Variant report

No.	Distal block	Cell Line	Cell type
1	chr6:140148977..140151399-chr6:140177571..140180376,2	K562	blood:
2	chr6:139694861..139698914-chr6:140150026..140153198,5	K562	blood:
3	chr6:140140156..140142876-chr6:140150125..140152606,2	K562	blood:

Variant related genes	Relation type
ENSG00000164442	Chromatin interaction

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11965819	0.92[ASN][1000 genomes]
rs4568471	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4896488	0.92[ASN][1000 genomes]
rs60052799	0.92[ASN][1000 genomes]
rs6901783	0.83[ASN][1000 genomes]
rs6904036	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6911905	0.92[ASN][1000 genomes]
rs6926194	0.98[ASN][1000 genomes]
rs6933318	0.83[ASN][1000 genomes]
rs6933569	0.92[ASN][1000 genomes]
rs73775693	0.92[ASN][1000 genomes]
rs7772473	0.92[ASN][1000 genomes]
rs7772713	0.89[ASN][1000 genomes]
rs7776193	0.90[ASN][1000 genomes]
rs9376463	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9376464	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9376466	0.98[ASN][1000 genomes]
rs9385879	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9389723	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9399293	0.91[ASN][1000 genomes]
rs9403124	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9403125	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[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	nsv869066	chr6:139777114-140639695	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv830820	chr6:140059279-140255292	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	nsv1017015	chr6:140084137-140300565	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1019407	chr6:140087307-140304334	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1022881	chr6:140098646-140172570	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	nsv886692	chr6:140111650-140155090	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17069373	MAP3K5	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140142200-140160800	Weak transcription	Aorta	Aorta
2	chr6:140149800-140150600	Enhancers	K562	blood
3	chr6:140150000-140150400	Enhancers	Left Ventricle	heart
4	chr6:140150200-140150400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:140150200-140150600	Enhancers	Brain Germinal Matrix	brain
6	chr6:140150200-140150800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:140150200-140151000	Enhancers	Adipose Nuclei	Adipose
8	chr6:140150200-140151200	Weak transcription	Fetal Kidney	kidney

Quick Search: