Variant report

Variant	nsv1007227
Chromosome Location	chr4:20547578-20563930
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr4:20548733-20548793	MCF10A-Er-Src	breast:	n/a	n/a
2	EP300	chr4:20561888-20562289	SK-N-SH_RA	brain:	n/a	n/a
3	EP300	chr4:20561903-20562225	SK-N-SH_RA	brain:	n/a	n/a
4	FOS	chr4:20555924-20556122	MCF10A-Er-Src	breast:	n/a	n/a
5	GATA3	chr4:20549615-20549643	SH-SY5Y	brain:	n/a	n/a
6	MAFF	chr4:20556056-20556344	HepG2	liver:	n/a	chr4:20556228-20556246
7	MAFK	chr4:20557773-20557955	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAFK	chr4:20556077-20556400	HepG2	liver:	n/a	chr4:20556229-20556245 chr4:20556229-20556244
9	MAFK	chr4:20556104-20556382	IMR90	lung:	n/a	chr4:20556229-20556245 chr4:20556229-20556244
10	MAFK	chr4:20556071-20556369	HepG2	liver:	n/a	chr4:20556229-20556245 chr4:20556229-20556244
11	MYC	chr4:20555893-20556053	MCF10A-Er-Src	breast:	n/a	n/a
12	MYC	chr4:20555816-20556089	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr4:20560866-20560991	GM12878	blood:	n/a	n/a
14	POLR2A	chr4:20562018-20562068	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr4:20555888-20555992	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr4:20560202-20560267	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr4:20561333-20561503	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr4:20553841-20553975	ProgFib	skin:	n/a	n/a
19	POLR2A	chr4:20555840-20556040	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr4:20563227-20563287	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr4:20557692-20557719	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT3	chr4:20555269-20555280	MCF10A-Er-Src	breast:	n/a	n/a
23	STAT3	chr4:20554588-20554605	MCF10A-Er-Src	breast:	n/a	n/a
24	STAT3	chr4:20550505-20550658	MCF10A-Er-Src	breast:	n/a	n/a
25	USF1	chr4:20563533-20563737	H1-hESC	embryonic stem cell:	n/a	n/a
26	ZNF143	chr4:20555870-20555994	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:20558003-20558053	HIPEpiC	eye:	n/a
2	chr4:20558003-20558053	HCM	heart:	n/a
3	chr4:20558003-20558053	MCF10A-Er-Src	breast:	n/a
4	chr4:20558003-20558053	AG04449	skin:	fetal
5	chr4:20558003-20558053	HRPEpiC	eye:	n/a
6	chr4:20558003-20558053	GM12891	blood:	n/a
7	chr4:20558003-20558053	LNCaP	prostate:	n/a
8	chr4:20558003-20558053	NHDF-neo	bronchial:	n/a
9	chr4:20558003-20558053	AG10803	skin:	n/a
10	chr4:20558003-20558053	MCF-7	breast:	n/a
11	chr4:20558003-20558053	BE2_C	brain:	n/a
12	chr4:20558003-20558053	PrEC	prostate:	n/a
13	chr4:20558003-20558053	PFSK-1	brain:	n/a
14	chr4:20558003-20558053	RPTEC	kidney:	n/a
15	chr4:20558003-20558053	HCT-116	colon:	n/a
16	chr4:20558003-20558053	HRE	kidney:	n/a
17	chr4:20558003-20558053	Hela-S3	cervix:	n/a
18	chr4:20558003-20558053	H1-hESC	embryonic stem cell:	embryo
19	chr4:20558003-20558053	GM06990	blood:	n/a
20	chr4:20558003-20558053	SK-N-MC	brain:	n/a
21	chr4:20558003-20558053	AG09309	skin:	n/a
22	chr4:20558003-20558053	Caco-2	colon:	n/a
23	chr4:20558003-20558053	AoSMC	blood vessel:	n/a
24	chr4:20558003-20558053	HCPEpiC	choroid plexus:	n/a
25	chr4:20558003-20558053	U87	brain:	n/a
26	chr4:20558003-20558053	HPAEpiC	pulmonary alveolar:	n/a
27	chr4:20558003-20558053	Hepatocyte	liver:	n/a
28	chr4:20558003-20558053	SK-N-SH	brain:	n/a
29	chr4:20558003-20558053	NH-A	brain:	n/a
30	chr4:20558003-20558053	IMR90	lung:	fetal
31	chr4:20558003-20558053	HRCEpiC	kidney:	n/a
32	chr4:20558003-20558053	HL-60	blood:	n/a
33	chr4:20558003-20558053	SAEC	small airway:	n/a
34	chr4:20558003-20558053	BJ	skin:	n/a
35	chr4:20558003-20558053	HNPCEpiC	eye:	n/a
36	chr4:20558003-20558053	NT2-D1	testis:	n/a
37	chr4:20558003-20558053	CMK	blood:	n/a
38	chr4:20558003-20558053	HEK293	kidney:	embryo
39	chr4:20558003-20558053	HEEpiC	esophagus:	n/a
40	chr4:20558003-20558053	HepG2	liver:	n/a
41	chr4:20558003-20558053	K562	blood:	n/a
42	chr4:20558003-20558053	ECC-1	luminal epithelium:	n/a
43	chr4:20558003-20558053	HMEC	breast:	n/a
44	chr4:20558003-20558053	SKMC	muscle:	n/a
45	chr4:20558003-20558053	GM12892	blood:	n/a
46	chr4:20558003-20558053	SK-N-SH_RA	brain:	n/a
47	chr4:20558003-20558053	HUVEC	blood vessel:	n/a
48	chr4:20558003-20558053	NHBE	bronchial:	n/a
49	chr4:20558003-20558053	T-47D	breast:	n/a
50	chr4:20558003-20558053	PANC-1	pancreas:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr4:20423426..20426001-chr4:20546337..20549229,2	MCF-7	breast:
2	chr4:20555229..20557515-chr4:20560187..20562423,2	K562	blood:
3	chr4:20555967..20557515-chr4:20560187..20562969,2	K562	blood:
4	chr4:20555967..20557515-chr4:20560187..20562969,2	K562	blood:

