Variant report

Variant	esv3692811
Chromosome Location	chr4:20552510-20565861
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr4:20561903-20562225	SK-N-SH_RA	brain:	n/a	n/a
2	EP300	chr4:20561888-20562289	SK-N-SH_RA	brain:	n/a	n/a
3	FOS	chr4:20555924-20556122	MCF10A-Er-Src	breast:	n/a	n/a
4	MAFF	chr4:20556056-20556344	HepG2	liver:	n/a	chr4:20556228-20556246
5	MAFK	chr4:20557773-20557955	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAFK	chr4:20556071-20556369	HepG2	liver:	n/a	chr4:20556229-20556245 chr4:20556229-20556244
7	MAFK	chr4:20556104-20556382	IMR90	lung:	n/a	chr4:20556229-20556245 chr4:20556229-20556244
8	MAFK	chr4:20556077-20556400	HepG2	liver:	n/a	chr4:20556229-20556245 chr4:20556229-20556244
9	MYC	chr4:20555893-20556053	MCF10A-Er-Src	breast:	n/a	n/a
10	MYC	chr4:20555816-20556089	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr4:20563227-20563287	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr4:20560866-20560991	GM12878	blood:	n/a	n/a
13	POLR2A	chr4:20555888-20555992	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr4:20553841-20553975	ProgFib	skin:	n/a	n/a
15	POLR2A	chr4:20557692-20557719	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr4:20561333-20561503	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr4:20560202-20560267	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr4:20562018-20562068	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr4:20555840-20556040	MCF10A-Er-Src	breast:	n/a	n/a
20	STAT3	chr4:20554588-20554605	MCF10A-Er-Src	breast:	n/a	n/a
21	STAT3	chr4:20555269-20555280	MCF10A-Er-Src	breast:	n/a	n/a
22	USF1	chr4:20563533-20563737	H1-hESC	embryonic stem cell:	n/a	n/a
23	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	ECC-1	luminal epithelium:	n/a
2	chr4:20558003-20558053	AG09319	gingival:	n/a
3	chr4:20558003-20558053	Hepatocyte	liver:	n/a
4	chr4:20558003-20558053	HEK293	kidney:	embryo
5	chr4:20558003-20558053	AoSMC	blood vessel:	n/a
6	chr4:20558003-20558053	SAEC	small airway:	n/a
7	chr4:20558003-20558053	HRCEpiC	kidney:	n/a
8	chr4:20558003-20558053	SKMC	muscle:	n/a
9	chr4:20558003-20558053	HMEC	breast:	n/a
10	chr4:20558003-20558053	AG04449	skin:	fetal
11	chr4:20558003-20558053	HNPCEpiC	eye:	n/a
12	chr4:20558003-20558053	T-47D	breast:	n/a
13	chr4:20558003-20558053	HCT-116	colon:	n/a
14	chr4:20558003-20558053	HepG2	liver:	n/a
15	chr4:20558003-20558053	NHBE	bronchial:	n/a
16	chr4:20558003-20558053	Caco-2	colon:	n/a
17	chr4:20558003-20558053	SK-N-SH	brain:	n/a
18	chr4:20558003-20558053	HUVEC	blood vessel:	n/a
19	chr4:20558003-20558053	HCF	heart:	n/a
20	chr4:20558003-20558053	AG04450	lung:	fetal
21	chr4:20558003-20558053	ovcar-3	ovarian:	n/a
22	chr4:20558003-20558053	H1-hESC	embryonic stem cell:	embryo
23	chr4:20558003-20558053	MCF-7	breast:	n/a
24	chr4:20558003-20558053	AG10803	skin:	n/a
25	chr4:20558003-20558053	Hela-S3	cervix:	n/a
26	chr4:20558003-20558053	AG09309	skin:	n/a
27	chr4:20558003-20558053	NT2-D1	testis:	n/a
28	chr4:20558003-20558053	RPTEC	kidney:	n/a
29	chr4:20558003-20558053	HIPEpiC	eye:	n/a
30	chr4:20558003-20558053	NHDF-neo	bronchial:	n/a
31	chr4:20558003-20558053	SK-N-MC	brain:	n/a
32	chr4:20558003-20558053	K562	blood:	n/a
33	chr4:20558003-20558053	HL-60	blood:	n/a
34	chr4:20558003-20558053	PFSK-1	brain:	n/a
35	chr4:20558003-20558053	GM12878	blood:	n/a
36	chr4:20558003-20558053	ProgFib	skin:	n/a
37	chr4:20558003-20558053	U87	brain:	n/a
38	chr4:20558003-20558053	A549	lung:	n/a
39	chr4:20558003-20558053	HAEpiC	amniotic membrane:	n/a
40	chr4:20558003-20558053	BJ	skin:	n/a
41	chr4:20558003-20558053	MCF10A-Er-Src	breast:	n/a
42	chr4:20558003-20558053	HEEpiC	esophagus:	n/a
43	chr4:20558003-20558053	CMK	blood:	n/a
44	chr4:20558003-20558053	LNCaP	prostate:	n/a
45	chr4:20558003-20558053	HRE	kidney:	n/a
46	chr4:20558003-20558053	SK-N-SH_RA	brain:	n/a
47	chr4:20558003-20558053	HCM	heart:	n/a
48	chr4:20558003-20558053	HRPEpiC	eye:	n/a
49	chr4:20558003-20558053	NB4	blood:	n/a
50	chr4:20558003-20558053	HCPEpiC	choroid plexus:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:20555229..20557515-chr4:20560187..20562423,2	K562	blood:
2	chr4:20555967..20557515-chr4:20560187..20562969,2	K562	blood:
3	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: 513 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:513 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17542486	chr4:20552510-20552511	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs201926839	chr4:20552536-20552537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs202125161	chr4:20552544-20552545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142830338	chr4:20552566-20552567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549763336	chr4:20552596-20552597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs55798019	chr4:20552624-20552625	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs535491631	chr4:20552629-20552630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191416406	chr4:20552664-20552665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573069381	chr4:20552680-20552681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533958409	chr4:20552681-20552682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116820943	chr4:20552692-20552693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577007483	chr4:20552729-20552730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544360959	chr4:20552730-20552731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs151060954	chr4:20552733-20552734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113464233	chr4:20552743-20552744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183690181	chr4:20552748-20552749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541485333	chr4:20552753-20552754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560806035	