Variant report

Variant	rs58485721
Chromosome Location	chr8:50980869-50980870
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs57833415	1.00[AFR][1000 genomes]
rs57952543	1.00[AFR][1000 genomes]
rs58997754	1.00[AFR][1000 genomes]
rs59032553	0.86[AFR][1000 genomes]
rs59699839	1.00[AFR][1000 genomes]
rs61123961	1.00[AFR][1000 genomes]
rs61619561	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3353749	chr8:50530807-51139242	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv916392	chr8:50827638-51395140	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1022115	chr8:50864995-50981944	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv2759613	chr8:50873293-51137995	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2758621	chr8:50886593-51137995	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv611312	chr8:50930075-51011122	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv890871	chr8:50936174-51040022	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv890872	chr8:50946702-51032813	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50979200-50981400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:50979200-50983400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr8:50979600-50981400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:50979600-50981800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr8:50979600-50982600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:50979800-50981800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr8:50979800-50982600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr8:50980200-50981000	Enhancers	HMEC	breast
9	chr8:50980200-50981200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:50980200-50983400	Enhancers	Brain Germinal Matrix	brain
11	chr8:50980400-50981000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr8:50980400-50981200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr8:50980400-50982200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:50980400-50982600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:50980600-50981000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:50980600-50981400	Enhancers	HUES64 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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