Variant report

Variant	rs2774920
Chromosome Location	chr1:94611300-94611301
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11581939	0.82[CHB][hapmap];0.90[CHD][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs12067736	0.91[ASN][1000 genomes]
rs12075780	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12077584	1.00[CHB][hapmap];0.94[CHD][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs12077639	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12089919	0.96[ASN][1000 genomes]
rs12091344	0.96[ASN][1000 genomes]
rs1411702	1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs17111161	1.00[CEU][hapmap];0.91[CHB][hapmap];0.81[CHD][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17111205	1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs17111206	1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs2150268	1.00[CHB][hapmap];0.93[JPT][hapmap];0.99[ASN][1000 genomes]
rs28796027	0.91[ASN][1000 genomes]
rs3789689	1.00[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs3789691	1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs3789692	0.90[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs6673184	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6677288	0.92[CHB][hapmap];0.95[CHD][hapmap];0.88[ASN][1000 genomes]
rs6682149	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs871661	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[JPT][hapmap];0.93[EUR][1000 genomes];0.93[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	nsv871416	chr1:94566311-94635028	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv871210	chr1:94579426-94629643	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
D-dimer levels	21502573	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94600600-94612200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:94608000-94614400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr1:94608400-94613800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:94608400-94632400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:94609800-94612400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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