Variant report

Variant	rs12625030
Chromosome Location	chr20:24642499-24642500
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	chr20:24637159..24638708-chr20:24641343..24643289,2	K562	blood:

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs11087473	1.00[YRI][hapmap]
rs11696125	1.00[YRI][hapmap]
rs12624535	0.81[EUR][1000 genomes]
rs12624740	0.81[EUR][1000 genomes]
rs12624767	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12625360	0.81[EUR][1000 genomes]
rs12625366	0.81[EUR][1000 genomes]
rs13039543	0.83[EUR][1000 genomes]
rs13040844	0.92[EUR][1000 genomes]
rs13040961	0.86[CHD][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs13041031	0.86[CHD][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs13045305	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13045365	0.86[CHD][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs13045834	0.81[EUR][1000 genomes]
rs2006215	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2092622	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2223827	0.93[EUR][1000 genomes]
rs34025188	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34125356	0.82[EUR][1000 genomes]
rs34219444	0.93[EUR][1000 genomes]
rs34241321	0.81[EUR][1000 genomes]
rs34439537	0.94[EUR][1000 genomes]
rs34639647	0.82[EUR][1000 genomes]
rs34988127	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35015656	0.81[EUR][1000 genomes]
rs35116461	0.82[EUR][1000 genomes]
rs35129087	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35268179	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35517542	0.82[EUR][1000 genomes]
rs35642348	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35646552	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35669555	0.81[EUR][1000 genomes]
rs35737177	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35820407	0.81[EUR][1000 genomes]
rs35830266	0.90[EUR][1000 genomes]
rs35832827	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35910989	0.82[EUR][1000 genomes]
rs36039857	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs36102356	0.82[EUR][1000 genomes]
rs3746326	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs3746328	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3813914	0.82[EUR][1000 genomes]
rs3813915	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4140548	1.00[CEU][hapmap];0.81[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.90[TSI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4140549	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4347916	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4513358	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4514953	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56067039	0.82[EUR][1000 genomes]
rs56227934	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56235927	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58773516	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59954369	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6036865	0.92[EUR][1000 genomes]
rs6036866	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6036867	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6036870	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6036871	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6036872	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6036878	1.00[CEU][hapmap];0.91[JPT][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6049845	0.88[EUR][1000 genomes]
rs6049846	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6049847	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6049849	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6049851	0.88[EUR][1000 genomes]
rs6049859	1.00[CEU][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6049860	1.00[CEU][hapmap];0.90[JPT][hapmap]
rs6049861	0.90[EUR][1000 genomes]
rs6049863	0.94[EUR][1000 genomes]
rs6049868	1.00[CEU][hapmap];0.91[JPT][hapmap];0.94[EUR][1000 genomes]
rs6049869	1.00[CEU][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes]
rs6049870	0.94[EUR][1000 genomes]
rs6049871	1.00[CEU][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes]
rs6049872	0.89[CEU][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes]
rs6049873	0.94[EUR][1000 genomes]
rs6049874	1.00[CEU][hapmap];0.91[JPT][hapmap];0.94[EUR][1000 genomes]
rs6049876	0.93[EUR][1000 genomes]
rs66477519	0.81[EUR][1000 genomes]
rs66630249	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs66640525	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs66725814	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67848178	0.86[EUR][1000 genomes]
rs729540	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs735186	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs742804	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs742807	1.00[CEU][hapmap];0.81[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.90[TSI][hapmap];0.94[EUR][1000 genomes]
rs742808	0.94[EUR][1000 genomes]
rs742809	0.94[EUR][1000 genomes]
rs761439	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8117582	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8117680	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8124800	0.93[EUR][1000 genomes]
rs8126100	0.81[EUR][1000 genomes]
rs880502	1.00[CEU][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][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	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

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24629200-24642600	Weak transcription	Right Atrium	heart
2	chr20:24634600-24648800	Weak transcription	Gastric	stomach
3	chr20:24638600-24643400	Weak transcription	Fetal Kidney	kidney
4	chr20:24639000-24650400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr20:24639200-24648600	Weak transcription	Spleen	Spleen
6	chr20:24640200-24643200	Weak transcription	Brain Angular Gyrus	brain
7	chr20:24640200-24643200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr20:24640400-24646000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr20:24640800-24643600	Enhancers	Brain Hippocampus Middle	brain
10	chr20:24641200-24654000	Weak transcription	Aorta	Aorta
11	chr20:24641400-24643000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr20:24641400-24645400	Weak transcription	Brain Anterior Caudate	brain
13	chr20:24641400-24649400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr20:24641600-24643200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr20:24641600-24643200	Weak transcription	Brain Substantia Nigra	brain
16	chr20:24641600-24643400	Enhancers	Fetal Muscle Trunk	muscle
17	chr20:24641600-24646200	Enhancers	Fetal Muscle Leg	muscle
18	chr20:24641800-24649800	Weak transcription	Right Ventricle	heart

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