Variant report

Variant	rs2454581
Chromosome Location	chr5:52117854-52117855
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10940270	0.91[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs11742326	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12652120	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12653042	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13158244	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13162617	0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs13182946	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13188662	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13189629	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2454582	0.93[ASN][1000 genomes]
rs2548495	0.85[ASN][1000 genomes]
rs2648728	0.85[ASN][1000 genomes]
rs2938796	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6879140	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6883810	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6889045	0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754787	chr5:51688543-52193243	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv462187	chr5:51758804-52333420	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv598163	chr5:51758804-52333420	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv471013	chr5:51779197-52339114	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv1020640	chr5:52058830-52120858	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv830295	chr5:52084532-52257696	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52099000-52118000	Weak transcription	Right Ventricle	heart
2	chr5:52099800-52118200	Weak transcription	Psoas Muscle	Psoas
3	chr5:52106200-52132600	Weak transcription	Lung	lung
4	chr5:52108000-52123000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:52108800-52118400	Weak transcription	Aorta	Aorta
6	chr5:52109800-52123200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:52110000-52118200	Weak transcription	NHLF	lung
8	chr5:52110200-52118000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:52110200-52118200	Weak transcription	Left Ventricle	heart
10	chr5:52110200-52118200	Weak transcription	Right Atrium	heart
11	chr5:52111200-52118000	Weak transcription	Small Intestine	intestine
12	chr5:52111400-52118200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr5:52112400-52118000	Weak transcription	Fetal Stomach	stomach
14	chr5:52114800-52118200	Weak transcription	Fetal Kidney	kidney
15	chr5:52115600-52118000	Weak transcription	Fetal Heart	heart
16	chr5:52117000-52119600	Enhancers	Colon Smooth Muscle	Colon
17	chr5:52117200-52118400	Enhancers	Rectal Smooth Muscle	rectum
18	chr5:52117200-52119600	Enhancers	Fetal Lung	lung
19	chr5:52117400-52118000	Enhancers	Adipose Nuclei	Adipose
20	chr5:52117400-52118000	Enhancers	NHDF-Ad	bronchial
21	chr5:52117600-52118200	Enhancers	Stomach Smooth Muscle	stomach
22	chr5:52117800-52118000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:52117800-52118000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:52117800-52119000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr5:52117800-52121400	Enhancers	Liver	Liver

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