Variant report

Variant	rs12652120
Chromosome Location	chr5:52115912-52115913
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	0.85[ASN][1000 genomes]
rs11742326	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12653042	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13158244	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13162617	0.85[ASN][1000 genomes]
rs13182946	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13188662	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13189629	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2454581	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2454582	0.90[ASN][1000 genomes]
rs2548495	0.85[ASN][1000 genomes]
rs2648728	0.85[ASN][1000 genomes]
rs2938796	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6879140	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6883810	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6889045	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:22 , 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	chr5:52111400-52117400	Weak transcription	Adipose Nuclei	Adipose
13	chr5:52111400-52118200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr5:52111600-52117200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr5:52111600-52117200	Weak transcription	Fetal Lung	lung
16	chr5:52112400-52118000	Weak transcription	Fetal Stomach	stomach
17	chr5:52113200-52117200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr5:52113400-52117600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr5:52114600-52117000	Weak transcription	Colon Smooth Muscle	Colon
20	chr5:52114800-52118200	Weak transcription	Fetal Kidney	kidney
21	chr5:52115000-52117800	Weak transcription	Liver	Liver
22	chr5:52115600-52118000	Weak transcription	Fetal Heart	heart

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