Variant report

Variant	rs72914805
Chromosome Location	chr18:44778768-44778769
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr18:44777520-44779981	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:44778191..44780835-chr18:44785176..44787814,2	K562	blood:
2	chr18:44778191..44780835-chr18:44785049..44787814,3	K562	blood:

Variant related genes	Relation type
SKOR2	TF binding region

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

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]
rs72909289	0.81[EUR][1000 genomes]
rs72911203	0.81[EUR][1000 genomes]
rs72911205	0.81[EUR][1000 genomes]
rs72911207	0.81[EUR][1000 genomes]
rs72913164	1.00[EUR][1000 genomes]
rs72913166	1.00[EUR][1000 genomes]
rs72913178	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913180	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913187	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72914803	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72914809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72914811	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72914814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72914818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72914820	0.87[EUR][1000 genomes]
rs72914823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72914829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72914834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72914837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72914843	1.00[AMR][1000 genomes];0.93[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	1.00[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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44778400-44779600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
2	chr18:44778400-44780600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
3	chr18:44778400-44780800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
4	chr18:44778400-44781000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
5	chr18:44778400-44781400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
6	chr18:44778600-44779600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell

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