Variant report

Variant	rs746365
Chromosome Location	chr5:2006779-2006780
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:1923598..1926065-chr5:2006441..2007973,2	K562	blood:
2	chr5:1996819..1999293-chr5:2006746..2009564,3	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10037957	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10038712	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10040620	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10076791	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10512638	0.88[ASN][1000 genomes]
rs11133919	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12513689	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12659582	0.88[ASN][1000 genomes]
rs13153232	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13179979	0.88[ASN][1000 genomes]
rs13187786	0.90[ASN][1000 genomes]
rs13189295	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13359574	0.88[EUR][1000 genomes]
rs16902181	0.87[ASW][hapmap];0.89[JPT][hapmap]
rs16902267	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17518774	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2087141	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28664256	0.93[ASN][1000 genomes]
rs33941693	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34262770	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35479209	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4277952	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4493711	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4583926	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4975778	0.87[ASW][hapmap];0.87[CEU][hapmap];0.85[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];0.89[JPT][hapmap];0.88[LWK][hapmap];0.86[ASN][1000 genomes]
rs4975781	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4975785	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4975787	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56350722	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62337136	0.85[ASN][1000 genomes]
rs62337140	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62338675	0.83[EUR][1000 genomes]
rs66512005	0.86[ASN][1000 genomes]
rs72708618	0.83[ASN][1000 genomes]
rs7447402	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7448903	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs746364	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs901499	0.82[MEX][hapmap]
rs9312971	0.86[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817407	chr5:1495354-2191460	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv869236	chr5:1719263-2259100	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
3	nsv915846	chr5:1891098-2167677	Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1026930	chr5:1898993-2126061	Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv427705	chr5:1950467-2115059	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv4681	chr5:1967628-2010091	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs746365	SLC6A18	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1992000-2007000	Weak transcription	Right Ventricle	heart
2	chr5:2003800-2007400	Weak transcription	Fetal Heart	heart
3	chr5:2004200-2007800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:2004600-2007600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:2005400-2007400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr5:2005600-2007600	Enhancers	Adipose Nuclei	Adipose
7	chr5:2006000-2006800	Bivalent Enhancer	Fetal Stomach	stomach
8	chr5:2006000-2008000	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr5:2006000-2008200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:2006200-2007600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:2006200-2008000	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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