Variant report

Variant	rs7530375
Chromosome Location	chr1:212371305-212371306
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10779575	0.83[ASN][1000 genomes]
rs10863953	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10863954	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119879	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11119883	0.92[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11119884	0.87[EUR][1000 genomes]
rs11119885	0.86[EUR][1000 genomes]
rs12028026	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12029444	0.89[CEU][hapmap];0.88[CHB][hapmap];0.82[JPT][hapmap]
rs12073206	0.92[CEU][hapmap];0.88[CHB][hapmap];0.84[JPT][hapmap];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12402397	0.87[EUR][1000 genomes]
rs1389369	0.86[EUR][1000 genomes]
rs1389370	0.87[EUR][1000 genomes]
rs1472226	0.83[EUR][1000 genomes]
rs1967114	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2012917	0.85[EUR][1000 genomes]
rs2087946	0.84[EUR][1000 genomes]
rs2884512	0.82[EUR][1000 genomes]
rs35209719	0.86[EUR][1000 genomes]
rs3816912	0.87[EUR][1000 genomes]
rs4362041	0.87[EUR][1000 genomes]
rs4500383	0.88[EUR][1000 genomes]
rs4558048	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4951581	0.85[EUR][1000 genomes]
rs6540729	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6540731	0.88[EUR][1000 genomes]
rs6540732	0.88[EUR][1000 genomes]
rs6540733	0.88[EUR][1000 genomes]
rs6540734	0.86[EUR][1000 genomes]
rs6540735	0.87[EUR][1000 genomes]
rs6657900	0.86[EUR][1000 genomes]
rs6695681	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7511781	0.85[EUR][1000 genomes]
rs7515645	0.87[EUR][1000 genomes]
rs7518329	0.85[EUR][1000 genomes]
rs7537062	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7552021	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs867584	0.80[EUR][1000 genomes]
rs903120	0.85[EUR][1000 genomes]
rs903121	0.85[EUR][1000 genomes]
rs951623	0.87[EUR][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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7530375	C1orf75	Cis_1M	lymphoblastoid	RTeQTL
rs7530375	TMEM206	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212368800-212391000	Weak transcription	Thymus	Thymus
2	chr1:212369000-212376000	Weak transcription	Lung	lung
3	chr1:212370000-212375800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:212370800-212376000	Weak transcription	Fetal Thymus	thymus
5	chr1:212371200-212376000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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