Variant report

Variant	rs7229440
Chromosome Location	chr18:12925573-12925574
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12883056..12885478-chr18:12924770..12927286,2	MCF-7	breast:
2	chr18:12884698..12887915-chr18:12921814..12925737,3	K562	blood:
3	chr18:12924512..12926953-chr18:12930831..12933730,2	K562	blood:
4	chr18:12924682..12926485-chr18:12946178..12948268,2	K562	blood:
5	chr18:12924651..12926879-chr18:12928916..12931210,2	K562	blood:
6	chr18:12891807..12893710-chr18:12925068..12927863,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175354	Chromatin interaction
ENSG00000085415	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10468685	1.00[EUR][1000 genomes]
rs13381820	1.00[EUR][1000 genomes]
rs1628961	1.00[EUR][1000 genomes]
rs16939851	1.00[EUR][1000 genomes]
rs16939913	1.00[EUR][1000 genomes]
rs1786993	1.00[EUR][1000 genomes]
rs28436108	1.00[EUR][1000 genomes]
rs2847263	1.00[EUR][1000 genomes]
rs2847264	1.00[EUR][1000 genomes]
rs28579212	1.00[EUR][1000 genomes]
rs478502	1.00[EUR][1000 genomes]
rs506877	1.00[EUR][1000 genomes]
rs533010	1.00[EUR][1000 genomes]
rs547479	1.00[EUR][1000 genomes]
rs57580816	1.00[EUR][1000 genomes]
rs58839955	1.00[EUR][1000 genomes]
rs59434054	1.00[EUR][1000 genomes]
rs61320647	1.00[EUR][1000 genomes]
rs7236539	1.00[EUR][1000 genomes]
rs7240157	1.00[EUR][1000 genomes]
rs73407719	1.00[EUR][1000 genomes]
rs73407722	1.00[EUR][1000 genomes]
rs73407750	1.00[EUR][1000 genomes]
rs73407763	1.00[EUR][1000 genomes]
rs73407884	1.00[EUR][1000 genomes]
rs73416976	1.00[EUR][1000 genomes]
rs73419110	1.00[EUR][1000 genomes]
rs73419545	1.00[EUR][1000 genomes]
rs8083404	1.00[EUR][1000 genomes]
rs8099254	1.00[EUR][1000 genomes]
rs908577	1.00[EUR][1000 genomes]
rs9946422	1.00[EUR][1000 genomes]
rs9953795	1.00[EUR][1000 genomes]
rs9958518	1.00[EUR][1000 genomes]
rs9964950	1.00[EUR][1000 genomes]
rs9965936	1.00[EUR][1000 genomes]
rs9966740	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1064844	chr18:12748045-12953235	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
4	nsv543656	chr18:12748045-12953235	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
5	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer 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	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12922000-12933200	Weak transcription	Thymus	Thymus
2	chr18:12924800-12926200	Enhancers	Fetal Muscle Leg	muscle
3	chr18:12924800-12926400	Enhancers	Fetal Muscle Trunk	muscle
4	chr18:12925400-12925800	Weak transcription	Fetal Brain Male	brain

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