Variant report

Variant	rs57280925
Chromosome Location	chr8:8835907-8835908
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8829651..8832164-chr8:8833894..8836352,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10091588	1.00[ASN][1000 genomes]
rs1036082	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11774244	1.00[ASN][1000 genomes]
rs11775788	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11779660	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11779804	1.00[ASN][1000 genomes]
rs11780338	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11780774	1.00[ASN][1000 genomes]
rs11781203	1.00[ASN][1000 genomes]
rs11784750	1.00[ASN][1000 genomes]
rs13250781	1.00[ASN][1000 genomes]
rs13277114	1.00[ASN][1000 genomes]
rs1530484	1.00[ASN][1000 genomes]
rs17646197	1.00[ASN][1000 genomes]
rs17700611	1.00[ASN][1000 genomes]
rs17701980	1.00[ASN][1000 genomes]
rs28510464	0.80[EUR][1000 genomes]
rs28520356	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28572014	1.00[ASN][1000 genomes]
rs34293316	1.00[ASN][1000 genomes]
rs4840376	1.00[ASN][1000 genomes]
rs4840391	1.00[ASN][1000 genomes]
rs4841073	0.83[EUR][1000 genomes]
rs55824072	1.00[ASN][1000 genomes]
rs56109025	1.00[ASN][1000 genomes]
rs56349323	1.00[ASN][1000 genomes]
rs56400435	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57719687	0.86[AFR][1000 genomes]
rs59041878	1.00[ASN][1000 genomes]
rs59257214	1.00[ASN][1000 genomes]
rs60551984	1.00[ASN][1000 genomes]
rs61397430	1.00[ASN][1000 genomes]
rs61730232	1.00[ASN][1000 genomes]
rs62492947	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62493174	1.00[ASN][1000 genomes]
rs62495491	1.00[ASN][1000 genomes]
rs62495539	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6981610	1.00[ASN][1000 genomes]
rs6981745	1.00[ASN][1000 genomes]
rs6982619	1.00[ASN][1000 genomes]
rs6987569	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6996374	1.00[ASN][1000 genomes]
rs6998594	0.88[EUR][1000 genomes]
rs7001187	1.00[ASN][1000 genomes]
rs73518330	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73518392	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7357482	1.00[ASN][1000 genomes]
rs73662247	1.00[ASN][1000 genomes]
rs7822129	1.00[ASN][1000 genomes]
rs7826478	1.00[ASN][1000 genomes]
rs7828944	1.00[ASN][1000 genomes]
rs7830266	1.00[ASN][1000 genomes]
rs7843024	1.00[ASN][1000 genomes]
rs7843154	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843369	1.00[ASN][1000 genomes]
rs7843789	1.00[ASN][1000 genomes]
rs7843864	0.83[EUR][1000 genomes]
rs7846007	1.00[ASN][1000 genomes]
rs895253	1.00[ASN][1000 genomes]
rs9329175	1.00[ASN][1000 genomes]
rs9329176	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1026913	chr8:8773659-8838256	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs57280925	THEX1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8811000-8836000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr8:8835000-8836600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:8835200-8837800	Weak transcription	Lung	lung
4	chr8:8835400-8836000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
5	chr8:8835400-8836600	ZNF genes & repeats	HepG2	liver
6	chr8:8835800-8836000	Enhancers	Liver	Liver
7	chr8:8835800-8836200	Weak transcription	Gastric	stomach

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