Variant report

Variant	rs2358452
Chromosome Location	chr1:212359049-212359050
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	chr1:212358356..212360548-chr1:212371343..212374301,2	K562	blood:
2	chr1:212350500..212353669-chr1:212356287..212359186,4	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10436962	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10436976	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10779574	0.86[AFR][1000 genomes]
rs10863952	0.89[AFR][1000 genomes]
rs11119875	0.92[AFR][1000 genomes]
rs11119880	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11119887	0.89[EUR][1000 genomes]
rs12038888	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12039815	0.87[AFR][1000 genomes]
rs12041554	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12742898	0.90[ASN][1000 genomes]
rs12746096	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1472224	0.99[ASN][1000 genomes]
rs2307128	0.90[EUR][1000 genomes]
rs4325202	0.99[ASN][1000 genomes]
rs6668866	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs6679064	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6679796	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs7519168	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs7542973	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
rs2358452	TMEM206	cis	Esophagus Mucosa	GTEx
rs2358452	C1orf75	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212336800-212359600	Weak transcription	Dnd41	blood
2	chr1:212350600-212359600	Weak transcription	K562	blood
3	chr1:212353000-212361200	Weak transcription	Right Atrium	heart
4	chr1:212353200-212361200	Weak transcription	Lung	lung
5	chr1:212354000-212360400	Weak transcription	Esophagus	oesophagus
6	chr1:212354200-212359800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:212354200-212360000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:212354200-212361200	Weak transcription	HMEC	breast
9	chr1:212355200-212361200	Weak transcription	Left Ventricle	heart
10	chr1:212356000-212359800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:212356000-212360600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:212356200-212361000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr1:212357600-212359800	Weak transcription	HepG2	liver
14	chr1:212357800-212359600	Weak transcription	Adipose Nuclei	Adipose
15	chr1:212357800-212359600	Weak transcription	Spleen	Spleen
16	chr1:212357800-212359800	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr1:212357800-212359800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:212357800-212361200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr1:212358000-212359800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr1:212358000-212361200	Weak transcription	Placenta	Placenta
21	chr1:212358000-212362600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:212358200-212359600	Weak transcription	Primary monocytes fromperipheralblood	blood

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