Variant report

Variant	rs73059383
Chromosome Location	chr3:179755406-179755407
allele	C/T
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	REST	chr3:179754146-179755517	H1-neurons	neurons:	n/a	n/a
2	SIN3A	chr3:179753777-179755452	H1-hESC	embryonic stem cell:	n/a	n/a
3	REST	chr3:179753756-179755754	HL-60	blood:	n/a	n/a
4	MAX	chr3:179754038-179755559	H1-hESC	embryonic stem cell:	n/a	chr3:179754861-179754871
5	E2F6	chr3:179754358-179755419	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
PEX5L	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs6764921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6800787	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6806249	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73059392	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7635439	1.00[EUR][1000 genomes]
rs7648641	1.00[EUR][1000 genomes]
rs7648838	1.00[EUR][1000 genomes]
rs9816040	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9853361	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9854231	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534210	chr3:179666123-179899347	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1000756	chr3:179672703-179827373	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:179750600-179755600	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr3:179751400-179755600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr3:179752200-179755600	Active TSS	Brain Angular Gyrus	brain
4	chr3:179753200-179755800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr3:179753400-179755600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:179753400-179755600	Bivalent/Poised TSS	Fetal Brain Female	brain
7	chr3:179753600-179755600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr3:179753600-179755600	Active TSS	Brain Cingulate Gyrus	brain
9	chr3:179754200-179755600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr3:179754400-179755600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
11	chr3:179754400-179755600	Active TSS	Brain Substantia Nigra	brain
12	chr3:179755000-179755600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
13	chr3:179755000-179755600	Flanking Active TSS	Dnd41	blood
14	chr3:179755200-179755600	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr3:179755200-179755600	Flanking Active TSS	Thymus	Thymus
16	chr3:179755400-179755600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
17	chr3:179755400-179755600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:179755400-179755600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr3:179755400-179755600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
20	chr3:179755400-179755600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
21	chr3:179755400-179755600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
22	chr3:179755400-179755600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
23	chr3:179755400-179755600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:179755400-179755600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:179755400-179755600	Bivalent Enhancer	Brain Germinal Matrix	brain
26	chr3:179755400-179755600	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr3:179755400-179755600	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
28	chr3:179755400-179755600	Bivalent/Poised TSS	GM12878-XiMat	blood
29	chr3:179755400-179758400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:179755400-179758600	Weak transcription	HMEC	breast

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