Variant report

Variant	rs703041
Chromosome Location	chr10:29225776-29225777
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11007321	1.00[ASN][1000 genomes]
rs1578618	0.80[ASN][1000 genomes]
rs1624345	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1691910	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1691915	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1691917	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1691928	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1832844	1.00[ASN][1000 genomes]
rs1908573	1.00[ASN][1000 genomes]
rs2132322	0.91[ASN][1000 genomes]
rs2132323	0.95[ASN][1000 genomes]
rs2453618	0.91[ASN][1000 genomes]
rs3947425	1.00[ASN][1000 genomes]
rs4749368	1.00[ASN][1000 genomes]
rs4749369	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs787355	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs788066	1.00[JPT][hapmap]
rs7894551	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs805198	0.82[ASN][1000 genomes]
rs813111	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs970257	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[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	nsv1041555	chr10:28419399-29304934	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1037863	chr10:28419399-29378871	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv540521	chr10:28419399-29378871	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv1043820	chr10:29172894-29259450	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1040780	chr10:29172894-29260154	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs703041	ABI1	cis	cerebellum	SCAN
rs703041	WAC	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:29222200-29228200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:29224200-29225800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr10:29224600-29226200	Weak transcription	HepG2	liver
4	chr10:29224600-29226600	Weak transcription	Fetal Lung	lung
5	chr10:29224600-29228200	Weak transcription	Right Atrium	heart
6	chr10:29224800-29228200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr10:29225600-29227400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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