Variant report

Variant	rs8118710
Chromosome Location	chr20:1456525-1456526
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr20:1456514-1457020	HL-60	blood:	n/a	n/a

Variant related genes	Relation type
NSFL1C	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12480584	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12481007	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12481707	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16994239	1.00[JPT][hapmap]
rs17793360	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1884390	1.00[JPT][hapmap]
rs1884393	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2064645	1.00[JPT][hapmap]
rs2064646	1.00[JPT][hapmap]
rs2273321	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2873522	1.00[JPT][hapmap]
rs3829697	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41275406	1.00[ASN][1000 genomes]
rs6033935	1.00[JPT][hapmap]
rs6074681	1.00[CHB][hapmap]
rs6105101	1.00[JPT][hapmap]
rs6109984	1.00[JPT][hapmap]
rs6109989	1.00[JPT][hapmap]
rs6110025	1.00[CHD][hapmap]
rs8123855	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs984497	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs984498	0.93[CEU][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522008	chr20:1340390-1638578	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv585206	chr20:1386473-1714362	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv1850632	chr20:1393861-1465597	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv833893	chr20:1414615-1527779	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8118710	PSMF1	cis	parietal	SCAN
rs8118710	SIRPA	cis	lymphoblastoid	seeQTL

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1448200-1457400	Weak transcription	Spleen	Spleen
2	chr20:1448200-1459000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr20:1450400-1459000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr20:1450400-1459000	Weak transcription	Lung	lung
5	chr20:1450800-1458200	Genic enhancers	Primary monocytes fromperipheralblood	blood
6	chr20:1451600-1459000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr20:1452000-1459000	Weak transcription	HUVEC	blood vessel
8	chr20:1452000-1459000	Weak transcription	NH-A	brain
9	chr20:1454200-1458000	Genic enhancers	Monocytes-CD14+_RO01746	blood
10	chr20:1454200-1458800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr20:1454200-1458800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr20:1454200-1460800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr20:1454400-1459000	Weak transcription	Osteobl	bone
14	chr20:1454400-1460400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr20:1454400-1460600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr20:1454400-1460600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr20:1454600-1458000	Enhancers	HMEC	breast
18	chr20:1454800-1459000	Weak transcription	A549	lung
19	chr20:1455200-1456600	Enhancers	NHEK	skin
20	chr20:1455600-1458000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr20:1455600-1458400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr20:1455600-1461600	Enhancers	Placenta	Placenta
23	chr20:1455800-1458000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr20:1456000-1459200	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr20:1456200-1456600	Weak transcription	Esophagus	oesophagus
26	chr20:1456200-1460400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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