Variant report

Variant	rs255557
Chromosome Location	chr5:58540210-58540211
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs153985	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs181915	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs26689	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs26694	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs26700	0.87[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs26703	0.88[CEU][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs26710	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs26713	0.85[ASN][1000 genomes]
rs26714	0.87[CEU][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs26715	0.92[CEU][hapmap];0.82[CHB][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs27549	0.86[ASN][1000 genomes]
rs27670	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs27695	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs27773	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs27957	0.87[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28054	0.95[YRI][hapmap];0.87[AFR][1000 genomes]
rs28055	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35304	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35308	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35309	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs35310	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs455969	0.84[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs466742	0.81[AMR][1000 genomes];0.88[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	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv598252	chr5:58487764-58618889	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv881703	chr5:58517918-58540847	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1025807	chr5:58520050-58548231	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv520721	chr5:58520735-58558388	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58527400-58549800	Weak transcription	Aorta	Aorta
2	chr5:58532600-58540800	Weak transcription	Fetal Muscle Leg	muscle
3	chr5:58532600-58541000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:58533200-58540800	Weak transcription	HSMMtube	muscle
5	chr5:58533600-58541000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr5:58535400-58541000	Weak transcription	Fetal Intestine Large	intestine
7	chr5:58535600-58540800	Weak transcription	Brain Hippocampus Middle	brain
8	chr5:58535600-58540800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr5:58535600-58541000	Weak transcription	Right Ventricle	heart
10	chr5:58535600-58551800	Weak transcription	HUVEC	blood vessel
11	chr5:58537200-58540800	Weak transcription	Fetal Intestine Small	intestine
12	chr5:58537200-58540800	Weak transcription	Right Atrium	heart
13	chr5:58537200-58541000	Weak transcription	Osteobl	bone
14	chr5:58537200-58541400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr5:58537200-58542600	Weak transcription	Fetal Kidney	kidney
16	chr5:58537400-58540800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr5:58537400-58541000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:58537400-58542200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr5:58537400-58543600	Weak transcription	Left Ventricle	heart
20	chr5:58537600-58540800	Weak transcription	Brain Angular Gyrus	brain
21	chr5:58537600-58541000	Weak transcription	Fetal Heart	heart
22	chr5:58537600-58548600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:58537600-58553000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr5:58537800-58540800	Weak transcription	Adipose Nuclei	Adipose
25	chr5:58537800-58541000	Weak transcription	Brain Substantia Nigra	brain
26	chr5:58537800-58542600	Weak transcription	Hela-S3	cervix
27	chr5:58538000-58541000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:58538200-58540800	Weak transcription	Fetal Lung	lung
29	chr5:58538400-58541000	Weak transcription	Psoas Muscle	Psoas
30	chr5:58538600-58541000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr5:58538800-58540800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr5:58539000-58540800	Weak transcription	Colon Smooth Muscle	Colon
33	chr5:58539000-58540800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr5:58539000-58540800	Weak transcription	A549	lung
35	chr5:58539000-58543000	Weak transcription	Small Intestine	intestine

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