Variant report

Variant	rs1443451
Chromosome Location	chr18:25612193-25612194
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10502506	0.87[CEU][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10502507	0.94[CEU][hapmap];0.94[CHB][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1078501	0.82[CHB][hapmap];0.81[EUR][1000 genomes]
rs10853680	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10853681	0.94[CEU][hapmap];0.93[CHB][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11083245	0.93[CEU][hapmap];0.92[EUR][1000 genomes]
rs11083246	0.82[CEU][hapmap];0.88[CHB][hapmap];0.90[EUR][1000 genomes]
rs11083248	0.82[CEU][hapmap];0.94[CHB][hapmap];0.91[EUR][1000 genomes]
rs1148376	0.82[CHB][hapmap]
rs11564297	0.82[CHB][hapmap];0.80[EUR][1000 genomes]
rs11564308	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11564316	0.82[CHB][hapmap];0.81[EUR][1000 genomes]
rs11564329	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes]
rs11564330	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11564332	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11564393	0.88[CHB][hapmap];0.84[EUR][1000 genomes]
rs11564397	0.81[CEU][hapmap];0.93[CHB][hapmap];0.90[EUR][1000 genomes]
rs11564405	0.82[CEU][hapmap];0.90[EUR][1000 genomes]
rs11564409	0.83[CHB][hapmap];0.80[EUR][1000 genomes]
rs11564412	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11564413	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11873053	0.83[CHB][hapmap];0.80[EUR][1000 genomes]
rs1234682	0.83[CHB][hapmap]
rs12958882	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1373136	0.83[CHB][hapmap];0.80[EUR][1000 genomes]
rs1443450	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1443453	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	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17446001	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17462962	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17463213	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes]
rs17463233	0.94[CEU][hapmap];0.94[CHB][hapmap];0.93[EUR][1000 genomes]
rs17463295	0.82[CEU][hapmap];0.94[CHB][hapmap];0.91[EUR][1000 genomes]
rs17468531	0.83[CHB][hapmap];0.80[EUR][1000 genomes]
rs17468636	0.82[CEU][hapmap];0.94[CHB][hapmap];0.93[EUR][1000 genomes]
rs17468678	0.88[CEU][hapmap];0.87[CHB][hapmap]
rs1808940	0.81[CEU][hapmap];0.88[CHB][hapmap];0.90[EUR][1000 genomes]
rs1838161	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1867285	0.94[CEU][hapmap];0.93[CHB][hapmap];0.93[EUR][1000 genomes]
rs1941180	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1944292	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes]
rs1944294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1972934	0.82[CEU][hapmap];0.93[CHB][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2053599	0.94[CEU][hapmap];0.94[CHB][hapmap];0.92[EUR][1000 genomes]
rs2156605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2218361	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2310784	1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4144654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4598992	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4800837	0.94[CEU][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes]
rs4800838	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]
rs4800839	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4800840	0.81[EUR][1000 genomes]
rs4800841	0.81[CEU][hapmap];0.93[CHB][hapmap];0.88[EUR][1000 genomes]
rs490820	0.91[AMR][1000 genomes]
rs533602	0.83[CHB][hapmap];0.85[AMR][1000 genomes]
rs539075	0.87[CHB][hapmap]
rs568575	0.83[CHB][hapmap];0.92[AMR][1000 genomes]
rs587613	0.83[CHB][hapmap]
rs656642	0.85[AMR][1000 genomes]
rs665651	0.83[CHB][hapmap]
rs673008	0.92[AMR][1000 genomes]
rs7230771	0.82[CHB][hapmap]
rs72639459	0.88[EUR][1000 genomes]
rs8091763	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8092004	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs874314	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs894679	0.81[CEU][hapmap];0.87[CHB][hapmap];0.90[EUR][1000 genomes]
rs9789154	0.81[EUR][1000 genomes]
rs9789221	0.94[CEU][hapmap];0.93[CHB][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	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	chr18:25593800-25612600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr18:25595200-25615000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr18:25600000-25619000	Weak transcription	HSMM	muscle
5	chr18:25609800-25621600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr18:25610600-25615000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr18:25611000-25612400	Enhancers	Brain Germinal Matrix	brain
8	chr18:25611000-25613000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr18:25611400-25612200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr18:25611400-25612400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr18:25611400-25612800	Enhancers	NH-A	brain
12	chr18:25611400-25612800	Enhancers	Osteobl	bone
13	chr18:25611400-25615800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr18:25611600-25612400	Weak transcription	Fetal Heart	heart
15	chr18:25611600-25612600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr18:25611800-25612200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr18:25611800-25612200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr18:25611800-25612800	Enhancers	A549	lung
19	chr18:25612000-25612800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr18:25612000-25612800	Enhancers	HUVEC	blood vessel
21	chr18:25612000-25613000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr18:25612000-25613400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr18:25612000-25614800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr18:25612000-25615800	Enhancers	Cortex derived primary cultured neurospheres	brain

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