Variant report

Variant	rs55829123
Chromosome Location	chr1:154741205-154741206
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10908439	0.80[EUR][1000 genomes]
rs11264256	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11589471	0.82[EUR][1000 genomes]
rs12047201	0.82[EUR][1000 genomes]
rs12123405	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12129712	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12130204	0.82[EUR][1000 genomes]
rs1911289	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2131900	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56033137	0.87[ASN][1000 genomes]
rs56995760	0.83[EUR][1000 genomes]
rs60161870	0.82[EUR][1000 genomes]
rs6666341	0.82[EUR][1000 genomes]
rs72700247	0.94[AMR][1000 genomes];0.97[EUR][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	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
3	nsv427797	chr1:154559115-154933717	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv470740	chr1:154568683-154796895	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv464050	chr1:154568683-154801247	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv547958	chr1:154568683-154801247	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154733400-154743800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:154733400-154744200	Weak transcription	Spleen	Spleen
3	chr1:154733400-154746400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:154738400-154742000	Enhancers	Fetal Muscle Trunk	muscle
5	chr1:154739000-154741400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:154739400-154741600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr1:154739400-154741600	Enhancers	Placenta	Placenta
8	chr1:154739400-154741800	Enhancers	Brain Cingulate Gyrus	brain
9	chr1:154739400-154741800	Genic enhancers	Fetal Stomach	stomach
10	chr1:154739600-154741400	Enhancers	Brain Anterior Caudate	brain
11	chr1:154739600-154741600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:154739600-154741800	Enhancers	Colon Smooth Muscle	Colon
13	chr1:154739600-154742200	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr1:154739800-154741400	Enhancers	Brain Substantia Nigra	brain
15	chr1:154739800-154741400	Enhancers	Rectal Smooth Muscle	rectum
16	chr1:154739800-154741400	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr1:154739800-154742000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr1:154740000-154741400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr1:154740000-154741600	Strong transcription	GM12878-XiMat	blood
20	chr1:154740200-154741400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:154740200-154744800	Weak transcription	Colonic Mucosa	Colon
22	chr1:154740400-154744000	Weak transcription	Fetal Brain Female	brain
23	chr1:154740400-154746000	Weak transcription	Brain Germinal Matrix	brain
24	chr1:154740400-154747600	Weak transcription	Fetal Brain Male	brain
25	chr1:154740600-154741600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
26	chr1:154740800-154746000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr1:154740800-154746200	Weak transcription	Brain Angular Gyrus	brain
28	chr1:154740800-154764000	Weak transcription	Right Ventricle	heart
29	chr1:154741000-154741400	Enhancers	Stomach Smooth Muscle	stomach
30	chr1:154741000-154742000	Genic enhancers	Fetal Muscle Leg	muscle
31	chr1:154741000-154744200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr1:154741200-154741400	Enhancers	Fetal Lung	lung
33	chr1:154741200-154741400	Enhancers	Left Ventricle	heart
34	chr1:154741200-154743800	Weak transcription	HSMMtube	muscle
35	chr1:154741200-154745600	Weak transcription	Brain Hippocampus Middle	brain

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