Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9903435..9909004-chr8:9909616..9914452,5	K562	blood:
2	chr8:9902844..9907723-chr8:9908592..9913674,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175806	Chromatin interaction
ENSG00000260093	Chromatin interaction

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11780122	1.00[ASN][1000 genomes]
rs11786541	1.00[ASN][1000 genomes]
rs12678938	1.00[ASN][1000 genomes]
rs13250399	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13252276	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13276420	1.00[ASN][1000 genomes]
rs13282752	1.00[ASN][1000 genomes]
rs1521198	1.00[ASN][1000 genomes]
rs17150816	1.00[ASN][1000 genomes]
rs1976071	1.00[ASN][1000 genomes]
rs34376851	1.00[ASN][1000 genomes]
rs35013996	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35114037	1.00[ASN][1000 genomes]
rs35437983	1.00[ASN][1000 genomes]
rs4526366	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56279061	1.00[ASN][1000 genomes]
rs56408109	1.00[ASN][1000 genomes]
rs60121567	1.00[ASN][1000 genomes]
rs6601404	1.00[ASN][1000 genomes]
rs66536005	1.00[ASN][1000 genomes]
rs73189109	1.00[ASN][1000 genomes]
rs73189192	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73189202	1.00[ASN][1000 genomes]
rs7831285	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	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv916493	chr8:9806580-10029482	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv869934	chr8:9806639-9940586	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv890343	chr8:9888729-9932797	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13272731	BLK	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9899800-9910600	Weak transcription	Brain Germinal Matrix	brain
2	chr8:9902600-9911000	Weak transcription	Gastric	stomach
3	chr8:9904600-9907200	Weak transcription	Fetal Intestine Small	intestine
4	chr8:9904800-9907000	Weak transcription	Fetal Intestine Large	intestine
5	chr8:9905400-9907600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr8:9905600-9910800	Weak transcription	HepG2	liver
7	chr8:9905800-9911000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:9906200-9911200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:9906400-9909800	Weak transcription	Fetal Brain Male	brain
10	chr8:9906400-9910600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:9906400-9910800	Weak transcription	Fetal Brain Female	brain
12	chr8:9906400-9911000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:9906600-9910600	Weak transcription	Liver	Liver
14	chr8:9906600-9911000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:9906800-9907000	Enhancers	Brain Hippocampus Middle	brain

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