Variant report

Variant	rs4699680
Chromosome Location	chr4:99759132-99759133
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99757583..99759723-chr4:99781646..99784129,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10516438	0.80[JPT][hapmap]
rs11097635	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11097636	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1160489	0.96[ASN][1000 genomes]
rs12331010	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12507214	0.80[JPT][hapmap]
rs12641639	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12649579	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12651447	0.80[JPT][hapmap]
rs13114194	0.89[ASN][1000 genomes]
rs1373244	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1373245	0.89[EUR][1000 genomes]
rs1443807	1.00[CHB][hapmap];0.98[CHD][hapmap];0.90[JPT][hapmap];0.98[ASN][1000 genomes]
rs1596416	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17028113	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.86[EUR][1000 genomes]
rs1838229	0.89[ASN][1000 genomes]
rs1838231	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1867343	0.89[EUR][1000 genomes]
rs1918739	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1918740	0.85[ASN][1000 genomes]
rs1918741	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2028686	0.80[JPT][hapmap]
rs2178126	1.00[AFR][1000 genomes]
rs28575435	0.89[ASN][1000 genomes]
rs34067149	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34200603	1.00[AFR][1000 genomes]
rs34417635	1.00[AFR][1000 genomes]
rs34700224	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35197129	0.89[EUR][1000 genomes]
rs35408186	0.89[ASN][1000 genomes]
rs35680032	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36141320	0.82[ASN][1000 genomes]
rs56031708	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62323694	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62323700	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6532769	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.94[ASN][1000 genomes]
rs6835829	0.89[EUR][1000 genomes]
rs6836719	0.89[EUR][1000 genomes]
rs6839230	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs6843891	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72692608	0.86[ASN][1000 genomes]
rs72692611	0.84[ASN][1000 genomes]
rs7654109	0.80[JPT][hapmap]
rs7656445	0.89[ASN][1000 genomes]
rs7664592	0.89[ASN][1000 genomes]
rs7677046	0.94[ASN][1000 genomes]
rs7696219	0.88[ASN][1000 genomes]
rs961757	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv879654	chr4:99748988-99877402	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4699680	PIP4K2B	trans	brain	seeQTL
rs4699680	RNASE6	trans	brain	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99756600-99760600	Weak transcription	Right Atrium	heart
2	chr4:99757600-99760400	Weak transcription	HMEC	breast
3	chr4:99758400-99759200	Enhancers	Fetal Heart	heart

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