Variant report

Variant	rs2959079
Chromosome Location	chr11:4032066-4032067
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10742223	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10767807	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11030394	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11030536	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11030608	0.83[EUR][1000 genomes]
rs11030853	0.82[AMR][1000 genomes]
rs11030907	0.81[AMR][1000 genomes]
rs11604649	0.86[AMR][1000 genomes]
rs12364664	0.80[AMR][1000 genomes]
rs1372804	0.81[AMR][1000 genomes]
rs1372805	0.86[AMR][1000 genomes]
rs2304891	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2412344	0.81[AMR][1000 genomes]
rs2920139	0.80[AMR][1000 genomes]
rs2920144	0.84[AMR][1000 genomes]
rs2923944	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2923945	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2923948	0.89[EUR][1000 genomes]
rs2923953	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2923956	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2958713	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2958714	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2959056	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2959065	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2959070	0.81[AMR][1000 genomes]
rs2959075	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2959077	0.87[EUR][1000 genomes]
rs2959081	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61188043	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7102508	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs7110060	0.82[AMR][1000 genomes]
rs7116520	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs7124301	0.82[AMR][1000 genomes]
rs747883	0.81[AMR][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	nsv1046065	chr11:3808818-4049150	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv540909	chr11:3808818-4049150	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv896896	chr11:4010409-4185595	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1042719	chr11:4017541-4101609	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2959079	RRM1	cis	Artery Tibial	GTEx
rs2959079	RRM1	cis	Nerve Tibial	GTEx

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4017400-4041400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr11:4017600-4043400	Weak transcription	Primary B cells from cord blood	blood
3	chr11:4020800-4037600	Weak transcription	Pancreas	Pancrea
4	chr11:4020800-4045000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr11:4021000-4032200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr11:4021000-4043600	Weak transcription	Thymus	Thymus
7	chr11:4021000-4044200	Weak transcription	Fetal Thymus	thymus
8	chr11:4021000-4044400	Weak transcription	Dnd41	blood
9	chr11:4028800-4043400	Weak transcription	Primary T cells from cord blood	blood
10	chr11:4029000-4041400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr11:4029200-4037000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr11:4029600-4037200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr11:4030000-4037600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr11:4030200-4044800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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