Variant report

Variant	rs72914818
Chromosome Location	chr18:44787185-44787186
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:44778191..44780835-chr18:44785176..44787814,2	K562	blood:
2	chr18:44778191..44780835-chr18:44785049..44787814,3	K562	blood:
3	chr18:44779645..44782742-chr18:44785627..44788634,4	MCF-7	breast:
4	chr18:44624367..44626651-chr18:44785801..44788433,2	K562	blood:
5	chr18:44623688..44626651-chr18:44786266..44788433,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs16950662	1.00[ASN][1000 genomes]
rs16950719	1.00[ASN][1000 genomes]
rs16950736	1.00[ASN][1000 genomes]
rs16950741	1.00[ASN][1000 genomes]
rs16950744	1.00[ASN][1000 genomes]
rs16950754	1.00[ASN][1000 genomes]
rs16950767	1.00[ASN][1000 genomes]
rs16950777	1.00[ASN][1000 genomes]
rs55704228	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55977647	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56014831	1.00[ASN][1000 genomes]
rs72906489	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72906494	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72906498	1.00[ASN][1000 genomes]
rs72908505	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72908507	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72908508	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72908518	1.00[ASN][1000 genomes]
rs72908529	1.00[ASN][1000 genomes]
rs72908533	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72908537	1.00[ASN][1000 genomes]
rs72908538	1.00[ASN][1000 genomes]
rs72908542	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72908558	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72913164	0.93[EUR][1000 genomes]
rs72913166	0.93[EUR][1000 genomes]
rs72913178	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913180	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913186	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913187	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72914803	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72914805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72914809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72914811	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72914814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72914820	0.93[EUR][1000 genomes]
rs72914823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72914829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72914834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72914837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72914843	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72914847	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72914848	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72914856	1.00[ASN][1000 genomes]
rs72914857	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72914862	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8095903	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv828226	chr18:44762014-44801196	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv1794744	chr18:44774077-44788908	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv1797427	chr18:44774077-44788908	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv1835264	chr18:44774077-44788908	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv1839014	chr18:44774077-44788908	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv1819372	chr18:44774673-44799515	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44786000-44787400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:44786200-44787400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
3	chr18:44786400-44789200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr18:44786600-44787400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
5	chr18:44787000-44791000	Bivalent Enhancer	Brain Germinal Matrix	brain

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