Variant report

Variant	rs8123888
Chromosome Location	chr20:24673526-24673527
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	chr20:24671407..24673133-chr20:24673157..24675510,2	K562	blood:
2	chr20:24671696..24673797-chr20:24673883..24676356,3	MCF-7	breast:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs12624535	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12624740	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12625360	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12625366	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13040844	0.82[EUR][1000 genomes]
rs13045305	0.86[EUR][1000 genomes]
rs13045834	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2006215	0.84[EUR][1000 genomes]
rs2092622	0.84[EUR][1000 genomes]
rs2223827	0.85[EUR][1000 genomes]
rs34025188	0.84[EUR][1000 genomes]
rs34025307	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34125356	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34219444	0.85[EUR][1000 genomes]
rs34241321	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34439537	0.84[EUR][1000 genomes]
rs34639647	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34988127	0.84[EUR][1000 genomes]
rs35006396	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35015656	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35116461	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35129087	0.84[EUR][1000 genomes]
rs35517542	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35646552	0.85[EUR][1000 genomes]
rs35669555	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35737177	0.84[EUR][1000 genomes]
rs35820407	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35910989	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36039857	0.84[EUR][1000 genomes]
rs36102356	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3813915	0.85[EUR][1000 genomes]
rs4140548	0.84[EUR][1000 genomes]
rs4140549	0.83[EUR][1000 genomes]
rs4347916	0.84[EUR][1000 genomes]
rs4513358	0.84[EUR][1000 genomes]
rs4514953	0.84[EUR][1000 genomes]
rs56067039	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56227934	0.84[EUR][1000 genomes]
rs56235927	0.84[EUR][1000 genomes]
rs58773516	0.84[EUR][1000 genomes]
rs59954369	0.84[EUR][1000 genomes]
rs6036865	0.82[EUR][1000 genomes]
rs6036866	0.84[EUR][1000 genomes]
rs6036867	0.84[EUR][1000 genomes]
rs6036870	0.84[EUR][1000 genomes]
rs6036871	0.84[EUR][1000 genomes]
rs6036872	0.84[EUR][1000 genomes]
rs6036878	0.84[EUR][1000 genomes]
rs6049846	0.84[EUR][1000 genomes]
rs6049847	0.84[EUR][1000 genomes]
rs6049849	0.84[EUR][1000 genomes]
rs6049859	0.83[EUR][1000 genomes]
rs6049863	0.84[EUR][1000 genomes]
rs6049868	0.84[EUR][1000 genomes]
rs6049869	0.84[EUR][1000 genomes]
rs6049870	0.84[EUR][1000 genomes]
rs6049871	0.84[EUR][1000 genomes]
rs6049872	0.84[EUR][1000 genomes]
rs6049873	0.84[EUR][1000 genomes]
rs6049874	0.84[EUR][1000 genomes]
rs6049876	0.85[EUR][1000 genomes]
rs66477519	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66630249	0.84[EUR][1000 genomes]
rs66640525	0.84[EUR][1000 genomes]
rs66725814	0.84[EUR][1000 genomes]
rs67848178	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs734288	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs742807	0.84[EUR][1000 genomes]
rs742808	0.84[EUR][1000 genomes]
rs742809	0.84[EUR][1000 genomes]
rs761439	0.84[EUR][1000 genomes]
rs8117582	0.84[EUR][1000 genomes]
rs8117680	0.84[EUR][1000 genomes]
rs8124800	0.85[EUR][1000 genomes]
rs8126100	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs880502	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9793	chr20:23939613-24734850	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv3332519	chr20:24535099-24815615	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1061412	chr20:24629468-24887869	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv544216	chr20:24629468-24887869	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv524920	chr20:24639916-24683554	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1061537	chr20:24643869-24683649	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv585744	chr20:24647725-24685440	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24661400-24676000	Weak transcription	Fetal Kidney	kidney
2	chr20:24666600-24684000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr20:24672200-24673800	Enhancers	Thymus	Thymus
4	chr20:24672400-24677200	Enhancers	Fetal Thymus	thymus
5	chr20:24672800-24674400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr20:24673000-24674400	Enhancers	Primary hematopoietic stem cells	blood
7	chr20:24673200-24674200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr20:24673200-24674600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr20:24673400-24674600	Weak transcription	Spleen	Spleen
10	chr20:24673400-24674800	Enhancers	Left Ventricle	heart

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