Variant report

Variant	rs16830427
Chromosome Location	chr2:152717673-152717674
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11678607	1.00[EUR][1000 genomes]
rs11680386	0.96[EUR][1000 genomes]
rs11681677	1.00[EUR][1000 genomes]
rs11685243	0.80[EUR][1000 genomes]
rs11687218	1.00[EUR][1000 genomes]
rs11688428	1.00[EUR][1000 genomes]
rs11688476	1.00[EUR][1000 genomes]
rs35244681	1.00[EUR][1000 genomes]
rs4664507	0.88[EUR][1000 genomes]
rs61736804	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62174451	1.00[EUR][1000 genomes]
rs62174452	1.00[EUR][1000 genomes]
rs62174453	0.96[EUR][1000 genomes]
rs62174454	1.00[EUR][1000 genomes]
rs62174456	1.00[EUR][1000 genomes]
rs62174457	1.00[EUR][1000 genomes]
rs62174459	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62175660	1.00[EUR][1000 genomes]
rs62175661	1.00[EUR][1000 genomes]
rs62175662	1.00[EUR][1000 genomes]
rs62175663	1.00[EUR][1000 genomes]
rs62175664	1.00[EUR][1000 genomes]
rs62175665	1.00[EUR][1000 genomes]
rs62175666	1.00[EUR][1000 genomes]
rs62175667	1.00[EUR][1000 genomes]
rs62175668	1.00[EUR][1000 genomes]
rs62175712	0.96[EUR][1000 genomes]
rs62175715	0.96[EUR][1000 genomes]
rs62175745	0.80[EUR][1000 genomes]
rs62175747	0.80[EUR][1000 genomes]
rs756253	1.00[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	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3693431	chr2:152683731-152981827	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv875287	chr2:152714680-153110573	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv875288	chr2:152716628-153183646	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152695000-152732600	Weak transcription	Brain Angular Gyrus	brain
2	chr2:152699800-152742000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:152700000-152731200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:152700000-152732600	Weak transcription	Right Atrium	heart
5	chr2:152710200-152725800	Weak transcription	Fetal Brain Female	brain
6	chr2:152710400-152725600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:152710800-152724200	Weak transcription	Aorta	Aorta
8	chr2:152713000-152747800	Weak transcription	Brain Germinal Matrix	brain
9	chr2:152715200-152717800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:152716000-152718200	Enhancers	Placenta	Placenta
11	chr2:152716400-152725800	Weak transcription	HepG2	liver
12	chr2:152717000-152717800	Enhancers	HMEC	breast
13	chr2:152717200-152717800	Enhancers	HSMMtube	muscle
14	chr2:152717200-152718800	Enhancers	Colon Smooth Muscle	Colon
15	chr2:152717400-152718000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:152717400-152718000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:152717400-152718200	Enhancers	Rectal Smooth Muscle	rectum
18	chr2:152717400-152718600	Enhancers	GM12878-XiMat	blood
19	chr2:152717600-152718000	Enhancers	Stomach Smooth Muscle	stomach
20	chr2:152717600-152718600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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