Variant report

Variant	rs7448340
Chromosome Location	chr5:111930660-111930661
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	chr5:111930631..111932232-chr5:111935331..111936839,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10052730	1.00[ASN][1000 genomes]
rs10052739	1.00[ASN][1000 genomes]
rs10066425	0.92[ASN][1000 genomes]
rs10067709	1.00[ASN][1000 genomes]
rs11742518	1.00[ASN][1000 genomes]
rs11747396	1.00[ASN][1000 genomes]
rs12110086	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12516949	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12518872	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13185746	1.00[ASN][1000 genomes]
rs4073304	1.00[ASN][1000 genomes]
rs4073305	1.00[ASN][1000 genomes]
rs4073306	0.99[ASN][1000 genomes]
rs4246013	0.92[ASN][1000 genomes]
rs4362986	0.92[ASN][1000 genomes]
rs4415120	0.92[ASN][1000 genomes]
rs4469237	0.92[ASN][1000 genomes]
rs4957652	0.95[ASN][1000 genomes]
rs4957653	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4957654	1.00[ASN][1000 genomes]
rs4957655	1.00[ASN][1000 genomes]
rs4957657	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4958063	0.92[ASN][1000 genomes]
rs4958065	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4958067	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4958069	0.91[ASN][1000 genomes]
rs62365791	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62365805	0.97[EUR][1000 genomes]
rs62365806	0.91[EUR][1000 genomes]
rs6421845	0.97[ASN][1000 genomes]
rs6594619	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6594625	1.00[ASN][1000 genomes]
rs6594627	1.00[ASN][1000 genomes]
rs6594628	1.00[ASN][1000 genomes]
rs6594629	1.00[ASN][1000 genomes]
rs6594630	1.00[ASN][1000 genomes]
rs6594631	1.00[ASN][1000 genomes]
rs6594632	1.00[ASN][1000 genomes]
rs6594633	1.00[ASN][1000 genomes]
rs6594635	0.98[ASN][1000 genomes]
rs6594640	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6863537	1.00[ASN][1000 genomes]
rs6864143	0.89[ASN][1000 genomes]
rs7378752	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7448452	1.00[ASN][1000 genomes]
rs7448478	0.99[ASN][1000 genomes]
rs7448522	1.00[ASN][1000 genomes]
rs7703825	1.00[ASN][1000 genomes]
rs7710128	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7713574	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7713733	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7717646	1.00[ASN][1000 genomes]
rs7717938	1.00[ASN][1000 genomes]
rs7733473	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7737751	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv20349	chr5:111915807-111944317	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111928600-111930800	Enhancers	Fetal Stomach	stomach
2	chr5:111929400-111930800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:111929400-111932000	Enhancers	Fetal Kidney	kidney
4	chr5:111929600-111930800	Enhancers	Brain Angular Gyrus	brain
5	chr5:111929600-111930800	Enhancers	Colon Smooth Muscle	Colon
6	chr5:111929600-111931000	Enhancers	Fetal Brain Male	brain
7	chr5:111929600-111932200	Enhancers	Fetal Brain Female	brain
8	chr5:111930000-111931200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr5:111930200-111930800	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr5:111930200-111935400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr5:111930400-111930800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:111930400-111931000	Enhancers	Brain Hippocampus Middle	brain
13	chr5:111930400-111931200	Enhancers	Brain Cingulate Gyrus	brain
14	chr5:111930600-111930800	Enhancers	Brain Anterior Caudate	brain
15	chr5:111930600-111930800	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr5:111930600-111930800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr5:111930600-111930800	Enhancers	Brain Substantia Nigra	brain

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