Variant report

Variant	rs341801
Chromosome Location	chr8:50037784-50037785
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:50032130..50034951-chr8:50036647..50039869,3	K562	blood:
2	chr8:50036565..50039449-chr8:50040680..50044061,3	K562	blood:
3	chr8:50031366..50035096-chr8:50036647..50040169,3	K562	blood:
4	chr8:50029029..50031186-chr8:50035515..50038037,2	K562	blood:
5	chr8:50037357..50040620-chr8:50040803..50044061,4	K562	blood:
6	chr8:49957733..49959287-chr8:50036754..50039574,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10105794	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10435574	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10435612	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10504070	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10504072	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10808744	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10808745	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10957337	0.81[EUR][1000 genomes]
rs10957356	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10957357	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.85[MEX][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]
rs11785310	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11997959	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12156111	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12546839	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12548464	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12549138	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1511359	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1511365	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17644494	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2292399	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28685207	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs341802	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs341809	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs341813	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4348510	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4493917	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4493918	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4873092	0.92[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4873096	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4873098	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4873309	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4873312	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4873314	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4873317	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55920380	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55948643	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56057508	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57085792	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59064792	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60449482	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62507245	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62507246	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62507247	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62507251	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62507252	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62507253	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6472220	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6997703	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7817571	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7820270	0.92[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9298106	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9643394	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9643395	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]

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	nsv1025068	chr8:49953397-50370208	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1023325	chr8:49994793-50050571	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv1793350	chr8:50013702-50102628	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1034908	chr8:50023423-50416049	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv539601	chr8:50023423-50416049	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1024410	chr8:50037085-50511501	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs341801	EFCAB1	cis	parietal	SCAN
rs341801	EFCAB1	cis	cerebellum	SCAN
rs341801	SNTG1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50037600-50038000	Enhancers	K562	blood

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