Variant report

Variant	rs73345241
Chromosome Location	chr20:25711725-25711726
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr20:25711610-25712469	SH-SY5Y	brain:	n/a	chr20:25712312-25712325 chr20:25712314-25712323 chr20:25711805-25711821 chr20:25712313-25712323 chr20:25712307-25712328 chr20:25712311-25712321 chr20:25712314-25712321

Variant related genes	Relation type
VN1R108P	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs57150489	1.00[EUR][1000 genomes]
rs57870458	1.00[EUR][1000 genomes]
rs57982209	1.00[EUR][1000 genomes]
rs59631229	1.00[EUR][1000 genomes]
rs6037213	1.00[EUR][1000 genomes]
rs6050738	1.00[EUR][1000 genomes]
rs61146844	1.00[EUR][1000 genomes]
rs6115245	1.00[EUR][1000 genomes]
rs61598299	1.00[EUR][1000 genomes]
rs6515689	1.00[EUR][1000 genomes]
rs7273366	1.00[EUR][1000 genomes]
rs73334116	1.00[EUR][1000 genomes]
rs73341321	1.00[EUR][1000 genomes]
rs73341330	1.00[EUR][1000 genomes]
rs73341334	1.00[EUR][1000 genomes]
rs73341353	1.00[AMR][1000 genomes]
rs73341383	1.00[EUR][1000 genomes]
rs73343243	1.00[EUR][1000 genomes]
rs73343250	1.00[EUR][1000 genomes]
rs73343258	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73343264	1.00[EUR][1000 genomes]
rs73343265	1.00[EUR][1000 genomes]
rs73345239	1.00[AMR][1000 genomes]
rs73345246	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345256	1.00[EUR][1000 genomes]
rs73348906	1.00[EUR][1000 genomes]
rs73348986	1.00[EUR][1000 genomes]
rs8118159	1.00[EUR][1000 genomes]
rs8125097	1.00[EUR][1000 genomes]
rs8125218	1.00[EUR][1000 genomes]
rs9917415	1.00[EUR][1000 genomes]
rs9917460	1.00[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	nsv912834	chr20:25615272-25756336	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1056288	chr20:25662941-25744711	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1057618	chr20:25665455-25744711	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv525033	chr20:25688001-25730968	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2758517	chr20:25701992-26319569	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
6	esv2758790	chr20:25701992-26319569	Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25700400-25725400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr20:25701200-25720200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr20:25708000-25715800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr20:25708000-25716200	Weak transcription	Thymus	Thymus
5	chr20:25708000-25717200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr20:25708000-25717600	Weak transcription	Psoas Muscle	Psoas
7	chr20:25708000-25724600	Weak transcription	Brain Substantia Nigra	brain
8	chr20:25708000-25731400	Weak transcription	Esophagus	oesophagus
9	chr20:25711200-25715400	Weak transcription	Gastric	stomach
10	chr20:25711600-25724800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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