Variant report

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10040235	0.89[ASN][1000 genomes]
rs10519387	0.92[ASN][1000 genomes]
rs11745974	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs12187240	0.81[JPT][hapmap]
rs12516617	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs13188074	0.85[CHB][hapmap]
rs13357700	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs1364934	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs1380477	0.89[CHB][hapmap]
rs1380478	0.84[JPT][hapmap]
rs1459780	0.90[CHB][hapmap];0.84[JPT][hapmap]
rs1459781	0.90[CHB][hapmap];0.84[JPT][hapmap]
rs17136627	0.82[YRI][hapmap]
rs17136633	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1993657	0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs28592267	0.90[ASN][1000 genomes]
rs2900085	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4435855	0.90[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs4705505	0.95[CHB][hapmap];0.80[CHD][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs56332148	0.80[ASN][1000 genomes]
rs6884289	0.89[CHB][hapmap];0.89[JPT][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	nsv830451	chr5:113684301-113829833	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv882729	chr5:113743628-114497708	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv830452	chr5:113798617-113975228	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12516818	STARD4	cis	parietal	SCAN
rs12516818	MCC	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:113793600-113812800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr5:113793800-113812800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr5:113794200-113808600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr5:113794200-113813400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:113797000-113809800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:113797400-113801000	Weak transcription	Brain Anterior Caudate	brain
7	chr5:113797600-113801800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:113798200-113800400	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:113798600-113801000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:113798800-113800400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr5:113799400-113799800	Strong transcription	H9 Cell Line	embryonic stem cell
12	chr5:113799400-113800200	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr5:113799400-113800400	Strong transcription	Liver	Liver

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