Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:14321065..14323447-chr9:14438488..14440481,2	K562	blood:

Variant related genes	Relation type
ENSG00000147862	Chromatin interaction

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11788056	1.00[ASN][1000 genomes]
rs11789657	1.00[CHB][hapmap]
rs11790649	1.00[ASN][1000 genomes]
rs11790783	0.87[EUR][1000 genomes]
rs11792598	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11794641	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1323340	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16931893	1.00[ASN][1000 genomes]
rs55769910	0.87[EUR][1000 genomes]
rs56237396	1.00[ASN][1000 genomes]
rs57866508	1.00[ASN][1000 genomes]
rs7020007	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs72700551	1.00[ASN][1000 genomes]
rs72700579	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700586	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700590	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72702930	1.00[ASN][1000 genomes]
rs72702932	1.00[ASN][1000 genomes]
rs72702938	1.00[ASN][1000 genomes]
rs72702939	1.00[ASN][1000 genomes]
rs72702940	1.00[ASN][1000 genomes]
rs72702941	1.00[ASN][1000 genomes]
rs72702954	1.00[ASN][1000 genomes]
rs72702957	1.00[ASN][1000 genomes]
rs72702961	1.00[ASN][1000 genomes]
rs72702962	1.00[ASN][1000 genomes]
rs963338	1.00[ASN][1000 genomes]
rs979897	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv915804	chr9:14182608-14903050	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv916811	chr9:14210978-14542068	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv892600	chr9:14370172-14469146	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14436400-14447200	Weak transcription	Right Atrium	heart
2	chr9:14436600-14439800	Weak transcription	Right Ventricle	heart
3	chr9:14437000-14439400	Enhancers	Brain Germinal Matrix	brain
4	chr9:14437000-14439600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:14437400-14439200	Enhancers	Fetal Stomach	stomach
6	chr9:14437600-14439800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr9:14438200-14439600	Enhancers	Fetal Brain Female	brain
8	chr9:14438200-14440000	Weak transcription	Left Ventricle	heart
9	chr9:14438200-14441800	Weak transcription	K562	blood
10	chr9:14438400-14439800	Weak transcription	Fetal Heart	heart
11	chr9:14439000-14439400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr9:14439000-14441200	Weak transcription	Fetal Brain Male	brain

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