Variant report

Variant	rs4426807
Chromosome Location	chr4:80604195-80604196
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12508777	0.89[AFR][1000 genomes]
rs12511432	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12645453	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13123130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13131547	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17447715	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4286541	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4286542	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4339239	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4401474	0.81[AFR][1000 genomes]
rs4412018	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4569784	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4975063	0.82[AFR][1000 genomes]
rs4975102	0.81[AFR][1000 genomes]
rs4975103	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4975108	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55981032	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56204003	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62297307	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62297310	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62297311	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6534488	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72649355	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7656466	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7684373	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][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	nsv879506	chr4:80316417-80604625	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1002031	chr4:80459528-80759113	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1005152	chr4:80549659-80814456	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv997478	chr4:80578536-80669871	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1006225	chr4:80578536-80670045	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv521454	chr4:80598796-80654020	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv594737	chr4:80598796-80669947	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:80601200-80606000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:80601600-80605800	Weak transcription	Dnd41	blood
3	chr4:80602800-80604600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr4:80603200-80604400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:80603200-80604400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:80603200-80604400	Enhancers	NH-A	brain
7	chr4:80603400-80604400	Enhancers	Brain Germinal Matrix	brain
8	chr4:80603400-80604600	Enhancers	Colon Smooth Muscle	Colon
9	chr4:80603600-80604200	Active TSS	Brain Cingulate Gyrus	brain
10	chr4:80603800-80604200	Flanking Active TSS	Brain Hippocampus Middle	brain
11	chr4:80603800-80604200	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr4:80603800-80604200	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr4:80603800-80604600	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr4:80604000-80604200	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr4:80604000-80604400	Enhancers	H1 Cell Line	embryonic stem cell
16	chr4:80604000-80604400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:80604000-80604400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:80604000-80604400	Enhancers	Aorta	Aorta
19	chr4:80604000-80604400	Enhancers	Brain Anterior Caudate	brain
20	chr4:80604000-80604400	Enhancers	Brain Substantia Nigra	brain
21	chr4:80604000-80604400	Enhancers	Fetal Muscle Trunk	muscle
22	chr4:80604000-80604400	Enhancers	Fetal Muscle Leg	muscle
23	chr4:80604000-80604400	Enhancers	Gastric	stomach
24	chr4:80604000-80604400	Enhancers	Psoas Muscle	Psoas
25	chr4:80604000-80604600	Enhancers	Fetal Brain Male	brain
26	chr4:80604000-80604600	Enhancers	Fetal Brain Female	brain
27	chr4:80604000-80604600	Enhancers	Skeletal Muscle Male	skeletal muscle

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