Variant report

Variant	rs673008
Chromosome Location	chr18:25599702-25599703
allele	C/T
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	0.82[CHB][hapmap]
rs1078501	0.94[CHB][hapmap];0.91[CHD][hapmap];0.92[GIH][hapmap];0.82[TSI][hapmap]
rs10853680	0.82[CHB][hapmap];0.88[TSI][hapmap];0.91[AMR][1000 genomes]
rs10853681	0.82[CHB][hapmap]
rs1122356	0.90[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1148376	0.94[CHB][hapmap];0.85[CHD][hapmap]
rs11564297	0.94[CHB][hapmap];0.91[CHD][hapmap];0.92[GIH][hapmap];0.82[TSI][hapmap]
rs11564308	0.88[AMR][1000 genomes]
rs11564316	0.94[CHB][hapmap];0.91[CHD][hapmap];0.92[GIH][hapmap];0.82[TSI][hapmap]
rs11564330	0.82[CHB][hapmap];0.92[AMR][1000 genomes]
rs11564332	0.82[CHB][hapmap];0.88[AMR][1000 genomes]
rs11564396	0.88[CHB][hapmap];0.85[CHD][hapmap];0.81[GIH][hapmap];0.82[TSI][hapmap]
rs11564400	0.94[CHB][hapmap]
rs11564409	0.94[CHB][hapmap];0.85[JPT][hapmap]
rs11564412	0.82[CHB][hapmap];0.88[AMR][1000 genomes]
rs11564413	0.82[CHB][hapmap];0.88[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];0.83[CHD][hapmap]
rs1234682	0.94[CHB][hapmap]
rs1238755	0.91[ASN][1000 genomes]
rs12958882	0.91[AMR][1000 genomes]
rs1373136	0.94[CHB][hapmap]
rs1373138	0.88[CHB][hapmap]
rs1443450	0.82[CHB][hapmap];0.91[AMR][1000 genomes]
rs1443451	0.92[AMR][1000 genomes]
rs1443453	0.82[CHB][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap];0.91[AMR][1000 genomes]
rs17445875	0.91[AMR][1000 genomes]
rs17446001	0.82[CHB][hapmap];0.87[AMR][1000 genomes]
rs17462962	0.84[AMR][1000 genomes]
rs17463233	0.82[CHB][hapmap]
rs17468531	0.94[CHB][hapmap]
rs17468636	0.82[CHB][hapmap]
rs1816825	1.00[CHB][hapmap];0.88[CHD][hapmap];0.84[GIH][hapmap];0.82[TSI][hapmap]
rs1838161	0.89[AMR][1000 genomes]
rs1867285	0.82[CHB][hapmap]
rs1941180	0.80[CHB][hapmap];0.89[AMR][1000 genomes]
rs1944294	0.91[MEX][hapmap];0.86[TSI][hapmap];0.87[AMR][1000 genomes]
rs1972934	0.82[CHB][hapmap]
rs2053599	0.82[CHB][hapmap]
rs2156605	0.92[AMR][1000 genomes]
rs2218361	0.82[CHB][hapmap];0.91[AMR][1000 genomes]
rs2920447	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs4144654	0.87[AMR][1000 genomes]
rs4598992	0.82[CHB][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap]
rs4800838	0.82[CHB][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.91[AMR][1000 genomes]
rs4800839	0.88[AMR][1000 genomes]
rs4800840	1.00[CHB][hapmap]
rs4800841	0.82[CHB][hapmap]
rs490820	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]
rs500643	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs533602	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.87[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	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs576467	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs584936	1.00[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];0.97[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs602819	0.94[CHB][hapmap]
rs614966	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs623234	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs643555	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs647733	1.00[CHB][hapmap]
rs656642	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs665651	0.94[CHB][hapmap]
rs665781	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs694943	1.00[CHB][hapmap]
rs7230771	0.94[CHB][hapmap];0.91[CHD][hapmap];0.92[GIH][hapmap];0.82[TSI][hapmap]
rs7237382	0.88[CHB][hapmap]
rs8087457	0.81[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs8087860	0.94[CHB][hapmap];0.85[CHD][hapmap]
rs8091314	0.88[CHB][hapmap]
rs8091763	0.82[CHB][hapmap];0.92[AMR][1000 genomes]
rs8092004	0.82[CHB][hapmap];0.92[AMR][1000 genomes]
rs9635986	0.87[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:24 , 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	chr18:25595200-25602800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr18:25595200-25603800	Weak transcription	NH-A	brain
8	chr18:25595200-25615000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr18:25597800-25600200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr18:25598000-25599800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr18:25598200-25599800	Weak transcription	HepG2	liver
12	chr18:25599000-25600000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr18:25599000-25600000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr18:25599000-25600000	Enhancers	HSMM	muscle
15	chr18:25599000-25600200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr18:25599000-25600600	Enhancers	Liver	Liver
17	chr18:25599200-25603000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr18:25599200-25612000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr18:25599200-25612000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr18:25599400-25600000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr18:25599400-25600000	Enhancers	Osteobl	bone
22	chr18:25599400-25600200	Enhancers	HMEC	breast
23	chr18:25599400-25600800	Enhancers	A549	lung
24	chr18:25599600-25610600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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