Variant report

Variant	rs263640
Chromosome Location	chr9:17019121-17019122
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12684159	0.94[EUR][1000 genomes]
rs12685003	0.82[EUR][1000 genomes]
rs1487504	0.83[AMR][1000 genomes]
rs1487505	0.83[AMR][1000 genomes]
rs2481550	0.85[AMR][1000 genomes]
rs263637	0.81[AFR][1000 genomes]
rs263654	0.88[AMR][1000 genomes]
rs374399	0.86[AFR][1000 genomes]
rs3762426	0.89[EUR][1000 genomes]
rs55814049	0.89[EUR][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	nsv1024799	chr9:16631890-17431827	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv2764141	chr9:16903446-17351711	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv613692	chr9:16963863-17070633	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv892656	chr9:17008137-17076367	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv892657	chr9:17008137-17223492	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs263640	KIAA1797	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17016600-17020400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr9:17017800-17019400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr9:17018000-17019400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr9:17018000-17019800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr9:17018200-17019200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr9:17018200-17019200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr9:17018200-17019200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr9:17018200-17019200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr9:17018200-17019800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr9:17018400-17019200	Enhancers	NH-A	brain
11	chr9:17018400-17019200	Enhancers	NHLF	lung
12	chr9:17018400-17019400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr9:17018400-17019400	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr9:17018400-17019600	Enhancers	NHEK	skin
15	chr9:17018400-17021200	Weak transcription	Fetal Thymus	thymus
16	chr9:17018600-17019200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr9:17018600-17019400	Enhancers	Osteobl	bone
18	chr9:17018800-17019200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr9:17018800-17019200	Enhancers	Psoas Muscle	Psoas
20	chr9:17019000-17019400	Enhancers	Muscle Satellite Cultured Cells	--

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