Variant report

Variant	rs7823896
Chromosome Location	chr8:110217266-110217267
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs16879261	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16879277	1.00[ASN][1000 genomes]
rs16879288	1.00[ASN][1000 genomes]
rs16879296	0.88[ASN][1000 genomes]
rs16879302	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs16879319	0.88[ASN][1000 genomes]
rs1993593	1.00[ASN][1000 genomes]
rs4129683	1.00[CHD][hapmap]
rs4489305	0.94[ASN][1000 genomes]
rs58645331	1.00[ASN][1000 genomes]
rs59395166	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59606309	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59943608	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60785810	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61245151	1.00[ASN][1000 genomes]
rs61479312	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66514810	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66540106	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66582255	1.00[ASN][1000 genomes]
rs66595116	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66597282	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66850941	1.00[ASN][1000 genomes]
rs66894192	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66993652	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67013559	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67022633	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67131445	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67145203	1.00[ASN][1000 genomes]
rs67220317	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67285523	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67650612	1.00[ASN][1000 genomes]
rs67741834	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67743002	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67793872	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67919153	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67974558	0.94[ASN][1000 genomes]
rs68134891	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990184	0.97[ASN][1000 genomes]
rs6994530	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680756	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72682635	1.00[ASN][1000 genomes]
rs72682688	0.88[ASN][1000 genomes]
rs73303253	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73303256	1.00[ASN][1000 genomes]
rs73311376	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73311383	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73311385	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73311386	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73311387	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73311394	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73311400	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73313204	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817013	1.00[ASN][1000 genomes]
rs7829028	1.00[CHD][hapmap];0.83[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023204	chr8:110169573-110303085	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1031663	chr8:110177432-110303085	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv891272	chr8:110217266-110268104	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Myopia (pathological)	23049088	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110191400-110237400	Weak transcription	Left Ventricle	heart
2	chr8:110202000-110221400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:110204800-110230600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:110211200-110311600	Weak transcription	Right Ventricle	heart
5	chr8:110216800-110220800	Weak transcription	HSMM	muscle
6	chr8:110217200-110217400	Weak transcription	Psoas Muscle	Psoas

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