Variant report

Variant	rs596423
Chromosome Location	chr11:84734312-84734313
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10501585	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11600088	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs11600301	0.83[ASW][hapmap]
rs11605620	0.92[ASW][hapmap];0.93[CEU][hapmap];0.93[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap]
rs11607636	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap]
rs11607740	0.93[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs17207058	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1783749	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs180954	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.87[MEX][hapmap];0.85[MKK][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs349059	0.92[CEU][hapmap];0.93[CHB][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs349061	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs349063	0.85[JPT][hapmap]
rs349064	0.92[CEU][hapmap];0.87[CHB][hapmap];0.90[YRI][hapmap];0.89[AMR][1000 genomes]
rs349067	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs349077	0.85[CEU][hapmap];0.83[GIH][hapmap]
rs349079	0.85[CEU][hapmap];0.83[GIH][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes]
rs472375	1.00[ASW][hapmap];0.86[CEU][hapmap];0.87[CHB][hapmap];0.83[CHD][hapmap];0.91[GIH][hapmap];0.89[LWK][hapmap];0.96[MKK][hapmap];0.87[YRI][hapmap]
rs472406	0.85[CEU][hapmap];0.87[CHB][hapmap];0.81[CHD][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.91[AMR][1000 genomes]
rs483220	0.93[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap]
rs494517	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs509179	0.85[CEU][hapmap];0.87[CHB][hapmap];0.82[AMR][1000 genomes]
rs570423	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs573963	0.87[CHB][hapmap];0.86[GIH][hapmap]
rs576449	0.93[CEU][hapmap];0.87[CHB][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs582652	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs597604	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs612389	0.86[CEU][hapmap];0.87[CHB][hapmap];0.91[GIH][hapmap]
rs613972	0.81[JPT][hapmap]
rs623403	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs624493	0.86[CEU][hapmap];0.87[CHB][hapmap];0.97[GIH][hapmap];0.94[LWK][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];0.95[YRI][hapmap]
rs637930	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs651536	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs659414	0.93[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap]
rs660451	0.85[CEU][hapmap];0.83[GIH][hapmap]
rs660860	0.86[CEU][hapmap];0.87[CHB][hapmap];0.90[YRI][hapmap]
rs664417	0.85[CEU][hapmap];0.87[CHB][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes]
rs678796	0.86[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948410	chr11:83918339-84812001	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1048051	chr11:84419442-84784233	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv541109	chr11:84419442-84784233	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv430415	chr11:84661652-84833852	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1055097	chr11:84672444-84810441	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1040393	chr11:84708402-84866594	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv555629	chr11:84720020-84744926	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv527535	chr11:84724795-84895033	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv528491	chr11:84724795-84895033	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs596423	FAM181B	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:84731800-84735400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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