Variant report

Variant	rs4596614
Chromosome Location	chr8:92228517-92228518
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	chr8:92224876..92227971-chr8:92228140..92231378,3	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10087552	0.81[CHD][hapmap]
rs10093786	0.81[CHD][hapmap];0.86[GIH][hapmap];0.84[ASN][1000 genomes]
rs10097502	0.81[CHD][hapmap]
rs10110267	0.83[GIH][hapmap]
rs10111323	0.81[CEU][hapmap]
rs10216413	0.95[CHB][hapmap]
rs10942	0.95[CHB][hapmap]
rs10956790	0.95[CHB][hapmap]
rs10956792	0.95[CHB][hapmap];0.88[GIH][hapmap]
rs10956794	0.85[CEU][hapmap];0.95[CHB][hapmap];0.90[GIH][hapmap];0.81[JPT][hapmap];0.82[LWK][hapmap];0.80[MKK][hapmap];0.93[TSI][hapmap]
rs10956795	0.91[CHB][hapmap];0.81[CHD][hapmap];0.81[JPT][hapmap]
rs11778758	0.85[CEU][hapmap];0.95[CHB][hapmap];0.90[GIH][hapmap];0.81[JPT][hapmap];0.82[LWK][hapmap];0.80[MKK][hapmap];0.93[TSI][hapmap]
rs11783034	0.85[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap]
rs11784415	0.82[GIH][hapmap];0.80[MEX][hapmap]
rs11785003	0.85[CEU][hapmap];0.95[CHB][hapmap];0.90[GIH][hapmap];0.81[JPT][hapmap];0.82[LWK][hapmap];0.86[MEX][hapmap];0.80[MKK][hapmap];0.93[TSI][hapmap]
rs12334996	0.95[CHB][hapmap]
rs12540975	0.85[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap]
rs12545986	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12546650	0.93[GIH][hapmap];0.93[TSI][hapmap]
rs12549426	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13252561	0.86[ASW][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];0.91[JPT][hapmap];0.83[LWK][hapmap];0.84[MKK][hapmap];0.82[TSI][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs13261830	0.86[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.82[TSI][hapmap];0.85[ASN][1000 genomes]
rs13265714	0.85[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs35066004	0.81[CEU][hapmap];0.95[CHB][hapmap];0.86[GIH][hapmap];0.82[TSI][hapmap]
rs3808378	0.95[CHB][hapmap];0.86[GIH][hapmap]
rs3885968	0.95[CHB][hapmap]
rs3885969	0.81[CEU][hapmap];0.95[CHB][hapmap];0.90[GIH][hapmap];0.84[TSI][hapmap]
rs3923174	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4128119	0.91[CHB][hapmap];0.84[CHD][hapmap];0.81[JPT][hapmap]
rs4129720	0.81[CEU][hapmap];0.95[CHB][hapmap];0.86[GIH][hapmap];0.82[TSI][hapmap]
rs4259383	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4339600	0.81[CHD][hapmap]
rs4373488	0.95[CHB][hapmap];0.86[GIH][hapmap]
rs4419777	0.82[CEU][hapmap];0.95[GIH][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap]
rs4476968	0.85[CHD][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs4493873	0.83[GIH][hapmap]
rs4501547	0.81[CHD][hapmap];0.86[JPT][hapmap]
rs4501548	0.95[CHB][hapmap];0.86[GIH][hapmap]
rs4501550	0.83[GIH][hapmap]
rs4501551	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4515507	0.81[CHD][hapmap];0.82[ASN][1000 genomes]
rs4524748	1.00[CHB][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4577919	0.85[CEU][hapmap];0.95[CHB][hapmap];0.90[GIH][hapmap];0.86[JPT][hapmap];0.82[LWK][hapmap];0.80[MKK][hapmap];0.93[TSI][hapmap]
rs4620242	0.85[CEU][hapmap];0.95[CHB][hapmap];0.90[GIH][hapmap];0.86[JPT][hapmap];0.82[LWK][hapmap];0.80[MKK][hapmap];0.93[TSI][hapmap]
rs5029071	0.81[AMR][1000 genomes]
rs55779688	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62526707	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62526730	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6471268	0.85[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.91[TSI][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6651265	0.81[ASN][1000 genomes]
rs6987417	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6987764	0.92[CEU][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6993713	0.91[CHB][hapmap]
rs7815938	0.85[GIH][hapmap]
rs7820904	0.95[CHB][hapmap];0.88[GIH][hapmap]
rs7832592	0.95[CHB][hapmap]
rs7832896	0.81[CHD][hapmap];0.86[GIH][hapmap];0.82[ASN][1000 genomes]
rs7845508	0.81[CHD][hapmap];0.86[GIH][hapmap]
rs8081	0.91[CHB][hapmap]
rs9643319	0.95[CHB][hapmap]
rs9918929	0.95[CHB][hapmap];0.86[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv2758623	chr8:91974499-92273724	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2759629	chr8:91974499-92273724	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv982091	chr8:92203990-92240482	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4596614	SLC26A7	cis	Adipose Subcutaneous	GTEx
rs4596614	RUNX1T1	cis	cerebellum	SCAN
rs4596614	TMEM67	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:92226400-92228600	Weak transcription	Fetal Heart	heart

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