Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:40812798..40819830-chr5:40821906..40830676,11	MCF-7	breast:
2	chr5:40813012..40816199-chr5:40833185..40835725,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145592	Chromatin interaction

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1070446	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs154268	0.83[EUR][1000 genomes]
rs154275	0.82[EUR][1000 genomes]
rs154280	0.81[EUR][1000 genomes]
rs154284	0.82[EUR][1000 genomes]
rs173620	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs192219	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs193864	0.81[EUR][1000 genomes]
rs2008763	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs249428	0.81[EUR][1000 genomes]
rs249429	0.81[EUR][1000 genomes]
rs249437	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs249441	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs257009	0.83[EUR][1000 genomes]
rs29740	0.81[EUR][1000 genomes]
rs29761	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34783322	0.82[EUR][1000 genomes]
rs376831	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs381471	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs389737	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs457776	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs461404	0.83[EUR][1000 genomes]
rs462366	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs466108	0.83[EUR][1000 genomes]
rs466962	0.83[EUR][1000 genomes]
rs7711806	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs837101	0.80[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
rs6897470	RPL37	Cis_1M	lymphoblastoid	RTeQTL
rs6897470	TTC33	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:11 , 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	chr5:40813800-40814400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:40813800-40814400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:40813800-40814600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:40814000-40814400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr5:40814000-40821600	Weak transcription	Thymus	Thymus
9	chr5:40814200-40826000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr5:40814200-40826000	Weak transcription	GM12878-XiMat	blood
11	chr5:40814200-40826400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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