Variant report

Variant	rs490820
Chromosome Location	chr18:25596894-25596895
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10502507	0.83[CHB][hapmap]
rs1078501	0.94[CHB][hapmap]
rs10853680	0.82[CHB][hapmap];0.92[AMR][1000 genomes]
rs10853681	0.82[CHB][hapmap]
rs1122356	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1148376	0.94[CHB][hapmap]
rs11564297	0.94[CHB][hapmap]
rs11564308	0.89[AMR][1000 genomes]
rs11564316	0.94[CHB][hapmap]
rs11564330	0.83[CHB][hapmap];0.91[AMR][1000 genomes]
rs11564332	0.87[AMR][1000 genomes]
rs11564396	0.88[CHB][hapmap]
rs11564400	0.94[CHB][hapmap]
rs11564409	0.94[CHB][hapmap];0.85[JPT][hapmap]
rs11564412	0.83[CHB][hapmap];0.89[AMR][1000 genomes]
rs11564413	0.83[CHB][hapmap];0.89[AMR][1000 genomes]
rs11873053	0.94[CHB][hapmap]
rs1220015	0.88[CHB][hapmap]
rs1220016	0.88[CHB][hapmap]
rs1220146	0.90[ASN][1000 genomes]
rs1228419	0.88[CHB][hapmap]
rs1234682	0.94[CHB][hapmap]
rs1238755	0.91[ASN][1000 genomes]
rs12958882	0.92[AMR][1000 genomes]
rs1373136	0.94[CHB][hapmap]
rs1373138	0.88[CHB][hapmap]
rs1443450	0.83[CHB][hapmap];0.89[AMR][1000 genomes]
rs1443451	0.91[AMR][1000 genomes]
rs1443453	0.82[CHB][hapmap];0.89[AMR][1000 genomes]
rs17445875	0.92[AMR][1000 genomes]
rs17446001	0.83[CHB][hapmap];0.88[AMR][1000 genomes]
rs17462962	0.83[AMR][1000 genomes]
rs17463233	0.83[CHB][hapmap]
rs17468531	0.94[CHB][hapmap]
rs17468636	0.83[CHB][hapmap]
rs1816825	1.00[CHB][hapmap]
rs1838161	0.91[AMR][1000 genomes]
rs1867285	0.82[CHB][hapmap]
rs1941180	0.88[AMR][1000 genomes]
rs1944294	0.88[AMR][1000 genomes]
rs1972934	0.82[CHB][hapmap]
rs2053599	0.83[CHB][hapmap]
rs2156605	0.91[AMR][1000 genomes]
rs2218361	0.83[CHB][hapmap];0.89[AMR][1000 genomes]
rs2920447	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs4144654	0.88[AMR][1000 genomes]
rs4598992	0.82[CHB][hapmap]
rs4800838	0.82[CHB][hapmap];0.89[AMR][1000 genomes]
rs4800839	0.89[AMR][1000 genomes]
rs4800840	1.00[CHB][hapmap]
rs4800841	0.82[CHB][hapmap]
rs500643	1.00[CHB][hapmap]
rs533602	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs539075	0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs565509	1.00[CHB][hapmap]
rs568575	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs576467	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs584936	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs587526	0.88[CHB][hapmap]
rs587613	0.94[CHB][hapmap]
rs597591	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs602819	0.94[CHB][hapmap]
rs614966	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs623234	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs643555	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs647733	1.00[CHB][hapmap]
rs656642	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs665651	0.94[CHB][hapmap]
rs665781	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs673008	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs694943	1.00[CHB][hapmap]
rs7230771	0.94[CHB][hapmap]
rs7237382	0.88[CHB][hapmap]
rs8087457	0.81[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs8087860	0.94[CHB][hapmap]
rs8091314	0.88[CHB][hapmap]
rs8091763	0.83[CHB][hapmap];0.91[AMR][1000 genomes]
rs8092004	0.83[CHB][hapmap];0.91[AMR][1000 genomes]
rs9635986	0.88[CHB][hapmap]
rs9789154	1.00[CHB][hapmap]
rs9789221	0.82[CHB][hapmap]

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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25583600-25599000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr18:25583800-25621400	Weak transcription	Right Ventricle	heart
3	chr18:25589800-25611000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr18:25592000-25599000	Weak transcription	Liver	Liver
5	chr18:25592400-25611000	Weak transcription	Brain Germinal Matrix	brain
6	chr18:25593600-25612000	Weak transcription	HUVEC	blood vessel
7	chr18:25593800-25612600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr18:25594400-25597800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr18:25594400-25599400	Weak transcription	A549	lung
10	chr18:25594600-25599000	Weak transcription	HSMM	muscle
11	chr18:25595200-25597000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr18:25595200-25599000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr18:25595200-25602800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr18:25595200-25603800	Weak transcription	NH-A	brain
15	chr18:25595200-25615000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr18:25595800-25598600	Weak transcription	Osteobl	bone
17	chr18:25596200-25599000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr18:25596200-25599000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr18:25596400-25599400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr18:25596800-25599200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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