Variant report

Variant	rs1415122
Chromosome Location	chr9:1760175-1760176
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10115900	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10120074	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10120767	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10738479	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10756854	0.80[ASN][1000 genomes]
rs10810734	0.80[ASN][1000 genomes]
rs10810794	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10810799	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10810807	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10810809	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10810814	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10810815	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10810825	0.85[ASN][1000 genomes]
rs10962880	0.80[ASN][1000 genomes]
rs10962888	0.80[ASN][1000 genomes]
rs10962894	0.80[ASN][1000 genomes]
rs10963124	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10963145	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10963156	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10963164	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10963188	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10963203	0.84[ASN][1000 genomes]
rs10963208	0.84[ASN][1000 genomes]
rs12344952	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12348380	0.81[ASN][1000 genomes]
rs12550866	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12552128	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12682830	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13288056	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13289666	0.81[ASN][1000 genomes]
rs1531522	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1817384	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1817385	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2077415	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28411348	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28595403	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34439728	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3852104	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3889068	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4014158	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4083723	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4302893	0.82[ASN][1000 genomes]
rs4304369	0.81[ASN][1000 genomes]
rs4304370	0.80[ASN][1000 genomes]
rs4410953	0.82[ASN][1000 genomes]
rs4740643	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4740647	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4741585	0.81[ASN][1000 genomes]
rs4741586	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4741599	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4741600	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4741603	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4741604	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58583714	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6475112	0.81[ASN][1000 genomes]
rs7023185	0.80[ASN][1000 genomes]
rs7023240	0.81[ASN][1000 genomes]
rs7026299	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7032946	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7043054	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7044554	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7847817	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7849487	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7864003	0.81[ASN][1000 genomes]
rs7870721	0.81[ASN][1000 genomes]
rs899125	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752273	chr9:1062218-1824888	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1016148	chr9:1457605-2361750	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv539916	chr9:1457605-2361750	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv892035	chr9:1556054-1823605	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1021712	chr9:1647840-2216839	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv539921	chr9:1647840-2216839	Bivalent Enhancer Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS 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 target site	14 gene(s)	inside rSNPs	diseases
7	nsv892042	chr9:1721385-1762597	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1030725	chr9:1723364-1760672	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv2764130	chr9:1723376-1778025	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1415122	KIAA1432	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1759200-1760400	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr9:1759200-1760400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr9:1759600-1760200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr9:1759800-1760400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr9:1759800-1760600	Flanking Active TSS	GM12878-XiMat	blood
6	chr9:1760000-1760200	Enhancers	Fetal Muscle Trunk	muscle
7	chr9:1760000-1760400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:1760000-1760600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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