Variant report

Variant	rs172050
Chromosome Location	chr5:5076561-5076562
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10077722	0.86[AMR][1000 genomes]
rs1021761	0.90[EUR][1000 genomes]
rs1021762	0.90[EUR][1000 genomes]
rs1021763	0.90[EUR][1000 genomes]
rs10475281	0.81[AMR][1000 genomes]
rs1158328	0.90[EUR][1000 genomes]
rs1351287	0.90[EUR][1000 genomes]
rs1382896	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1382898	0.90[EUR][1000 genomes]
rs1501638	0.90[EUR][1000 genomes]
rs1501639	0.90[EUR][1000 genomes]
rs156252	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs172016	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1812836	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1818107	0.90[EUR][1000 genomes]
rs182116	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1842240	0.82[AMR][1000 genomes]
rs2008213	0.90[EUR][1000 genomes]
rs2008214	0.90[EUR][1000 genomes]
rs2015936	0.90[EUR][1000 genomes]
rs2015937	0.90[EUR][1000 genomes]
rs2619809	0.90[EUR][1000 genomes]
rs2619814	0.90[EUR][1000 genomes]
rs2652053	0.90[EUR][1000 genomes]
rs2652054	0.90[EUR][1000 genomes]
rs2652055	0.87[EUR][1000 genomes]
rs2652057	0.90[EUR][1000 genomes]
rs2652058	0.90[EUR][1000 genomes]
rs2652059	0.90[EUR][1000 genomes]
rs2652060	0.90[EUR][1000 genomes]
rs270628	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs270629	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs270631	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs270632	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs270633	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs270634	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs270635	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs270636	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs270637	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs270638	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs270639	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs270641	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs270644	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs272183	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs272202	0.90[EUR][1000 genomes]
rs272203	0.90[EUR][1000 genomes]
rs272204	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs899552	0.90[EUR][1000 genomes]
rs899553	0.90[EUR][1000 genomes]
rs899554	0.90[EUR][1000 genomes]
rs899555	0.90[EUR][1000 genomes]
rs899556	0.90[EUR][1000 genomes]
rs905153	0.90[EUR][1000 genomes]
rs905154	0.90[EUR][1000 genomes]
rs970529	0.90[EUR][1000 genomes]
rs977341	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021653	chr5:4932992-5201887	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2757980	chr5:4980876-5184615	Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2759318	chr5:4980876-5184615	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	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
5	nsv830194	chr5:5002459-5187667	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5072000-5078200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:5075600-5079000	Enhancers	H1 Cell Line	embryonic stem cell
3	chr5:5075600-5079400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr5:5075800-5078200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr5:5076000-5078400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:5076000-5079400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr5:5076000-5079400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:5076200-5076800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:5076200-5077200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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