Variant report

Variant	rs16869851
Chromosome Location	chr4:20690057-20690058
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 153 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10017693	1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs10022322	1.00[CHB][hapmap];0.87[CHD][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs10024002	1.00[CHB][hapmap];0.87[CHD][hapmap];0.89[ASN][1000 genomes]
rs10025286	0.89[ASN][1000 genomes]
rs10938801	1.00[CHB][hapmap];0.87[CHD][hapmap];0.89[JPT][hapmap];1.00[ASN][1000 genomes]
rs11932551	0.81[ASN][1000 genomes]
rs11941041	0.88[ASN][1000 genomes]
rs12331966	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs12640448	1.00[CHB][hapmap];0.83[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap]
rs12641186	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12644782	0.90[JPT][hapmap]
rs16869889	0.89[ASN][1000 genomes]
rs17551335	0.89[ASN][1000 genomes]
rs17621796	0.82[ASN][1000 genomes]
rs17622163	0.89[ASN][1000 genomes]
rs17622371	1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs1985322	0.88[JPT][hapmap]
rs2052775	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs2288308	1.00[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs2322688	0.90[JPT][hapmap]
rs28374411	0.86[ASN][1000 genomes]
rs28524474	0.89[ASN][1000 genomes]
rs28714128	0.83[ASN][1000 genomes]
rs28788006	0.89[ASN][1000 genomes]
rs3764964	0.81[CHB][hapmap];0.83[CHD][hapmap];0.90[JPT][hapmap]
rs3764965	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs3764966	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs3764967	0.90[CHB][hapmap];0.87[CHD][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs3796639	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3815872	0.89[ASN][1000 genomes]
rs4510461	0.89[ASN][1000 genomes]
rs55794413	1.00[ASN][1000 genomes]
rs55874299	1.00[ASN][1000 genomes]
rs56152829	1.00[ASN][1000 genomes]
rs56237079	0.82[ASN][1000 genomes]
rs57740160	0.83[ASN][1000 genomes]
rs59335491	0.89[ASN][1000 genomes]
rs61790748	0.85[ASN][1000 genomes]
rs62410065	0.89[ASN][1000 genomes]
rs62410092	0.91[ASN][1000 genomes]
rs62410099	1.00[ASN][1000 genomes]
rs62410126	0.89[ASN][1000 genomes]
rs62410129	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62410159	0.86[ASN][1000 genomes]
rs62411662	0.82[ASN][1000 genomes]
rs6447974	0.86[ASN][1000 genomes]
rs6447976	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs6811030	0.81[CHB][hapmap];0.83[CHD][hapmap];0.90[JPT][hapmap]
rs6811505	0.90[CHB][hapmap];0.88[JPT][hapmap]
rs6831516	0.85[CHB][hapmap]
rs725594	0.89[ASN][1000 genomes]
rs73240292	0.89[ASN][1000 genomes]
rs7438098	0.83[ASN][1000 genomes]
rs755155	0.91[ASN][1000 genomes]
rs7655154	1.00[CHB][hapmap];0.87[CHD][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs7666288	0.89[ASN][1000 genomes]
rs7674453	0.89[ASN][1000 genomes]
rs7681691	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7696618	0.89[ASN][1000 genomes]
