Variant report

Variant	rs768318
Chromosome Location	chr2:125425762-125425763
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11123056	1.00[YRI][hapmap]
rs11123058	1.00[JPT][hapmap]
rs11675141	1.00[YRI][hapmap]
rs11676952	1.00[YRI][hapmap]
rs11686120	1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11886998	1.00[CHD][hapmap]
rs11900585	0.84[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap]
rs12467127	0.89[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap]
rs12472624	1.00[JPT][hapmap]
rs12473828	0.81[AFR][1000 genomes]
rs12995183	1.00[YRI][hapmap]
rs1394146	1.00[YRI][hapmap]
rs1454133	1.00[YRI][hapmap]
rs1454135	0.84[CEU][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap]
rs1454136	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs1587788	1.00[YRI][hapmap]
rs1604806	1.00[YRI][hapmap]
rs17011610	1.00[CHD][hapmap]
rs17320899	1.00[JPT][hapmap]
rs17392176	1.00[CHD][hapmap]
rs17392807	1.00[YRI][hapmap]
rs17392884	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs1902004	1.00[YRI][hapmap]
rs2174251	0.87[CEU][hapmap]
rs2174252	0.86[CEU][hapmap]
rs2421094	0.84[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs2901333	0.84[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap]
rs34836625	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4848252	1.00[YRI][hapmap]
rs4848956	0.85[YRI][hapmap]
rs4848957	1.00[YRI][hapmap]
rs4848970	1.00[JPT][hapmap]
rs55858918	0.84[EUR][1000 genomes]
rs55960516	0.85[EUR][1000 genomes]
rs6541961	1.00[CHD][hapmap]
rs7600422	0.84[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs768319	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs924803	1.00[YRI][hapmap]
rs963190	1.00[YRI][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	nsv834359	chr2:125367872-125536022	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
2	nsv428727	chr2:125372897-125512949	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs768318	ERCC3	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:125424800-125425800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr2:125425000-125426000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:125425400-125426600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:125425600-125425800	Enhancers	HUES48 Cell Line	embryonic stem cell

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