Variant report

Variant	rs2409694
Chromosome Location	chr8:10946861-10946862
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10105315	1.00[CHB][hapmap]
rs10108304	1.00[CHD][hapmap]
rs10108618	1.00[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[ASN][1000 genomes]
rs10113808	1.00[CHB][hapmap]
rs11773990	1.00[CHB][hapmap]
rs11777887	1.00[CHB][hapmap]
rs11777918	1.00[CHB][hapmap]
rs11778398	1.00[CHB][hapmap]
rs11986748	1.00[CHD][hapmap]
rs11991118	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.81[MEX][hapmap]
rs11991121	1.00[CHD][hapmap]
rs11991716	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17724226	1.00[CHB][hapmap]
rs17780806	1.00[CHB][hapmap]
rs2001433	1.00[CHB][hapmap]
rs2409689	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.81[MEX][hapmap]
rs2409691	0.83[ASW][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.85[ASN][1000 genomes]
rs2409692	1.00[CHB][hapmap]
rs2409713	0.88[CEU][hapmap]
rs2409714	0.85[CEU][hapmap]
rs2409715	0.85[CEU][hapmap]
rs2409716	0.81[CEU][hapmap]
rs2409720	1.00[CHB][hapmap]
rs28719598	0.85[ASN][1000 genomes]
rs28722721	1.00[ASN][1000 genomes]
rs2898257	1.00[CHB][hapmap]
rs2898260	1.00[CHB][hapmap]
rs4840542	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4840549	0.88[CEU][hapmap]
rs4840551	1.00[CHB][hapmap]
rs4841489	1.00[CHB][hapmap]
rs4841490	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4841501	0.81[CEU][hapmap]
rs6601559	1.00[ASN][1000 genomes]
rs6601560	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6601562	1.00[CHB][hapmap]
rs6980856	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.81[MEX][hapmap]
rs6982381	1.00[ASN][1000 genomes]
rs6991930	1.00[CHB][hapmap]
rs7812573	0.85[ASN][1000 genomes]
rs7820860	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7823349	0.88[CEU][hapmap]
rs7825690	1.00[CHB][hapmap]
rs7829396	0.88[CEU][hapmap]
rs7835318	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9657519	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv1815171	chr8:10940039-11128712	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1025426	chr8:10942929-11037903	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2409694	MFHAS1	cis	cerebellum	SCAN
rs2409694	PRSS55	cis	cerebellum	SCAN
rs2409694	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs2409694	TDH	cis	cerebellum	SCAN
rs2409694	CTSB	cis	cerebellum	SCAN
rs2409694	DEFB134	cis	cerebellum	SCAN
rs2409694	FLJ10661	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10943000-10948400	Weak transcription	Gastric	stomach

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