rs990206	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs9995697	1.00[CHB][hapmap];0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013077	chr4:20599841-20732558	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1010145	chr4:20601908-21057992	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv537052	chr4:20601908-21057992	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1014941	chr4:20611726-21345226	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv537053	chr4:20611726-21345226	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv829876	chr4:20638736-20835621	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers 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 target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:153)

SNP	Gene	Cis/trans	Tissue	Source
rs16869851	SSU72	trans	brain	seeQTL
rs16869851	DAZL	trans	brain	seeQTL
rs16869851	MAMSTR	trans	brain	seeQTL
rs16869851	PRKAG3	trans	brain	seeQTL
rs16869851	LYZL4	trans	brain	seeQTL
rs16869851	CES5A	trans	brain	seeQTL
rs16869851	IL1F6	trans	brain	seeQTL
rs16869851	DAZ2	trans	brain	seeQTL
rs16869851	HRC	trans	brain	seeQTL
rs16869851	DUSP21	trans	brain	seeQTL
rs16869851	HLA-DQA2	trans	brain	seeQTL
rs16869851	CSNK2B	trans	brain	seeQTL
rs16869851	H2BFWT	trans	brain	seeQTL
rs16869851	COMMD2	trans	brain	seeQTL
rs16869851	ENAM	trans	brain	seeQTL
rs16869851	PKDREJ	trans	brain	seeQTL
rs16869851	IFNA5	trans	brain	seeQTL
rs16869851	OR1E2	trans	brain	seeQTL
rs16869851	AFP	trans	brain	seeQTL
rs16869851	MED6	trans	brain	seeQTL
rs16869851	FGD3	trans	brain	seeQTL
rs16869851	FFAR3	trans	brain	seeQTL
rs16869851	P2RX7	trans	brain	seeQTL
rs16869851	ELF4	trans	brain	seeQTL
rs16869851	CENPI	trans	brain	seeQTL
rs16869851	OR5K1	trans	brain	seeQTL
rs16869851	DCST2	trans	brain	seeQTL
rs16869851	PSEN1	trans	brain	seeQTL
rs16869851	TUBB4Q	trans	brain	seeQTL
rs16869851	C4orf17	trans	brain	seeQTL
rs16869851	SLC26A3	trans	brain	seeQTL
rs16869851	ITLN1	trans	brain	seeQTL
rs16869851	G6PC2	trans	brain	seeQTL
rs16869851	C20orf141	trans	brain	seeQTL
rs16869851	VPREB3	trans	brain	seeQTL
rs16869851	ZNF564	trans	brain	seeQTL
rs16869851	FAM75A7	trans	brain	seeQTL
rs16869851	COG8	trans	brain	seeQTL
rs16869851	CCDC67	trans	brain	seeQTL
rs16869851	TAC4	trans	brain	seeQTL
rs16869851	ALDH3B2	trans	brain	seeQTL
rs16869851	SFTPB	trans	brain	seeQTL
rs16869851	PRDM5	trans	brain	seeQTL
rs16869851	TMC1	trans	brain	seeQTL
rs16869851	CILP2	trans	brain	seeQTL
rs16869851	C3orf79	trans	brain	seeQTL
rs16869851	C4BPB	trans	brain	seeQTL
rs16869851	MBD5	trans	brain	seeQTL
rs16869851	SLC16A7	trans	brain	seeQTL
rs16869851	ZKSCAN3	trans	brain	seeQTL
rs16869851	OR10A5	trans	brain	seeQTL
rs16869851	FXYD2	trans	brain	seeQTL
rs16869851	TSGA10	trans	brain	seeQTL
rs16869851	PRSS48	trans	brain	seeQTL
rs16869851	RAB11B	trans	brain	seeQTL
rs16869851	WDR96	trans	brain	seeQTL
rs16869851	KLHDC7B	trans	brain	seeQTL
rs16869851	KLHL15	trans	brain	seeQTL
rs16869851	ADAM11	trans	brain	seeQTL
rs16869851	C15orf42	trans	brain	seeQTL
rs16869851	LRCH1	trans	brain	seeQTL
rs16869851	PATE1	trans	brain	seeQTL
rs16869851	ZBED4	trans	brain	seeQTL
rs16869851	ACTR8	trans	brain	seeQTL
rs16869851	SLC17A4	trans	brain	seeQTL
rs16869851	GON4L	trans	brain	seeQTL
rs16869851	CETP	trans	brain	seeQTL
rs16869851	TUBA8	trans	brain	seeQTL
rs16869851	C15orf63	trans	brain	seeQTL
rs16869851	ZFP112	trans	brain	seeQTL
rs16869851	RORA	trans	brain	seeQTL
rs16869851	EPB41L5	trans	brain	seeQTL
rs16869851	ZAP70	trans	brain	seeQTL
rs16869851	KBTBD8	trans	brain	seeQTL
