Variant report

Variant	rs10788818
Chromosome Location	chr1:151892199-151892200
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151885641..151887671-chr1:151889557..151892276,2	K562	blood:
2	chr1:151890687..151893442-chr1:151973018..151975930,2	MCF-7	breast:
3	chr1:151880051..151885155-chr1:151889040..151897172,18	K562	blood:

Variant related genes	Relation type
ENSG00000159445	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1038747	0.83[ASN][1000 genomes]
rs1060870	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10788817	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10788820	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10888445	0.81[EUR][1000 genomes]
rs11204914	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11204915	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11589720	0.86[ASN][1000 genomes]
rs12067594	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12116923	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12562586	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13320	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1387833	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1490189	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1907040	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2130525	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2279501	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2279502	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2338201	0.91[AMR][1000 genomes]
rs2338209	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2932565	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2932576	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2932577	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2932579	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2932581	0.85[ASN][1000 genomes]
rs2932583	0.88[ASN][1000 genomes]
rs2932586	0.88[ASN][1000 genomes]
rs2999506	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2999508	0.85[ASN][1000 genomes]
rs2999512	0.85[ASN][1000 genomes]
rs2999541	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2999542	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2999544	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2999545	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2999546	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3007670	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3007685	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3007691	0.88[ASN][1000 genomes]
rs3007711	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4845409	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4845713	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6685187	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6698740	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7523082	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7541453	0.82[AMR][1000 genomes]
rs7542137	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9435963	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9435964	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9943281	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv547852	chr1:151843044-151955230	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv872441	chr1:151850072-152034430	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	191 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10788818	S100A10	Cis_1M	lymphoblastoid	RTeQTL
rs10788818	THEM4	Cis_1M	lymphoblastoid	RTeQTL
rs10788818	THEM4	cis	Nerve Tibial	GTEx
rs10788818	THEM4	cis	Esophagus Muscularis	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151883200-151892200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr1:151889400-151892200	Weak transcription	K562	blood
3	chr1:151889600-151892600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:151891200-151892800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:151891200-151892800	Enhancers	Hela-S3	cervix
6	chr1:151891600-151892400	Enhancers	GM12878-XiMat	blood
7	chr1:151891600-151894400	Enhancers	Primary hematopoietic stem cells	blood
8	chr1:151891600-151894600	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr1:151891800-151892800	Enhancers	HepG2	liver
10	chr1:151891800-151895000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr1:151891800-151895200	Enhancers	Primary B cells from peripheral blood	blood

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