Variant report

Variant	rs6998594
Chromosome Location	chr8:8848993-8848994
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:8848435..8850169-chr8:8864195..8867321,3	K562	blood:
2	chr8:8846981..8849867-chr8:8855018..8857394,2	K562	blood:
3	chr8:8630359..8632288-chr8:8847032..8849956,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10087416	1.00[CHB][hapmap]
rs10091588	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1036082	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11775788	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11779660	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs11780338	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11781203	0.92[CEU][hapmap];0.91[MEX][hapmap];0.86[EUR][1000 genomes]
rs1530484	0.84[CEU][hapmap];0.91[MEX][hapmap]
rs17701980	0.92[CEU][hapmap];0.91[MEX][hapmap];0.87[EUR][1000 genomes]
rs28510464	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28520356	0.89[EUR][1000 genomes]
rs4841073	0.80[CEU][hapmap]
rs56349323	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56400435	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57280925	0.88[EUR][1000 genomes]
rs59257214	0.84[EUR][1000 genomes]
rs62492947	0.87[EUR][1000 genomes]
rs62495491	0.89[EUR][1000 genomes]
rs62495539	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6982619	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6987569	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73518330	0.88[EUR][1000 genomes]
rs73518392	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7822129	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7826478	0.88[CEU][hapmap];0.91[MEX][hapmap];0.80[MKK][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7828944	0.82[AMR][1000 genomes]
rs7830266	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs7843154	0.88[EUR][1000 genomes]
rs7843864	0.80[CEU][hapmap]
rs7846007	0.92[CEU][hapmap];0.91[MEX][hapmap];0.80[MKK][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9329176	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9987276	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.88[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	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv610205	chr8:8799111-8891644	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6998594	CLDN23	cis	multi-tissue	Pritchard
rs6998594	MFHAS1	cis	cerebellum	SCAN
rs6998594	CTSB	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8846600-8859800	Weak transcription	Brain Anterior Caudate	brain
2	chr8:8847000-8852000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:8848600-8849000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:8848600-8852000	Weak transcription	Fetal Intestine Large	intestine
5	chr8:8848600-8852600	Weak transcription	HepG2	liver
6	chr8:8848800-8852400	Weak transcription	Liver	Liver

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