Variant report

Variant	rs73978235
Chromosome Location	chr17:15328689-15328690
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs55763007	1.00[AMR][1000 genomes]
rs56034888	1.00[AMR][1000 genomes]
rs56120533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59631163	1.00[AMR][1000 genomes]
rs61575996	1.00[AMR][1000 genomes]
rs6502463	1.00[AMR][1000 genomes]
rs7217356	1.00[AMR][1000 genomes]
rs73978043	1.00[AMR][1000 genomes]
rs73978049	1.00[AMR][1000 genomes]
rs73978258	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv427990	chr17:15154329-15434020	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv907703	chr17:15199907-15370701	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv949172	chr17:15206970-15416808	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv1055677	chr17:15294011-15561130	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
8	nsv1058286	chr17:15315763-15561130	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv543213	chr17:15315763-15561130	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS 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	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15313200-15332600	Weak transcription	Lung	lung
2	chr17:15319800-15333400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr17:15322800-15328800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr17:15325200-15328800	Enhancers	Placenta	Placenta
5	chr17:15326000-15340200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr17:15326200-15336800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr17:15326400-15335800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr17:15326400-15340600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr17:15326600-15332600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr17:15326600-15340200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr17:15326800-15329600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr17:15326800-15329800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr17:15326800-15336200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr17:15327200-15329800	Enhancers	Fetal Lung	lung
15	chr17:15328000-15328800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr17:15328200-15329000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr17:15328200-15329000	Enhancers	Brain Cingulate Gyrus	brain
18	chr17:15328200-15330000	Enhancers	Fetal Muscle Leg	muscle
19	chr17:15328400-15328800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr17:15328400-15329000	Enhancers	Fetal Stomach	stomach
21	chr17:15328400-15329600	Weak transcription	Brain Substantia Nigra	brain
22	chr17:15328600-15329000	Enhancers	Fetal Muscle Trunk	muscle
23	chr17:15328600-15334200	Weak transcription	Brain Anterior Caudate	brain
24	chr17:15328600-15336200	Weak transcription	Right Atrium	heart

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