Variant report

No.	Distal block	Cell Line	Cell type
1	chr5:40812798..40819830-chr5:40821906..40830676,11	MCF-7	breast:
2	chr5:40816237..40819777-chr5:40833085..40836718,5	MCF-7	breast:
3	chr5:40796112..40799022-chr5:40816719..40818510,2	MCF-7	breast:
4	chr5:40816639..40819938-chr5:40825309..40828911,4	MCF-7	breast:
5	chr5:40815974..40818536-chr5:40833401..40836504,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145592	Chromatin interaction
ENSG00000132356	Chromatin interaction

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1070446	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1097546	0.80[ASN][1000 genomes]
rs154268	0.80[ASN][1000 genomes]
rs154275	0.80[ASN][1000 genomes]
rs154280	0.80[ASN][1000 genomes]
rs154284	0.80[ASN][1000 genomes]
rs171605	0.80[ASN][1000 genomes]
rs173620	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs192219	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2161521	0.80[ASN][1000 genomes]
rs249422	0.80[ASN][1000 genomes]
rs249423	0.80[ASN][1000 genomes]
rs249425	0.80[ASN][1000 genomes]
rs249428	0.80[ASN][1000 genomes]
rs249429	0.80[ASN][1000 genomes]
rs249437	0.98[ASN][1000 genomes]
rs29740	0.80[ASN][1000 genomes]
rs29742	0.80[ASN][1000 genomes]
rs29743	0.80[ASN][1000 genomes]
rs29744	0.80[ASN][1000 genomes]
rs29761	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs376831	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs381471	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs389737	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs432071	0.80[ASN][1000 genomes]
rs453037	0.80[ASN][1000 genomes]
rs457776	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs461404	0.80[ASN][1000 genomes]
rs462366	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs466108	0.80[ASN][1000 genomes]
rs6897470	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7724201	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881070	chr5:40753877-40827307	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv880438	chr5:40753877-40900717	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
3	nsv597877	chr5:40796746-40848803	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	158 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs249441	TTC33	Cis_1M	lymphoblastoid	RTeQTL
rs249441	RPL37	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40808400-40826600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr5:40808800-40825600	Weak transcription	HSMM	muscle
3	chr5:40813200-40823600	Weak transcription	K562	blood
4	chr5:40814000-40821600	Weak transcription	Thymus	Thymus
5	chr5:40814200-40826000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr5:40814200-40826000	Weak transcription	GM12878-XiMat	blood
7	chr5:40814200-40826400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr5:40814400-40825000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:40814400-40825200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:40814600-40827000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:40816600-40826600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr5:40816600-40826800	Weak transcription	Brain Angular Gyrus	brain
13	chr5:40817400-40821600	Weak transcription	Fetal Thymus	thymus

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