Variant report

Variant	rs4865539
Chromosome Location	chr5:52122127-52122128
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1587398	0.92[EUR][1000 genomes]
rs17277080	0.84[AFR][1000 genomes]
rs2454586	0.97[EUR][1000 genomes]
rs2456211	0.95[EUR][1000 genomes]
rs2456213	0.98[EUR][1000 genomes]
rs2456214	0.98[EUR][1000 genomes]
rs2936574	0.92[EUR][1000 genomes]
rs35165696	0.96[ASN][1000 genomes]
rs58167746	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72756553	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72756554	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	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	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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52106200-52132600	Weak transcription	Lung	lung
2	chr5:52108000-52123000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:52109800-52123200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:52118600-52126000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr5:52118600-52126600	Weak transcription	Left Ventricle	heart
6	chr5:52118600-52137600	Weak transcription	Small Intestine	intestine
7	chr5:52119000-52124600	Weak transcription	Right Atrium	heart
8	chr5:52119000-52133000	Weak transcription	Aorta	Aorta
9	chr5:52119400-52126600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:52119600-52125600	Weak transcription	Colon Smooth Muscle	Colon
11	chr5:52119600-52126400	Weak transcription	Fetal Lung	lung
12	chr5:52119600-52126600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr5:52119600-52132200	Weak transcription	NHLF	lung
14	chr5:52119800-52125600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr5:52121200-52122400	Enhancers	GM12878-XiMat	blood
16	chr5:52121200-52125600	Weak transcription	Adipose Nuclei	Adipose
17	chr5:52121400-52122600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr5:52122000-52133000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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