Variant report

Variant	rs2988723
Chromosome Location	chr1:160953668-160953669
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	chr1:160952049..160953710-chr1:160957202..160960136,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12723902	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12743772	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2243479	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2246139	0.81[ASN][1000 genomes]
rs2246593	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2246598	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2249532	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2250288	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2265241	0.81[ASN][1000 genomes]
rs2265329	0.81[ASN][1000 genomes]
rs2265330	0.80[ASN][1000 genomes]
rs2369977	0.81[ASN][1000 genomes]
rs2481072	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2483143	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2483144	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2483148	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28365978	0.87[ASN][1000 genomes]
rs2990700	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2990701	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2990704	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2990705	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3007156	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3007157	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4656975	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6427562	0.81[ASN][1000 genomes]
rs7524408	0.81[ASN][1000 genomes]
rs7530765	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7546890	0.87[ASN][1000 genomes]
rs9427367	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][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	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv548058	chr1:160925455-160989614	Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv3330614	chr1:160953378-160955501	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2988723	F11R	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160943200-160959800	Weak transcription	Pancreas	Pancrea
2	chr1:160948600-160968000	Weak transcription	Ovary	ovary
3	chr1:160952200-160953800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:160952200-160956400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:160952200-160964400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:160952200-160967000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:160952400-160954000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr1:160952400-160954000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr1:160952400-160956400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:160952400-160957200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:160953000-160953800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr1:160953200-160966600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:160953600-160955600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:160953600-160955800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:160953600-160956200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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