Variant report

Variant	rs71596745
Chromosome Location	chr5:5242685-5242686
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:5209808..5212530-chr5:5241686..5243294,2	K562	blood:
2	chr5:5236191..5238168-chr5:5240454..5243038,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs13157176	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13160241	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13171408	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13174653	1.00[ASN][1000 genomes]
rs2081851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34149058	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34595042	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34662621	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34901924	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35371984	0.86[ASN][1000 genomes]
rs35643140	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35648750	0.86[ASN][1000 genomes]
rs35680269	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36037750	1.00[ASN][1000 genomes]
rs61585346	0.84[AFR][1000 genomes]
rs66543945	0.86[ASN][1000 genomes]
rs68048667	0.86[ASN][1000 genomes]
rs71596744	1.00[EUR][1000 genomes];0.87[ASN][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:22 , 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	chr5:5200200-5252800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr5:5222200-5244000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr5:5224400-5253800	Weak transcription	Fetal Kidney	kidney
5	chr5:5230200-5255400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:5232000-5245400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:5234600-5252600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:5236800-5255400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr5:5237200-5242800	Strong transcription	Ovary	ovary
10	chr5:5238000-5250200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:5238400-5246000	Weak transcription	Fetal Muscle Leg	muscle
12	chr5:5239000-5246600	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:5239200-5245400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:5239400-5263000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:5240200-5245400	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:5240800-5243800	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr5:5240800-5247400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr5:5240800-5263000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr5:5241400-5248600	Strong transcription	NH-A	brain
20	chr5:5242400-5253800	Weak transcription	Pancreas	Pancrea
21	chr5:5242600-5243000	Enhancers	Fetal Lung	lung
22	chr5:5242600-5250000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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