Variant report

Variant	rs9595972
Chromosome Location	chr13:49276566-49276567
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11617924	1.00[YRI][hapmap]
rs12853985	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12875723	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1323552	0.82[EUR][1000 genomes]
rs1323553	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2146860	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4608235	0.82[EUR][1000 genomes]
rs4620866	0.82[EUR][1000 genomes]
rs4942773	0.86[AFR][1000 genomes]
rs7330127	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7332008	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7333434	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7336022	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs912278	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9316409	0.82[EUR][1000 genomes]
rs9568083	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9591194	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595960	0.80[EUR][1000 genomes]
rs9595961	0.80[EUR][1000 genomes]
rs9595965	0.86[AFR][1000 genomes]
rs9595966	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595967	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595970	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832604	chr13:49061081-49281807	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv832605	chr13:49171305-49344970	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9595972	MLNR	cis	parietal	SCAN
rs9595972	KCTD4	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49251800-49281600	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr13:49252000-49283600	Weak transcription	Primary T cells from cord blood	blood
3	chr13:49256600-49281200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr13:49259000-49302200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr13:49264000-49283800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr13:49269400-49282000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr13:49271200-49281200	Weak transcription	Left Ventricle	heart
8	chr13:49271600-49279000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr13:49272200-49279000	Weak transcription	Dnd41	blood
10	chr13:49272400-49278600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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