Variant report

Variant	rs921720
Chromosome Location	chr8:126534671-126534672
allele	C/T
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	chr8:126532570-126534676	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr8:126533308-126534678	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:126532844..126534888-chr8:126555754..126558002,2	MCF-7	breast:
2	chr8:126531941..126534685-chr8:126537935..126540174,2	K562	blood:

Variant related genes	Relation type
ENSG00000253111	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10956252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1551397	0.88[CEU][hapmap];0.85[CHB][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1551398	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.98[GIH][hapmap];0.88[LWK][hapmap];0.87[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1551399	0.96[CEU][hapmap];0.85[CHB][hapmap]
rs1551400	0.88[CEU][hapmap];0.85[CHB][hapmap];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28510097	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4380956	0.80[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap]
rs4871611	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.98[GIH][hapmap];0.88[LWK][hapmap];0.83[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55867617	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7002027	0.90[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap]
rs7005585	0.85[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap]
rs7005992	0.89[CHB][hapmap];0.95[JPT][hapmap]
rs7818434	0.80[CHB][hapmap]
rs921721	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891437	chr8:126470817-126629328	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

Variant related diseases (count:2)

Disease	PMID	Source
Obesity-related traits	23251661	GWAS catalog
Inflammatory bowel disease	23128233	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs921720	KIAA0196	cis	cerebellum	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126525800-126538800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:126526000-126537400	Weak transcription	Fetal Lung	lung
3	chr8:126527000-126538200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:126527600-126537000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:126528000-126537200	Weak transcription	Psoas Muscle	Psoas
6	chr8:126528600-126537000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:126528600-126537000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:126529400-126537000	Weak transcription	Liver	Liver
9	chr8:126532000-126536200	Weak transcription	Hela-S3	cervix
10	chr8:126532000-126537000	Weak transcription	A549	lung
11	chr8:126532000-126537000	Weak transcription	NHEK	skin
12	chr8:126532200-126537000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:126533600-126534800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:126533600-126539000	Weak transcription	Esophagus	oesophagus
15	chr8:126534200-126534800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:126534200-126535400	Enhancers	Ovary	ovary
17	chr8:126534400-126534800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:126534400-126534800	Enhancers	Right Atrium	heart
19	chr8:126534400-126534800	Enhancers	Osteobl	bone
20	chr8:126534400-126535000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr8:126534400-126537000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:126534600-126534800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:126534600-126534800	Enhancers	Fetal Stomach	stomach
24	chr8:126534600-126535000	Enhancers	Adipose Nuclei	Adipose

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