Variant report

Variant	rs3845383
Chromosome Location	chr1:179727800-179727801
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:179726467..179730453-chr1:179732231..179735886,3	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1052447	0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10798718	0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.95[ASN][1000 genomes]
rs10798719	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10798720	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10798721	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10913868	0.81[JPT][hapmap]
rs10913874	0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10913875	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs10913876	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10913877	0.95[ASN][1000 genomes]
rs10913878	0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10913879	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.96[ASN][1000 genomes]
rs11578918	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs12047821	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12408874	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12408882	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs16854629	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2245195	0.90[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2245610	0.81[ASN][1000 genomes]
rs2245702	0.81[CHB][hapmap];0.90[CHD][hapmap];0.81[ASN][1000 genomes]
rs2318389	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2454193	0.84[ASN][1000 genomes]
rs2454195	0.95[ASN][1000 genomes]
rs2454196	0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2454197	0.83[ASN][1000 genomes]
rs2487739	0.92[ASN][1000 genomes]
rs2487740	0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2487746	0.81[ASN][1000 genomes]
rs2504034	0.81[CHB][hapmap];0.90[CHD][hapmap]
rs2504035	0.81[ASN][1000 genomes]
rs2504038	0.80[ASN][1000 genomes]
rs2504039	0.95[ASN][1000 genomes]
rs2504040	0.95[ASN][1000 genomes]
rs2504041	0.95[ASN][1000 genomes]
rs2504042	0.95[ASN][1000 genomes]
rs2504043	0.81[ASN][1000 genomes]
rs2504048	0.81[CHB][hapmap];0.90[CHD][hapmap];0.81[ASN][1000 genomes]
rs2504049	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs2504053	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.98[ASN][1000 genomes]
rs3843267	0.81[JPT][hapmap]
rs3845381	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3845382	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3856045	0.95[ASN][1000 genomes]
rs3897919	0.81[JPT][hapmap]
rs3905117	0.81[JPT][hapmap]
rs3909014	0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3909015	0.95[ASN][1000 genomes]
rs4269737	0.86[ASN][1000 genomes]
rs4469684	0.95[ASN][1000 genomes]
rs4511077	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4651050	0.92[ASN][1000 genomes]
rs60556788	0.92[ASN][1000 genomes]
rs61828370	0.94[ASN][1000 genomes]
rs6663482	0.95[ASN][1000 genomes]
rs7365663	0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009961	chr1:179714247-179790110	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3845383	PAPPA2	cis	parietal	SCAN
rs3845383	TNR	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179727000-179727800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:179727600-179727800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:179727600-179728000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:179727800-179731400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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