Variant report

Variant	rs59154284
Chromosome Location	chr3:138156596-138156597
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs55890669	0.82[AFR][1000 genomes]
rs56055821	0.82[AFR][1000 genomes]
rs56118112	1.00[AFR][1000 genomes]
rs57863637	0.82[AFR][1000 genomes]
rs58924542	0.91[AFR][1000 genomes]
rs73864589	0.82[AFR][1000 genomes]
rs73868105	0.82[AFR][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	nsv530056	chr3:137312356-138161861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv877537	chr3:137979007-138215114	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv3447663	chr3:138096329-138273034	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv460864	chr3:138100539-138194435	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv591853	chr3:138100539-138194435	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv999041	chr3:138148812-138347988	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr3:138154200-138157000	Weak transcription	HSMMtube	muscle
2	chr3:138154400-138159200	Weak transcription	HepG2	liver
3	chr3:138154600-138157600	Weak transcription	HSMM	muscle
4	chr3:138154600-138159200	Weak transcription	Right Ventricle	heart
5	chr3:138154800-138160000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:138155000-138156800	Enhancers	Lung	lung
7	chr3:138155000-138157600	Weak transcription	NHDF-Ad	bronchial
8	chr3:138155000-138158000	Weak transcription	Colon Smooth Muscle	Colon
9	chr3:138155000-138158000	Weak transcription	Pancreas	Pancrea
10	chr3:138155000-138159000	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr3:138155000-138182800	Weak transcription	Gastric	stomach
12	chr3:138155200-138169200	Weak transcription	Brain Angular Gyrus	brain
13	chr3:138155600-138161800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr3:138156000-138158600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr3:138156000-138175800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr3:138156200-138156800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:138156200-138158400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr3:138156400-138156600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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