Variant report

Variant	rs1422318
Chromosome Location	chr5:126705920-126705921
allele	A/G
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]
rs10519936	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10519937	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10519938	1.00[CEU][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11743934	1.00[CEU][hapmap];0.80[JPT][hapmap];0.88[EUR][1000 genomes]
rs11949330	0.87[EUR][1000 genomes]
rs11949373	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11950058	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11950427	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[ASN][1000 genomes]
rs11952366	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11952552	1.00[CEU][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11952947	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11953024	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11958435	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11959505	1.00[CEU][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12233927	1.00[CEU][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12234066	1.00[CEU][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1363385	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1363388	1.00[CEU][hapmap];0.82[JPT][hapmap];0.98[EUR][1000 genomes]
rs1363631	1.00[CEU][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1529467	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1593949	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1593950	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17164903	0.88[EUR][1000 genomes]
rs17164915	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17164935	0.85[CEU][hapmap]
rs17164979	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17164995	0.86[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17164996	0.85[CEU][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17165090	1.00[CEU][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs173509	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17604615	0.85[CEU][hapmap]
rs17604665	0.86[CEU][hapmap]
rs17604889	0.85[CEU][hapmap]
rs17673685	0.85[CEU][hapmap]
rs17839693	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs17839695	0.86[CEU][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2173978	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2408871	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[ASN][1000 genomes]
rs2408873	0.86[EUR][1000 genomes]
rs2434620	0.87[EUR][1000 genomes]
rs2898044	0.80[EUR][1000 genomes]
rs3756721	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3812055	0.85[CEU][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3844184	1.00[CEU][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3851469	1.00[CEU][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3909351	1.00[CEU][hapmap];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4395678	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4563674	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4604231	0.88[EUR][1000 genomes]
rs4637594	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55663031	0.88[EUR][1000 genomes]
rs55763657	0.88[EUR][1000 genomes]
rs56006993	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57411417	0.88[EUR][1000 genomes]
rs59745967	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60153933	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60901740	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61175766	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6595764	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6595765	0.83[EUR][1000 genomes]
rs6595767	0.85[CEU][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6595769	0.85[CEU][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67200948	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67425941	0.88[EUR][1000 genomes]
rs67854568	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs68035691	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6874392	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6874521	0.86[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6874752	0.91[ASN][1000 genomes]
rs6881894	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs6886487	0.95[EUR][1000 genomes]
rs6888010	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6891785	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6897290	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72790422	0.89[ASN][1000 genomes]
rs72790424	0.91[ASN][1000 genomes]
rs72790426	0.91[ASN][1000 genomes]
rs72790443	0.83[EUR][1000 genomes]
rs7700469	0.81[AMR][1000 genomes];0.87[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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1032587	chr5:126691103-126826978	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126691000-126746000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:126702000-126707000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:126703400-126707000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:126703400-126707800	Enhancers	Brain Substantia Nigra	brain
5	chr5:126703600-126706600	Weak transcription	Psoas Muscle	Psoas
6	chr5:126703600-126707400	Weak transcription	Brain Angular Gyrus	brain
7	chr5:126703600-126708400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:126703800-126708200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:126703800-126709600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr5:126703800-126709600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr5:126703800-126709800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:126704000-126706800	Weak transcription	Brain Anterior Caudate	brain
13	chr5:126704000-126712400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr5:126704200-126706600	Weak transcription	Fetal Muscle Leg	muscle
15	chr5:126704200-126706800	Weak transcription	HMEC	breast
16	chr5:126704400-126706600	Enhancers	HSMMtube	muscle
17	chr5:126704400-126707800	Enhancers	HSMM	muscle
18	chr5:126704800-126706400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:126704800-126706600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr5:126704800-126707000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr5:126705000-126706400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:126705000-126706800	Enhancers	Muscle Satellite Cultured Cells	--
23	chr5:126705200-126706200	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr5:126705400-126706000	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr5:126705600-126707600	Enhancers	Brain Cingulate Gyrus	brain
26	chr5:126705600-126707800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:126705800-126706000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:126705800-126706600	Weak transcription	Fetal Brain Male	brain
29	chr5:126705800-126706800	Weak transcription	Brain Hippocampus Middle	brain

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