Variant report

Variant	rs630410
Chromosome Location	chr1:67219574-67219575
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11811067	0.87[ASN][1000 genomes]
rs12119578	0.86[ASN][1000 genomes]
rs12138266	0.84[ASN][1000 genomes]
rs1280309	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2016093	0.97[ASN][1000 genomes]
rs2274987	0.96[ASN][1000 genomes]
rs473470	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs485122	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs487833	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs500905	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs512691	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs523544	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs524204	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs531386	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs538659	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs553729	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs562348	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs609906	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs609939	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs610295	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs624277	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs657808	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6663604	0.98[ASN][1000 genomes]
rs6679379	0.83[ASN][1000 genomes]
rs678253	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs693956	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7541249	0.95[ASN][1000 genomes]
rs9988481	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv830093	chr1:67173594-67348264	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	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
rs630410	TCTEX1D1	cis	Whole Blood	GTEx

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67217200-67220400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:67217200-67220800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:67218800-67223400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr1:67219000-67219600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:67219000-67219600	Enhancers	Left Ventricle	heart
6	chr1:67219000-67220800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr1:67219000-67222800	Weak transcription	Pancreas	Pancrea
8	chr1:67219000-67223400	Weak transcription	Brain Substantia Nigra	brain
9	chr1:67219000-67223400	Weak transcription	Fetal Heart	heart
10	chr1:67219000-67223600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:67219000-67223800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:67219000-67224000	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:67219000-67224000	Weak transcription	Right Atrium	heart
14	chr1:67219000-67227200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:67219200-67219600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr1:67219200-67219800	Weak transcription	Brain Anterior Caudate	brain
17	chr1:67219200-67220800	Enhancers	Primary hematopoietic stem cells	blood
18	chr1:67219200-67221200	Weak transcription	Liver	Liver

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