Variant report

Variant	rs7628717
Chromosome Location	chr3:133469431-133469432
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:12)

rs_ID	r²[population]
rs56781958	1.00[AMR][1000 genomes]
rs61046066	1.00[AMR][1000 genomes]
rs6778321	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72972278	1.00[AMR][1000 genomes]
rs72972285	1.00[AMR][1000 genomes]
rs72974325	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72974378	1.00[AMR][1000 genomes]
rs72974382	1.00[AMR][1000 genomes]
rs7628133	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8177223	0.81[AFR][1000 genomes]
rs8177228	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8177230	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877506	chr3:133423473-133569777	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS 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	10 gene(s)	inside rSNPs	diseases
2	nsv933605	chr3:133425907-133680641	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS 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	12 gene(s)	inside rSNPs	diseases
3	nsv829729	chr3:133444871-133620387	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv877507	chr3:133465201-133473516	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr3:133465600-133483000	Weak transcription	Brain Germinal Matrix	brain
2	chr3:133465800-133470000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr3:133466800-133476800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:133467000-133470000	Transcr. at gene 5' and 3'	HepG2	liver
5	chr3:133467600-133469600	Enhancers	K562	blood
6	chr3:133468400-133469600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr3:133468600-133469600	Enhancers	Fetal Muscle Leg	muscle
8	chr3:133468800-133469600	Enhancers	Adipose Nuclei	Adipose
9	chr3:133469000-133469600	Enhancers	Fetal Stomach	stomach
10	chr3:133469000-133469600	Enhancers	Pancreas	Pancrea
11	chr3:133469200-133469600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr3:133469200-133469600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:133469200-133469600	Active TSS	Brain Anterior Caudate	brain
14	chr3:133469200-133469600	Flanking Active TSS	Brain Cingulate Gyrus	brain
15	chr3:133469200-133469600	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr3:133469200-133469600	Active TSS	Brain Substantia Nigra	brain
17	chr3:133469200-133469600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr3:133469400-133469600	Flanking Active TSS	Liver	Liver
19	chr3:133469400-133469600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
20	chr3:133469400-133471600	Weak transcription	Brain Angular Gyrus	brain
21	chr3:133469400-133472000	Weak transcription	Esophagus	oesophagus
22	chr3:133469400-133473200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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