Variant report

Variant	rs4800838
Chromosome Location	chr18:25606058-25606059
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10502506	0.82[CEU][hapmap];0.80[CHD][hapmap];0.94[JPT][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10502507	0.88[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1078501	0.80[TSI][hapmap];0.82[EUR][1000 genomes]
rs10853680	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10853681	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];0.88[TSI][hapmap];0.82[YRI][hapmap];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11083245	0.86[CEU][hapmap];0.93[EUR][1000 genomes]
rs11083246	0.93[CHB][hapmap];0.82[YRI][hapmap];0.91[EUR][1000 genomes]
rs11083248	0.86[CHB][hapmap];0.82[YRI][hapmap];0.90[EUR][1000 genomes]
rs1122356	0.82[CHB][hapmap];0.85[MEX][hapmap];0.83[TSI][hapmap]
rs11564297	0.80[TSI][hapmap];0.81[EUR][1000 genomes]
rs11564308	0.94[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11564316	0.80[TSI][hapmap];0.82[EUR][1000 genomes]
rs11564329	0.88[CEU][hapmap];0.93[CHB][hapmap];0.82[YRI][hapmap];0.93[EUR][1000 genomes]
rs11564330	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11564332	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11564393	0.93[CHB][hapmap];0.85[EUR][1000 genomes]
rs11564396	0.80[TSI][hapmap]
rs11564397	0.86[CHB][hapmap];0.90[CHD][hapmap];0.81[GIH][hapmap];0.88[TSI][hapmap];0.82[YRI][hapmap];0.91[EUR][1000 genomes]
rs11564405	0.91[EUR][1000 genomes]
rs11564409	0.81[EUR][1000 genomes]
rs11564412	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11564413	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11873053	0.81[EUR][1000 genomes]
rs12958882	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1373136	0.81[EUR][1000 genomes]
rs1443450	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1443451	0.94[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1443453	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]
rs17445875	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17446001	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17462962	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17463213	0.88[CEU][hapmap];0.93[CHB][hapmap];0.82[YRI][hapmap];0.93[EUR][1000 genomes]
rs17463233	0.88[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.94[EUR][1000 genomes]
rs17463295	0.86[CHB][hapmap];0.82[YRI][hapmap];0.90[EUR][1000 genomes]
rs17468531	0.81[EUR][1000 genomes]
rs17468636	1.00[CHB][hapmap];0.94[EUR][1000 genomes]
rs17468678	0.81[CEU][hapmap];0.93[CHB][hapmap]
rs1808940	0.93[CHB][hapmap];0.82[YRI][hapmap];0.91[EUR][1000 genomes]
rs1816825	0.82[CHB][hapmap];0.80[TSI][hapmap]
rs1838161	0.94[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1867285	0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.88[TSI][hapmap];0.82[YRI][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1941180	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1944292	0.88[CEU][hapmap];0.93[CHB][hapmap];0.93[EUR][1000 genomes]
rs1944294	0.94[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1972934	1.00[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];0.88[TSI][hapmap];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2053599	0.88[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.93[EUR][1000 genomes]
rs2156605	0.94[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2218361	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2310784	0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4144654	0.94[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4598992	0.94[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4800837	0.88[CEU][hapmap];0.94[JPT][hapmap];0.93[EUR][1000 genomes]
rs4800839	0.94[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4800840	0.82[CHB][hapmap];0.82[EUR][1000 genomes]
rs4800841	1.00[CHB][hapmap];0.90[CHD][hapmap];0.84[GIH][hapmap];0.88[TSI][hapmap];0.82[YRI][hapmap];0.89[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];0.95[MEX][hapmap];0.86[TSI][hapmap];0.91[AMR][1000 genomes]
rs694943	0.82[CHB][hapmap]
rs7230771	0.80[TSI][hapmap]
rs72639459	0.89[EUR][1000 genomes]
rs8091763	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8092004	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs874314	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs894679	0.93[CHB][hapmap];0.90[CHD][hapmap];0.84[GIH][hapmap];0.88[TSI][hapmap];0.82[YRI][hapmap];0.91[EUR][1000 genomes]
rs9635986	0.80[EUR][1000 genomes]
rs9789154	0.82[CHB][hapmap];0.82[EUR][1000 genomes]
rs9789221	0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.88[TSI][hapmap];0.94[EUR][1000 genomes];0.83[ASN][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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25583800-25621400	Weak transcription	Right Ventricle	heart
2	chr18:25589800-25611000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr18:25592400-25611000	Weak transcription	Brain Germinal Matrix	brain
4	chr18:25593600-25612000	Weak transcription	HUVEC	blood vessel
5	chr18:25593800-25612600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr18:25595200-25615000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr18:25599200-25612000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr18:25599200-25612000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr18:25599600-25610600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr18:25599800-25607400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr18:25600000-25611400	Weak transcription	Osteobl	bone
12	chr18:25600000-25611600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr18:25600000-25619000	Weak transcription	HSMM	muscle
14	chr18:25600800-25611800	Weak transcription	A549	lung
15	chr18:25602800-25606800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr18:25604400-25606200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr18:25605200-25611400	Weak transcription	NH-A	brain
18	chr18:25605600-25606800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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