Variant report

Variant	rs60969
Chromosome Location	chr7:137988338-137988339
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:137988083..137990941-chr7:138145037..138146557,2	MCF-7	breast:
2	chr7:137978354..137980372-chr7:137985691..137988661,2	K562	blood:
3	chr7:137978354..137980840-chr7:137985937..137988661,2	K562	blood:

Variant related genes	Relation type
ENSG00000122779	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11983566	0.91[ASN][1000 genomes]
rs1643164	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs357371	0.86[ASN][1000 genomes]
rs357372	0.88[ASN][1000 genomes]
rs357381	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs357382	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs357383	0.91[ASN][1000 genomes]
rs357386	0.91[ASN][1000 genomes]
rs357435	0.86[ASN][1000 genomes]
rs357437	0.86[ASN][1000 genomes]
rs357445	0.88[ASN][1000 genomes]
rs357451	0.88[ASN][1000 genomes]
rs357454	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs357456	0.90[ASN][1000 genomes]
rs357457	0.90[ASN][1000 genomes]
rs367783	0.94[ASN][1000 genomes]
rs370275	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs373613	0.92[ASN][1000 genomes]
rs375018	0.94[ASN][1000 genomes]
rs380650	0.84[CHB][hapmap];0.91[ASN][1000 genomes]
rs382122	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs385127	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs392162	0.91[ASN][1000 genomes]
rs396918	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs397203	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs398970	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs399486	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs402228	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs402358	0.93[ASN][1000 genomes]
rs402486	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs407687	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs409813	0.95[ASN][1000 genomes]
rs424605	0.91[ASN][1000 genomes]
rs427954	0.93[ASN][1000 genomes]
rs428488	0.93[ASN][1000 genomes]
rs429103	0.93[ASN][1000 genomes]
rs431358	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs432187	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs446384	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs447273	0.92[ASN][1000 genomes]
rs449239	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6467758	0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs689683	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs690193	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7812254	0.85[YRI][hapmap];0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34048	chr7:137724092-138213119	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831152	chr7:137884311-138033117	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1029101	chr7:137952620-138005671	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv517949	chr7:137962186-137992969	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv5967	chr7:137988239-138015844	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	1 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	chr7:137988000-137988400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:137988000-137988600	Enhancers	Placenta Amnion	Placenta Amnion
3	chr7:137988000-137992800	Enhancers	Placenta	Placenta
4	chr7:137988200-137988400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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