Variant report

Variant	rs12454525
Chromosome Location	chr18:14933502-14933503
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:14921268..14923858-chr18:14933447..14934992,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1013799	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11661338	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12455763	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12457126	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1340626	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1356567	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1356568	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1356570	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1518581	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1557006	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1615749	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1713876	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1770767	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2139097	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2460079	0.87[ASN][1000 genomes]
rs2460080	0.87[ASN][1000 genomes]
rs2487251	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2487255	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2487256	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2487257	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2487258	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2487259	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2487261	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34138197	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58206777	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs699306	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs785979	0.87[ASN][1000 genomes]
rs785981	0.86[ASN][1000 genomes]
rs785982	0.86[ASN][1000 genomes]
rs785984	0.86[ASN][1000 genomes]
rs785985	0.87[ASN][1000 genomes]
rs785986	0.87[ASN][1000 genomes]
rs785989	0.86[ASN][1000 genomes]
rs785990	0.86[ASN][1000 genomes]
rs785993	0.86[ASN][1000 genomes]
rs785997	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs786000	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs786002	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs786003	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs786004	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs786006	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs786007	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs786009	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs786010	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs786011	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs786012	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs786013	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs786016	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs786017	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs786018	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs813077	0.87[ASN][1000 genomes]
rs878185	0.95[EUR][1000 genomes];0.92[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	nsv916419	chr18:14418522-15165372	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
2	esv2751771	chr18:14704694-15106727	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv909434	chr18:14841828-15149366	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv576542	chr18:14913292-14978677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv33381	chr18:14929347-15052868	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv960220	chr18:14931771-14935356	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14932600-14933600	Enhancers	Fetal Intestine Large	intestine
2	chr18:14933000-14935600	Enhancers	Rectal Mucosa Donor 29	rectum
3	chr18:14933200-14934800	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr18:14933200-14937200	Enhancers	Duodenum Mucosa	Duodenum
5	chr18:14933200-14937200	ZNF genes & repeats	Fetal Intestine Small	intestine
6	chr18:14933200-14937800	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr18:14933400-14933600	Flanking Active TSS	Colonic Mucosa	Colon
8	chr18:14933400-14934000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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