Variant report

Variant	rs2199402
Chromosome Location	chr8:9201003-9201004
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 28 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10103533	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10106967	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12548096	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1381350	0.83[CHD][hapmap]
rs17149826	0.92[EUR][1000 genomes]
rs17149836	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2169384	0.83[CHD][hapmap]
rs2199401	0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2199403	0.80[AFR][1000 genomes]
rs28396619	0.94[ASN][1000 genomes]
rs28454442	0.95[EUR][1000 genomes]
rs28716850	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4841136	0.82[AFR][1000 genomes]
rs6980505	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6989535	0.83[CHD][hapmap]
rs7018002	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73185203	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73201625	0.97[EUR][1000 genomes]
rs9329192	0.84[CHB][hapmap];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv949434	chr8:8993551-9318404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv1018847	chr8:9017110-9216354	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1022967	chr8:9023771-9261351	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv539462	chr8:9023771-9261351	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv1030524	chr8:9183482-9412833	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv6073	chr8:9189800-9234741	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv890341	chr8:9192927-9243428	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:28)

SNP	Gene	Cis/trans	Tissue	Source
rs2199402	MGP	trans	brain	seeQTL
rs2199402	OMD	trans	brain	seeQTL
rs2199402	TNFRSF11B	trans	brain	seeQTL
rs2199402	CRABP1	trans	brain	seeQTL
rs2199402	OLFML2A	trans	brain	seeQTL
rs2199402	VIM	trans	brain	seeQTL
rs2199402	GMDS	trans	brain	seeQTL
rs2199402	GJB2	trans	brain	seeQTL
rs2199402	OGN	trans	brain	seeQTL
rs2199402	FRZB	trans	brain	seeQTL
rs2199402	SLPI	trans	brain	seeQTL
rs2199402	KLF4	trans	brain	seeQTL
rs2199402	DCN	trans	brain	seeQTL
rs2199402	SLC47A1	trans	brain	seeQTL
rs2199402	NOV	trans	brain	seeQTL
rs2199402	KIAA1199	trans	brain	seeQTL
rs2199402	FGL2	trans	brain	seeQTL
rs2199402	KLF2	trans	brain	seeQTL
rs2199402	TMEM30B	trans	brain	seeQTL
rs2199402	ANXA2	trans	brain	seeQTL
rs2199402	KCNMA1	trans	brain	seeQTL
rs2199402	ENPP6	trans	brain	seeQTL
rs2199402	PTGDS	trans	brain	seeQTL
rs2199402	BAMBI	trans	brain	seeQTL
rs2199402	SFRP2	trans	brain	seeQTL
rs2199402	BTG2	trans	brain	seeQTL
rs2199402	DUSP1	trans	brain	seeQTL
rs2199402	CYBRD1	trans	brain	seeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9195800-9204400	Weak transcription	Right Atrium	heart
2	chr8:9200200-9203800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:9200400-9211200	Weak transcription	Liver	Liver

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