No data

Variant related genes	Relation type
SLIT2	TF binding region
SLIT2	CpG island
ENSG00000145147	chromatin interactions

Extended variants
information (count: 647 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:647 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12501870	chr4:20547578-20547579	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs368960178	chr4:20547596-20547597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549941563	chr4:20547616-20547617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373582486	chr4:20547628-20547629	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182241274	chr4:20547641-20547642	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201370366	chr4:20547671-20547672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140806587	chr4:20547672-20547673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566046764	chr4:20547692-20547693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150077815	chr4:20547709-20547710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367994534	chr4:20547722-20547723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200625405	chr4:20547727-20547728	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371988827	chr4:20547731-20547732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551502876	chr4:20547750-20547751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570740929	chr4:20547777-20547778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538168193	chr4:20547791-20547792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556387669	chr4:20547798-20547799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568300478	chr4:20547817-20547818	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2292439	chr4:20547838-20547839	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs553782422	chr4:20547893-20547894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572067162	chr4:20547902-20547903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562866182	chr4:20547932-20547933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115635742	chr4:20547955-20547956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186838552	chr4:20547965-20547966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576713785	chr4:20547972-20547973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375699257	chr4:20547974-20547975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113030339	chr4:20548028-20548029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545387540	chr4:20548036-20548037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543745528	chr4:20548079-20548080	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13132881	chr4:20548086-20548087	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs529398471	chr4:20548121-20548122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541284888	chr4:20548130-20548131	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559761178	chr4:20548161-20548162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533296064	chr4:20548198-20548199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551733610	chr4:20548222-20548223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139996063	chr4:20548233-20548234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190093789	chr4:20548251-20548252	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs367713684	chr4:20548258-20548259	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550061283	chr4:20548470-20548471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547553676	chr4:20548535-20548536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568367462	chr4:20548582-20548583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182683253	chr4:20548586-20548587	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528422999	chr4:20548605-20548606	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565746019	chr4:20548626-20548627	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539205452	chr4:20548697-20548698	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557320245	chr4:20548835-20548836	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575590858	chr4:20548847-20548848	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373707550	chr4:20548879-20548880	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368762014	chr4:20548966-20548967	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11936468	chr4:20548976-20548977	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs574264894	chr4:20548982-20548983	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	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
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Breast cancer	22737080	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20492000-20599800	Weak transcription	Aorta	Aorta
2	chr4:20511800-20576200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:20519400-20571000	Weak transcription	Adipose Nuclei	Adipose
4	chr4:20524200-20555200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr4:20525200-20555400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr4:20530400-20555400	Weak transcription	NHEK	skin
7	chr4:20533000-20578000	Weak transcription	NHLF	lung
8	chr4:20533800-20576200	Weak transcription	Left Ventricle	heart
9	chr4:20534600-20552800	Weak transcription	Brain Anterior Caudate	brain
10	chr4:20534800-20576400	Weak transcription	Fetal Brain Male	brain
11	chr4:20535800-20593600	Weak transcription	Fetal Kidney	kidney
12	chr4:20536000-20548600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:20536000-20552400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:20536000-20554800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr4:20536000-20555200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr4:20536600-20572200	Weak transcription	Placenta	Placenta
17	chr4:20536800-20618600	Weak transcription	Spleen	Spleen
18	chr4:20537800-20552600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:20537800-20552600	Weak transcription	Colon Smooth Muscle	Colon
20	chr4:20537800-20552800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr4:20538000-20553200	Weak transcription	Fetal Stomach	stomach
22	chr4:20539000-20552800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:20541200-20552800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr4:20543600-20549600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:20543600-20549800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr4:20545000-20549800	Weak transcription	Osteobl	bone
27	chr4:20545000-20552600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:20546800-20547800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:20546800-20548000	Strong transcription	NHDF-Ad	bronchial
30	chr4:20546800-20550000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:20546800-20550600	Strong transcription	Fetal Lung	lung
32	chr4:20547000-20576000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr4:20547400-20550800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:20547800-20549800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:20548000-20550000	Weak transcription	NHDF-Ad	bronchial
36	chr4:20548600-20549200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:20548800-20549200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:20549200-20568800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:20549600-20550600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr4:20549800-20550600	Strong transcription	Placenta Amnion	Placenta Amnion
41	chr4:20549800-20550600	Strong transcription	Osteobl	bone
42	chr4:20549800-20550800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr4:20550000-20550400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:20550000-20561400	Strong transcription	NHDF-Ad	bronchial
45	chr4:20550400-20561000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:20550600-20552000	Weak transcription	Fetal Lung	lung
47	chr4:20550600-20552400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr4:20550600-20552400	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr4:20550600-20552400	Weak transcription	Osteobl	bone
50	chr4:20550800-20552600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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