chr4:20552813-20552814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570101649	chr4:20552831-20552832	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12512133	chr4:20552852-20552853	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs4697169	chr4:20552853-20552854	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs564386894	chr4:20552854-20552855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531682863	chr4:20552885-20552886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549823182	chr4:20552920-20552921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79022966	chr4:20552940-20552941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368471522	chr4:20552976-20552977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35352990	chr4:20552996-20552997	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113247443	chr4:20553044-20553045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144778563	chr4:20553116-20553117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547506898	chr4:20553139-20553140	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113546595	chr4:20553179-20553180	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73110515	chr4:20553243-20553244	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs141824158	chr4:20553287-20553288	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs621806	chr4:20553304-20553305	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs75537931	chr4:20553305-20553306	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372476156	chr4:20553324-20553325	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs16869756	chr4:20553357-20553358	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs554793203	chr4:20553369-20553370	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556198109	chr4:20553413-20553414	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574467480	chr4:20553456-20553457	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541796284	chr4:20553496-20553497	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188552422	chr4:20553554-20553555	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574711460	chr4:20553579-20553580	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192480969	chr4:20553592-20553593	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572404212	chr4:20553621-20553622	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs546131489	chr4:20553659-20553660	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs564449957	chr4:20553678-20553679	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs531745033	chr4:20553750-20553751	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs150476462	chr4:20553762-20553763	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs562196439	chr4:20553897-20553898	Weak transcription Enhancers Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	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:105 , 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	chr4:20536000-20554800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr4:20536000-20555200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr4:20536600-20572200	Weak transcription	Placenta	Placenta
15	chr4:20536800-20618600	Weak transcription	Spleen	Spleen
16	chr4:20537800-20552600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:20537800-20552600	Weak transcription	Colon Smooth Muscle	Colon
18	chr4:20537800-20552800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr4:20538000-20553200	Weak transcription	Fetal Stomach	stomach
20	chr4:20539000-20552800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:20541200-20552800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr4:20545000-20552600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:20547000-20576000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr4:20549200-20568800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:20550000-20561400	Strong transcription	NHDF-Ad	bronchial
26	chr4:20550400-20561000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:20550800-20552600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:20550800-20553400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:20552000-20554800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr4:20552000-20557600	Strong transcription	Fetal Lung	lung
31	chr4:20552400-20553000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:20552400-20553400	Strong transcription	Placenta Amnion	Placenta Amnion
33	chr4:20552400-20555400	Strong transcription	Osteobl	bone
34	chr4:20552400-20561000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:20552600-20553600	Strong transcription	Colon Smooth Muscle	Colon
36	chr4:20552600-20553800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:20552600-20556000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr4:20552600-20558600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:20552800-20553400	Strong transcription	Brain Anterior Caudate	brain
40	chr4:20552800-20553800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:20552800-20555600	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr4:20552800-20556000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:20553000-20569200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:20553200-20553600	Weak transcription	Lung	lung
45	chr4:20553200-20554200	Strong transcription	Fetal Stomach	stomach
46	chr4:20553200-20555400	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr4:20553400-20554600	Weak transcription	Brain Anterior Caudate	brain
48	chr4:20553400-20554800	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr4:20553400-20556000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:20553600-20554000	ZNF genes & repeats	Lung	lung

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