Variant report

Variant	rs1443453
Chromosome Location	chr18:25593931-25593932
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10502506	0.87[CEU][hapmap];0.89[JPT][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10502507	0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes]
rs1078501	0.80[TSI][hapmap]
rs10853680	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10853681	0.82[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap];0.88[TSI][hapmap];0.91[EUR][1000 genomes]
rs11083245	0.93[CEU][hapmap];0.90[EUR][1000 genomes]
rs11083246	0.81[CEU][hapmap];0.93[CHB][hapmap];0.88[EUR][1000 genomes]
rs11083248	0.81[CEU][hapmap];0.86[CHB][hapmap];0.87[EUR][1000 genomes]
rs1122356	0.82[CHB][hapmap];0.82[MEX][hapmap];0.83[TSI][hapmap]
rs11564297	0.80[TSI][hapmap]
rs11564308	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11564316	0.80[TSI][hapmap]
rs11564329	0.94[CEU][hapmap];0.93[CHB][hapmap];0.90[EUR][1000 genomes]
rs11564330	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11564332	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11564393	0.93[CHB][hapmap];0.82[EUR][1000 genomes]
rs11564396	0.80[TSI][hapmap]
rs11564397	0.82[ASW][hapmap];0.81[CEU][hapmap];0.86[CHB][hapmap];0.80[CHD][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes]
rs11564405	0.81[CEU][hapmap];0.88[EUR][1000 genomes]
rs11564412	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11564413	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12958882	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1443450	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1443451	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17445875	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17446001	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17462962	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17463213	0.94[CEU][hapmap];0.93[CHB][hapmap];0.90[EUR][1000 genomes]
rs17463233	0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes]
rs17463295	0.81[CEU][hapmap];0.86[CHB][hapmap];0.87[EUR][1000 genomes]
rs17468636	0.81[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes]
rs17468678	0.87[CEU][hapmap];0.93[CHB][hapmap]
rs1808940	0.80[CEU][hapmap];0.93[CHB][hapmap];0.88[EUR][1000 genomes]
rs1816825	0.82[CHB][hapmap];0.80[TSI][hapmap]
rs1838161	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1867285	0.82[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.87[GIH][hapmap];0.88[TSI][hapmap];0.91[EUR][1000 genomes]
rs1941180	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1944292	0.94[CEU][hapmap];0.93[CHB][hapmap];0.90[EUR][1000 genomes]
rs1944294	1.00[CEU][hapmap];0.93[CHB][hapmap];0.86[CHD][hapmap];0.94[GIH][hapmap];0.94[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1972934	0.82[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap];0.88[TSI][hapmap];0.91[EUR][1000 genomes]
rs2053599	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes]
rs2156605	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.85[YRI][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2218361	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2310784	0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4144654	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4598992	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4800837	0.94[CEU][hapmap];0.89[JPT][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4800838	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4800839	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4800840	0.82[CHB][hapmap]
rs4800841	0.82[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.81[GIH][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes]
rs490820	0.82[CHB][hapmap];0.89[AMR][1000 genomes]
rs500643	0.82[CHB][hapmap]
rs533602	0.84[AMR][1000 genomes]
rs565509	0.82[CHB][hapmap]
rs568575	0.91[AMR][1000 genomes]
rs576467	0.82[CHB][hapmap]
rs584936	0.82[CHB][hapmap]
rs597591	0.82[CHB][hapmap]
rs614966	0.82[CHB][hapmap]
rs623234	0.82[CHB][hapmap]
rs647733	0.82[CHB][hapmap]
rs656642	0.82[CHB][hapmap];0.84[AMR][1000 genomes]
rs665781	0.82[CHB][hapmap]
rs673008	0.82[CHB][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap];0.91[AMR][1000 genomes]
rs694943	0.82[CHB][hapmap]
rs7230771	0.80[TSI][hapmap]
rs72639459	0.86[EUR][1000 genomes]
rs8091763	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8092004	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs874314	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs894679	0.82[ASW][hapmap];0.81[CEU][hapmap];0.93[CHB][hapmap];0.80[CHD][hapmap];0.81[GIH][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes]
rs9789154	0.82[CHB][hapmap]
rs9789221	0.94[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.87[GIH][hapmap];0.88[TSI][hapmap];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761996	chr18:24866083-25818618	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1066192	chr18:25454413-25606736	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv543669	chr18:25454413-25606736	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv833605	chr18:25467096-25643447	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25556200-25595800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:25580600-25595800	Weak transcription	Left Ventricle	heart
3	chr18:25582600-25594000	Weak transcription	Dnd41	blood
4	chr18:25583600-25599000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:25583800-25621400	Weak transcription	Right Ventricle	heart
6	chr18:25584400-25594200	Weak transcription	Brain Anterior Caudate	brain
7	chr18:25584400-25595000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr18:25585800-25594000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr18:25589800-25611000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr18:25590000-25596000	Weak transcription	Fetal Brain Female	brain
11	chr18:25591400-25594400	Enhancers	Fetal Lung	lung
12	chr18:25591600-25595800	Weak transcription	HepG2	liver
13	chr18:25592000-25594000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr18:25592000-25595200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr18:25592000-25599000	Weak transcription	Liver	Liver
16	chr18:25592400-25611000	Weak transcription	Brain Germinal Matrix	brain
17	chr18:25592600-25594200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr18:25592800-25594000	Weak transcription	Fetal Stomach	stomach
19	chr18:25592800-25594400	Enhancers	A549	lung
20	chr18:25593400-25596200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr18:25593600-25594200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr18:25593600-25594400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr18:25593600-25594400	Enhancers	Right Atrium	heart
24	chr18:25593600-25595200	Enhancers	Fetal Kidney	kidney
25	chr18:25593600-25595800	Enhancers	Osteobl	bone
26	chr18:25593600-25612000	Weak transcription	HUVEC	blood vessel
27	chr18:25593800-25594000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr18:25593800-25594400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr18:25593800-25594600	Enhancers	HSMM	muscle
30	chr18:25593800-25594800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr18:25593800-25595200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr18:25593800-25595200	Enhancers	NH-A	brain
33	chr18:25593800-25595800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr18:25593800-25612600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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