Variant report

Variant	rs3917751
Chromosome Location	chr1:169576568-169576569
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1997664	0.91[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2142760	0.82[ASN][1000 genomes]
rs2205895	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2223303	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2420378	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3766126	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3917750	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917768	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs3917775	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs3917777	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs760694	0.85[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	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats 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	56 gene(s)	inside rSNPs	diseases
2	nsv517483	chr1:169576568-169581258	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3917751	F5	cis	Whole Blood	GTEx
rs3917751	METTL13	cis	parietal	SCAN
rs3917751	ATP1B1	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169565400-169581400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:169570400-169576600	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr1:169570400-169585400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:169574800-169576600	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr1:169574800-169578800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:169574800-169583000	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr1:169575200-169580600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:169575400-169577200	Weak transcription	Primary B cells from cord blood	blood
9	chr1:169576000-169578800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr1:169576000-169580200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:169576200-169578000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr1:169576400-169578200	Weak transcription	Primary T cells from cord blood	blood
13	chr1:169576400-169578400	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr1:169576400-169579200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr1:169576400-169580800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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