Variant report

Variant	rs34580221
Chromosome Location	chr7:12723086-12723087
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:12722672..12723612-chr7:13218588..13219274,2	MCF-7	breast:
2	chr7:12722443..12725093-chr7:12726183..12729651,3	K562	blood:
3	chr7:12722907..12724053-chr7:13302414..13303228,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122644	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs13224178	1.00[AFR][1000 genomes]
rs13224956	1.00[AFR][1000 genomes]
rs13227823	0.90[EUR][1000 genomes]
rs13227930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13232089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13242483	1.00[AFR][1000 genomes]
rs17616248	1.00[AFR][1000 genomes]
rs17616514	1.00[AFR][1000 genomes]
rs34452532	1.00[AFR][1000 genomes]
rs34539754	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs34566369	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs35044018	1.00[AFR][1000 genomes]
rs35908302	1.00[AFR][1000 genomes]
rs56246037	1.00[AFR][1000 genomes]
rs66620565	1.00[AFR][1000 genomes]
rs67346212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71529345	1.00[AFR][1000 genomes]
rs71536895	1.00[AFR][1000 genomes]
rs73053466	1.00[AFR][1000 genomes]
rs73055418	1.00[AFR][1000 genomes]
rs73055427	1.00[AFR][1000 genomes]
rs73055444	1.00[AFR][1000 genomes]
rs73055447	1.00[AFR][1000 genomes]
rs73055475	1.00[AFR][1000 genomes]
rs73055491	1.00[AFR][1000 genomes]
rs892714	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv830907	chr7:12661239-12818250	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv830908	chr7:12695007-12870475	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv1794967	chr7:12710385-12758624	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	n/a
7	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12718200-12723800	Weak transcription	Placenta	Placenta
2	chr7:12721000-12725200	Weak transcription	K562	blood
3	chr7:12721600-12726000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:12721800-12723200	Weak transcription	A549	lung
5	chr7:12722000-12723400	Weak transcription	HepG2	liver
6	chr7:12722200-12726000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:12722400-12725000	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr7:12723000-12723800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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