Variant report

Variant	rs11729475
Chromosome Location	chr4:130974978-130974979
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1022005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1022007	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13112908	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13113741	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs13148786	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1507776	0.86[EUR][1000 genomes]
rs17469824	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6534761	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6817012	0.82[EUR][1000 genomes]
rs6828230	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6844643	0.82[EUR][1000 genomes]
rs7697413	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019516	chr4:130754819-130976202	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1017270	chr4:130853337-130982586	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv879936	chr4:130941492-130981535	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
4	nsv595412	chr4:130962263-131001046	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv461640	chr4:130962263-131003605	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv595413	chr4:130962263-131003605	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv1027281	chr4:130962945-131005768	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv1027051	chr4:130962945-131010834	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv1019114	chr4:130962945-131013140	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv1027197	chr4:130965914-130998219	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv1028045	chr4:130965914-131004697	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130973400-130975000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:130974200-130975600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:130974200-130976400	Enhancers	HepG2	liver
4	chr4:130974400-130975200	Enhancers	Liver	Liver
5	chr4:130974400-130975600	Enhancers	Dnd41	blood
6	chr4:130974800-130975400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr4:130974800-130975600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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