Variant report

Variant	rs4916995
Chromosome Location	chr7:49890730-49890731
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:49885546..49887882-chr7:49887919..49890791,2	K562	blood:
2	chr7:49040544..49041504-chr7:49890143..49891051,2	MCF-7	breast:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs11185592	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11185593	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11978548	0.81[EUR][1000 genomes]
rs12532827	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12718225	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13245999	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13310601	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1351694	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1384635	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1384636	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1384637	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1483071	0.80[ASN][1000 genomes]
rs1483072	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1483074	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1483094	0.81[EUR][1000 genomes]
rs1564740	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1567269	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1872137	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1983159	0.81[EUR][1000 genomes]
rs1983162	0.81[EUR][1000 genomes]
rs2046300	0.81[EUR][1000 genomes]
rs2086696	0.81[EUR][1000 genomes]
rs2170787	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2365784	0.81[EUR][1000 genomes]
rs2886462	0.81[EUR][1000 genomes]
rs3850669	0.81[EUR][1000 genomes]
rs4451253	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4916997	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4916998	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4917094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4917095	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs495813	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs528279	0.82[EUR][1000 genomes]
rs539930	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs544853	0.82[EUR][1000 genomes]
rs598871	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs623107	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62456370	0.86[AMR][1000 genomes]
rs629285	0.82[EUR][1000 genomes]
rs6583394	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6583395	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6583396	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6583397	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs690842	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs691194	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs691413	0.89[EUR][1000 genomes]
rs691458	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs691636	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs692039	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs692201	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs692667	0.89[EUR][1000 genomes]
rs6952121	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6953702	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6957719	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6963083	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6966640	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6977361	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs726383	0.81[EUR][1000 genomes]
rs769922	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs769927	0.82[EUR][1000 genomes]
rs7779095	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7788609	0.81[EUR][1000 genomes]
rs7797267	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7802037	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7809987	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs985489	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464444	chr7:49671882-50454736	Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv606897	chr7:49671883-50454736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv498090	chr7:49708644-50427714	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1020869	chr7:49712860-50457544	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:49886200-49891800	Weak transcription	Ovary	ovary
2	chr7:49887600-49892600	Weak transcription	Right Atrium	heart
3	chr7:49888200-49895000	Weak transcription	Right Ventricle	heart
4	chr7:49888600-49892600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:49889400-49891000	Enhancers	Left Ventricle	heart

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