Variant report

Variant	rs71596747
Chromosome Location	chr5:5253580-5253581
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13178178	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35371984	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35622327	0.81[EUR][1000 genomes]
rs35648750	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66543945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs68048667	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71596746	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024784	chr5:4980979-5391231	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1032719	chr5:5102763-5387406	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537621	chr5:5102763-5387406	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5185200-5262800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:5224400-5253800	Weak transcription	Fetal Kidney	kidney
3	chr5:5230200-5255400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:5236800-5255400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr5:5239400-5263000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:5240800-5263000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:5242400-5253800	Weak transcription	Pancreas	Pancrea
8	chr5:5244600-5266400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr5:5246600-5253800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:5252600-5253800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr5:5252800-5254200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
12	chr5:5253000-5253800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:5253400-5254200	ZNF genes & repeats	Ovary	ovary

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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