Variant report

Variant	rs72714189
Chromosome Location	chr1:171266804-171266805
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10798305	0.81[ASN][1000 genomes]
rs10912698	0.90[EUR][1000 genomes]
rs10912718	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10912745	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10912756	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12038209	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12040753	0.90[EUR][1000 genomes]
rs12044884	0.90[EUR][1000 genomes]
rs12049309	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12118836	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12124080	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127128	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12954	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16864339	0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2076320	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2421804	0.90[EUR][1000 genomes]
rs3766654	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6660565	0.81[ASN][1000 genomes]
rs732005	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv10193	chr1:171128845-171414611	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv831882	chr1:171166224-171326083	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171264600-171269200	Enhancers	H1 Cell Line	embryonic stem cell
2	chr1:171264600-171269400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr1:171265000-171269000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr1:171265200-171269200	Enhancers	H9 Cell Line	embryonic stem cell
5	chr1:171265400-171270400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr1:171265600-171267400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr1:171265600-171267600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr1:171265800-171267600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr1:171266000-171269200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr1:171266200-171269200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:171266200-171269200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:171266600-171268000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr1:171266600-171279800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:171266600-171288400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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

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