Variant report

Variant	rs17144664
Chromosome Location	chr5:118141412-118141413
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118140828..118142755-chr5:118221049..118222690,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1156413	0.90[AMR][1000 genomes]
rs12108713	1.00[ASN][1000 genomes]
rs12109512	1.00[ASN][1000 genomes]
rs12109542	1.00[ASN][1000 genomes]
rs12109733	1.00[ASN][1000 genomes]
rs12109968	1.00[ASN][1000 genomes]
rs12109982	1.00[ASN][1000 genomes]
rs12109987	1.00[ASN][1000 genomes]
rs12109992	1.00[ASN][1000 genomes]
rs1366457	1.00[ASN][1000 genomes]
rs1397582	0.90[AMR][1000 genomes]
rs1397583	0.90[AMR][1000 genomes]
rs1473231	1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1473337	1.00[JPT][hapmap]
rs1510969	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1510975	0.90[AMR][1000 genomes]
rs17144532	0.90[AMR][1000 genomes]
rs17144539	0.90[AMR][1000 genomes]
rs17144540	0.90[AMR][1000 genomes]
rs17144549	0.90[AMR][1000 genomes]
rs17144580	0.90[AMR][1000 genomes]
rs17144602	0.80[AMR][1000 genomes]
rs17144623	0.90[AMR][1000 genomes]
rs17144624	0.90[AMR][1000 genomes]
rs17144636	0.90[AMR][1000 genomes]
rs17144640	0.90[AMR][1000 genomes]
rs17144648	0.90[AMR][1000 genomes]
rs17144657	0.90[AMR][1000 genomes]
rs17144680	1.00[ASN][1000 genomes]
rs17144684	1.00[ASN][1000 genomes]
rs17144687	1.00[ASN][1000 genomes]
rs17144694	1.00[ASN][1000 genomes]
rs17144711	1.00[ASN][1000 genomes]
rs17144732	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17144738	1.00[JPT][hapmap];0.90[AMR][1000 genomes]
rs17144744	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17144795	1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17144813	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17144818	1.00[JPT][hapmap];0.90[AMR][1000 genomes]
rs17144857	1.00[JPT][hapmap]
rs17164564	1.00[ASN][1000 genomes]
rs2161349	1.00[JPT][hapmap]
rs34164145	1.00[ASN][1000 genomes]
rs6880225	0.80[AMR][1000 genomes]
rs7722027	1.00[JPT][hapmap]
rs918389	0.90[AMR][1000 genomes]
rs976586	1.00[JPT][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	nsv1032241	chr5:117900051-118157400	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv882767	chr5:117931730-118385691	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv882769	chr5:118088385-118154368	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv599562	chr5:118122504-118230640	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118127000-118160000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:118127600-118143200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:118127800-118143400	Weak transcription	Psoas Muscle	Psoas
4	chr5:118137800-118143200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr5:118138000-118146000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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