rs16869851	RNASE11	trans	brain	seeQTL
rs16869851	LAG3	trans	brain	seeQTL
rs16869851	PLA2G2E	trans	brain	seeQTL
rs16869851	PSCA	trans	brain	seeQTL
rs16869851	CYP3A7	trans	brain	seeQTL
rs16869851	OPN1MW	trans	brain	seeQTL
rs16869851	DUSP10	trans	brain	seeQTL
rs16869851	LECT1	trans	brain	seeQTL
rs16869851	SLC6A2	trans	brain	seeQTL
rs16869851	DEPDC1	trans	brain	seeQTL
rs16869851	ADAMTS13	trans	brain	seeQTL
rs16869851	DOK7	trans	brain	seeQTL
rs16869851	WDFY3	trans	brain	seeQTL
rs16869851	HIST1H3B	trans	brain	seeQTL
rs16869851	GGA2	trans	brain	seeQTL
rs16869851	C12orf70	trans	brain	seeQTL
rs16869851	SPDYA	trans	brain	seeQTL
rs16869851	PRIMA1	trans	brain	seeQTL
rs16869851	PADI2	trans	brain	seeQTL
rs16869851	IFNA6	trans	brain	seeQTL
rs16869851	EML5	trans	brain	seeQTL
rs16869851	ZNF365	trans	brain	seeQTL
rs16869851	WNT4	trans	brain	seeQTL
rs16869851	F2R	trans	brain	seeQTL
rs16869851	SLC5A2	trans	brain	seeQTL
rs16869851	TRPM3	trans	brain	seeQTL
rs16869851	IGF2BP3	trans	brain	seeQTL
rs16869851	DGKE	trans	brain	seeQTL
rs16869851	PMAIP1	trans	brain	seeQTL
rs16869851	CDSN	trans	brain	seeQTL
rs16869851	FLJ37543	trans	brain	seeQTL
rs16869851	MESDC2	trans	brain	seeQTL
rs16869851	C10orf96	trans	brain	seeQTL
rs16869851	CAMK4	trans	brain	seeQTL
rs16869851	SERPINB11	trans	brain	seeQTL
rs16869851	SH3D20	trans	brain	seeQTL
rs16869851	PI15	trans	brain	seeQTL
rs16869851	KRTAP13-4	trans	brain	seeQTL
rs16869851	SLC6A14	trans	brain	seeQTL
rs16869851	IRAK4	trans	brain	seeQTL
rs16869851	ZBTB10	trans	brain	seeQTL
rs16869851	IFNG	trans	brain	seeQTL
rs16869851	HUS1B	trans	brain	seeQTL
rs16869851	TMEM182	trans	brain	seeQTL
rs16869851	KLHL4	trans	brain	seeQTL
rs16869851	PTPN7	trans	brain	seeQTL
rs16869851	RAB11FIP1	trans	brain	seeQTL
rs16869851	APCDD1L	trans	brain	seeQTL
rs16869851	ORAOV1	trans	brain	seeQTL
rs16869851	NEDD1	trans	brain	seeQTL
rs16869851	FOLH1	trans	brain	seeQTL
rs16869851	GRIP2	trans	brain	seeQTL
rs16869851	ADARB1	trans	brain	seeQTL
rs16869851	RCN3	trans	brain	seeQTL
rs16869851	LRR1	trans	brain	seeQTL
rs16869851	LOC284100	trans	brain	seeQTL
rs16869851	PRDM1	trans	brain	seeQTL
rs16869851	GABRR3	trans	brain	seeQTL
rs16869851	SH3RF3	trans	brain	seeQTL
rs16869851	ZSCAN10	trans	brain	seeQTL
rs16869851	SERPINE1	trans	brain	seeQTL
rs16869851	SLC36A1	trans	brain	seeQTL
rs16869851	MICALCL	trans	brain	seeQTL
rs16869851	VCY	trans	brain	seeQTL
rs16869851	E2F8	trans	brain	seeQTL
rs16869851	CCT8L2	trans	brain	seeQTL
rs16869851	FBXL8	trans	brain	seeQTL
rs16869851	PPP1R3B	trans	brain	seeQTL
rs16869851	ZNF614	trans	brain	seeQTL
rs16869851	GPR82	trans	brain	seeQTL
rs16869851	HIST1H2BA	trans	brain	seeQTL
rs16869851	PACRGL	cis	brain	seeQTL
rs16869851	RALGPS1	trans	cerebellum	SCAN
rs16869851	E2F1	trans	brain	seeQTL
rs16869851	OR51A7	trans	brain	seeQTL
rs16869851	FAM71D	trans	brain	seeQTL
rs16869851	SEC23A	trans	brain	seeQTL
rs16869851	CRISP3	trans	brain	seeQTL
rs16869851	RHOF	trans	brain	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20688800-20690600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:20689400-20690400	Enhancers	Osteobl	bone
3	chr4:20690000-20690400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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