Variant report

Variant	rs7836513
Chromosome Location	chr8:69613880-69613881
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:69613839..69616553-chr8:101599445..101601057,2	MCF-7	breast:
2	chr8:69592607..69595138-chr8:69612214..69613989,2	MCF-7	breast:
3	chr8:69609765..69614722-chr8:69616148..69622047,8	MCF-7	breast:
4	chr8:69613534..69615435-chr8:69763553..69766064,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254337	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10101569	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10113102	0.97[ASN][1000 genomes]
rs10957442	0.88[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap];0.92[MEX][hapmap]
rs10957444	0.91[JPT][hapmap]
rs10957445	0.97[ASN][1000 genomes]
rs1116986	0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs11781537	0.82[CHD][hapmap];0.91[JPT][hapmap]
rs11781575	0.82[CHB][hapmap];0.82[CHD][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs12543018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12675138	0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs12681467	0.91[JPT][hapmap]
rs13254893	0.97[ASN][1000 genomes]
rs13255506	0.97[ASN][1000 genomes]
rs13262989	0.87[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs13263978	0.86[JPT][hapmap]
rs13267479	0.87[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs13278185	0.96[ASN][1000 genomes]
rs1434935	0.91[JPT][hapmap]
rs1434936	0.94[JPT][hapmap]
rs1434937	0.82[CHD][hapmap];0.91[JPT][hapmap]
rs1434938	0.82[CHD][hapmap];0.91[JPT][hapmap]
rs16919105	0.82[CHD][hapmap];0.91[JPT][hapmap]
rs1865443	0.88[CEU][hapmap];0.81[JPT][hapmap];0.92[MEX][hapmap]
rs1897906	0.88[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap]
rs2082723	0.82[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs2890437	0.83[JPT][hapmap]
rs6472417	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs6651315	0.87[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6982315	0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs6982710	0.88[CEU][hapmap];0.83[JPT][hapmap];0.92[MEX][hapmap]
rs7016101	0.87[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs766871	0.81[CHB][hapmap];0.82[CHD][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs7812470	0.80[ASN][1000 genomes]
rs7835401	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs959451	0.91[JPT][hapmap]
rs9643596	0.87[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948687	chr8:69041121-69642540	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv831349	chr8:69555461-69733515	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7836513	C8orf44	cis	parietal	SCAN
rs7836513	NCOA2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69611800-69622400	Weak transcription	Aorta	Aorta
2	chr8:69612200-69615600	Weak transcription	HMEC	breast
3	chr8:69612400-69615600	Weak transcription	Hela-S3	cervix
4	chr8:69612800-69616000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr8:69613000-69615600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:69613000-69618200	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:69613000-69621000	Weak transcription	Placenta Amnion	Placenta Amnion

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