Variant report

Variant	rs12653072
Chromosome Location	chr5:29786239-29786240
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:29784571..29787438-chr5:29789979..29792969,3	K562	blood:
2	chr5:29785498..29787507-chr5:29789131..29791399,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10520950	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10520951	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12651967	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12653144	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12653695	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12653753	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12654016	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12655866	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12656237	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12657245	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12657687	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12657802	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12658382	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12659873	1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16899404	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16899409	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16899677	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs57074187	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57158757	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57353106	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58810615	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59348224	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60844216	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6889054	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73076353	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73076357	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73076370	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73076380	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73077041	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73077048	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73077049	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73077055	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73077059	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73077061	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73077062	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7701940	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7705429	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9686757	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9687994	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016603	chr5:29102713-29843965	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv537712	chr5:29102713-29843965	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	esv3385368	chr5:29548608-29910057	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv830244	chr5:29630122-29790611	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1029329	chr5:29778216-29805002	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1026460	chr5:29785485-29814309	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
7	nsv1034228	chr5:29785485-29815868	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
8	nsv1018046	chr5:29785776-29818396	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29781200-29788400	Weak transcription	HepG2	liver
2	chr5:29785400-29787800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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