breast:	n/a
13	chr4:28829667-28829717	AG04450	lung:	fetal
14	chr4:28829667-28829717	SAEC	small airway:	n/a
15	chr4:28829667-28829717	CMK	blood:	n/a
16	chr4:28829667-28829717	SK-N-MC	brain:	n/a
17	chr4:28829667-28829717	AG09319	gingival:	n/a
18	chr4:28829667-28829717	A549	lung:	n/a
19	chr4:28829667-28829717	GM19239	blood:	n/a
20	chr4:28829667-28829717	MCF-7	breast:	n/a
21	chr4:28829667-28829717	NHBE	bronchial:	n/a
22	chr4:28829667-28829717	RPTEC	kidney:	n/a
23	chr4:28829667-28829717	BJ	skin:	n/a
24	chr4:28829667-28829717	HRPEpiC	eye:	n/a
25	chr4:28829667-28829717	ECC-1	luminal epithelium:	n/a
26	chr4:28829667-28829717	Jurkat	blood:	n/a
27	chr4:28829667-28829717	HCF	heart:	n/a
28	chr4:28829667-28829717	SK-N-SH_RA	brain:	n/a
29	chr4:28829667-28829717	HRE	kidney:	n/a
30	chr4:28829667-28829717	LNCaP	prostate:	n/a
31	chr4:28829667-28829717	GM12892	blood:	n/a
32	chr4:28829667-28829717	BE2_C	brain:	n/a
33	chr4:28829667-28829717	AoSMC	blood vessel:	n/a
34	chr4:28829667-28829717	HRCEpiC	kidney:	n/a
35	chr4:28829667-28829717	HCT-116	colon:	n/a
36	chr4:28829667-28829717	AG09309	skin:	n/a
37	chr4:28829667-28829717	HCM	heart:	n/a
38	chr4:28829667-28829717	NT2-D1	testis:	n/a
39	chr4:28829667-28829717	ovcar-3	ovarian:	n/a
40	chr4:28829667-28829717	Hela-S3	cervix:	n/a
41	chr4:28829667-28829717	Hepatocyte	liver:	n/a
42	chr4:28829667-28829717	HAEpiC	amniotic membrane:	n/a
43	chr4:28829667-28829717	K562	blood:	n/a
44	chr4:28829667-28829717	PFSK-1	brain:	n/a
45	chr4:28829667-28829717	PANC-1	pancreas:	n/a
46	chr4:28829667-28829717	AG10803	skin:	n/a
47	chr4:28829667-28829717	T-47D	breast:	n/a
48	chr4:28829667-28829717	GM12878	blood:	n/a
49	chr4:28829667-28829717	HIPEpiC	eye:	n/a
50	chr4:28829667-28829717	IMR90	lung:	fetal

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:28787492..28790119-chr4:28809128..28811907,2	K562	blood:
2	chr4:28778617..28781313-chr4:28801513..28803129,2	K562	blood:
3	chr4:28787492..28790119-chr4:28809128..28811907,2	K562	blood:
4	chr4:28823073..28825418-chr4:28842573..28844204,2	MCF-7	breast:
5	chr4:28823073..28825418-chr4:28842573..28844204,2	MCF-7	breast:
6	chr4:28797752..28800390-chr4:28800946..28802986,2	K562	blood:
7	chr4:28805670..28808284-chr4:28808958..28811325,2	K562	blood:
8	chr4:28805670..28808284-chr4:28808958..28811325,2	K562	blood:
9	chr4:28797752..28800390-chr4:28800946..28802986,2	K562	blood:
10	chr4:28778617..28781313-chr4:28801513..28803129,2	K562	blood:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4275	chr4:28821214-28821230	MIMAT0016905

No data

Variant related genes	Relation type
MESTP3	TF binding region
MESTP3	CpG island

Extended variants
information (count: 688 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:688 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575801944	chr4:28794436-28794437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544828175	chr4:28794482-28794483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577728225	chr4:28794604-28794605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561455775	chr4:28794661-28794662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs137961506	chr4:28794666-28794667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184530118	chr4:28794667-28794668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559925438	chr4:28794685-28794686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532146620	chr4:28794738-28794739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551858271	chr4:28794776-28794777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79084807	chr4:28794777-28794778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs79168977	chr4:28794819-28794820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548030085	chr4:28794835-28794836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75067734	chr4:28794841-28794842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574028871	chr4:28794848-28794849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536384052	chr4:28794869-28794870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9991479	chr4:28794872-28794873	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs78815534	chr4:28794946-28794947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539028233	chr4:28794947-28794948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558640028	chr4:28794956-28794957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575932403	chr4:28795024-28795025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544917039	chr4:28795039-28795040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555228679	chr4:28795103-28795104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575070639	chr4:28795114-28795115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188108468	chr4:28795121-28795122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73804753	chr4:28795124-28795125	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs532062135	chr4:28795136-28795137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs67741650	chr4:28795187-28795188	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs568647371	chr4:28795188-28795189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs9991797	chr4:28795213-28795214	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs79753954	chr4:28795281-28795282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567980470	chr4:28795303-28795304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs6813605	chr4:28795323-28795324	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs192866788	chr4:28795367-28795368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566967204	chr4:28795374-28795375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538746355	chr4:28795395-28795396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574738964	chr4:28795401-28795402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543572247	chr4:28795420-28795421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369734363	chr4:28795423-28795424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558955832	chr4:28795599-28795600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138773852	chr4:28795618-28795619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184627451	chr4:28795665-28795666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373216977	chr4:28795691-28795692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189509404	chr4:28795733-28795734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs80165200	chr4:28795735-28795736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540830628	chr4:28795749-28795750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2131464	chr4:28795758-28795759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546026974	chr4:28795773-28795774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112731237	chr4:28795788-28795789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545561221	chr4:28795826-28795827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73219429	chr4:28795857-28795858	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:28794400-28795400	Enhancers	Fetal Heart	heart
2	chr4:28795400-28799200	Weak transcription	Fetal Heart	heart
3	chr4:28795800-28796000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:28796000-28797000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:28797000-28797200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:28797200-28798600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:28798200-28799600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr4:28798800-28799000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:28799200-28802000	Enhancers	Fetal Heart	heart
10	chr4:28802000-28802600	Active TSS	Fetal Heart	heart
11	chr4:28803200-28803600	Enhancers	H9 Cell Line	embryonic stem cell
12	chr4:28803600-28804000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr4:28808600-28809000	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr4:28810800-28811600	Enhancers	Brain Hippocampus Middle	brain
15	chr4:28821000-28821400	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr4:28827200-28827800	Enhancers	Fetal Heart	heart
17	chr4:28833400-28835000	Enhancers	Fetal Heart	heart
18	chr4:28833600-28833800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:28834200-28835000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:28838000-28838400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr4:28842400-28843200	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr4:28843200-28843600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr4:28843600-28844000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:28843600-28844000	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr4:28849400-28849600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:28859000-28859200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
27	chr4:28859000-28859200	ZNF genes & repeats	Pancreas	Pancrea
28	chr4:28870600-28871000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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