Variant report

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11082567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1347341	0.82[LWK][hapmap];0.90[YRI][hapmap]
rs1512235	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1512236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1512238	0.81[EUR][1000 genomes]
rs16954999	0.80[CEU][hapmap]
rs2289133	0.80[CEU][hapmap]
rs2317324	0.80[CEU][hapmap]
rs2571004	0.80[CEU][hapmap]
rs2571005	0.80[CEU][hapmap]
rs2571006	0.80[CEU][hapmap]
rs2576052	0.80[CEU][hapmap]
rs2668758	0.80[CEU][hapmap]
rs2668761	0.80[CEU][hapmap]
rs2668764	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2668767	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2668768	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2668770	0.85[ASN][1000 genomes]
rs2668771	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2668777	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2684819	0.80[CEU][hapmap]
rs2684832	0.90[YRI][hapmap]
rs2684833	0.80[CEU][hapmap]
rs2684853	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8085634	0.80[CEU][hapmap]
rs8091902	0.82[AMR][1000 genomes]
rs938134	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9961383	0.80[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv828226	chr18:44762014-44801196	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv1793532	chr18:44767785-44775293	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	inside rSNPs	diseases
3	esv1850086	chr18:44770317-44774906	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	inside rSNPs	diseases
4	esv1817234	chr18:44770317-44775573	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
5	esv1822582	chr18:44770317-44775573	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2668772	MED13L	trans	cerebellum	SCAN
rs2668772	SLC14A1	cis	parietal	SCAN
rs2668772	HDHD2	cis	Muscle Skeletal	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44763400-44772400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr18:44769200-44771200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr18:44769200-44772800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
4	chr18:44769800-44772600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
5	chr18:44770400-44772600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
6	chr18:44770600-44770800	Enhancers	H9 Cell Line	embryonic stem cell
7	chr18:44770600-44770800	Bivalent Enhancer	Brain Germinal Matrix	brain
8	chr18:44770600-44770800	Bivalent Enhancer	Fetal Brain Female	brain
9	chr18:44770600-44771400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
10	chr18:44770600-44772400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
11	chr18:44770600-44772600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell

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