Variant report

Variant	rs6595765
Chromosome Location	chr5:126724473-126724474
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10519936	0.83[EUR][1000 genomes]
rs10519937	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10519938	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11949373	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11950058	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11952552	0.81[EUR][1000 genomes]
rs11952947	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11953024	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11958435	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11959505	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12233927	0.81[EUR][1000 genomes]
rs12234066	0.81[EUR][1000 genomes]
rs1363385	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1363388	0.82[EUR][1000 genomes]
rs1363631	0.81[EUR][1000 genomes]
rs1422318	0.83[EUR][1000 genomes]
rs1529467	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17164979	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17164996	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs173509	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17604615	0.81[EUR][1000 genomes]
rs17604665	0.81[EUR][1000 genomes]
rs17839695	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3812055	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4563674	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6595764	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6595767	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6595769	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67200948	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67854568	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs68035691	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6874392	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6881894	0.82[EUR][1000 genomes]
rs6888010	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6891785	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6892742	0.86[AMR][1000 genomes]
rs6897290	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72788578	0.81[EUR][1000 genomes]
rs72788581	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv830478	chr5:126721368-126937408	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 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	chr5:126691000-126746000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:126707800-126725400	Weak transcription	Brain Angular Gyrus	brain
3	chr5:126707800-126729000	Weak transcription	Brain Substantia Nigra	brain
4	chr5:126707800-126731600	Weak transcription	Brain Anterior Caudate	brain
5	chr5:126710000-126731800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr5:126710200-126741200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:126711800-126724800	Weak transcription	Brain Hippocampus Middle	brain
8	chr5:126712800-126734200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:126714800-126732200	Weak transcription	HSMMtube	muscle
10	chr5:126715200-126731600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:126720000-126732400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr5:126720000-126732400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr5:126720000-126742000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:126720600-126728000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr5:126720800-126729000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:126722800-126736000	Weak transcription	HSMM	muscle
17	chr5:126723000-126728400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr5:126723800-126725000	Strong transcription	Fetal Muscle Leg	muscle

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