Variant report

Variant	rs55721266
Chromosome Location	chr15:45674096-45674097
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45672679..45674730-chr15:45674814..45676370,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10152337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10152697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12324848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1288861	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16942066	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1706799	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17533116	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17533716	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17535381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17537244	0.96[ASN][1000 genomes]
rs17618294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433602	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2453546	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2461706	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2486287	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2668746	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55904415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56267974	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56273246	0.96[ASN][1000 genomes]
rs56306977	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56327050	0.96[ASN][1000 genomes]
rs56937414	0.93[ASN][1000 genomes]
rs56967490	0.96[ASN][1000 genomes]
rs57369693	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57419781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61301536	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72709081	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72709084	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72709088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72709089	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72709092	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72711253	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72711255	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72711259	0.96[ASN][1000 genomes]
rs9972405	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9972498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9972528	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];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	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak 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 miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv869616	chr15:45401411-45736209	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv469721	chr15:45608881-45788002	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv482380	chr15:45608881-45788002	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs55721266	CTD-2651B20.4	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45669400-45675200	Weak transcription	HepG2	liver
2	chr15:45671200-45678200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr15:45671200-45678600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr15:45671200-45678800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr15:45671200-45682400	Weak transcription	Small Intestine	intestine
6	chr15:45671400-45678400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr15:45671400-45678600	Weak transcription	Psoas Muscle	Psoas
8	chr15:45671400-45678600	Weak transcription	Right Atrium	heart
9	chr15:45672000-45675200	Weak transcription	Brain Angular Gyrus	brain
10	chr15:45672000-45675200	Weak transcription	Fetal Intestine Small	intestine
11	chr15:45672000-45676600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr15:45672000-45676600	Weak transcription	Ovary	ovary
13	chr15:45672000-45678400	Weak transcription	Brain Hippocampus Middle	brain
14	chr15:45672000-45678600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr15:45672000-45678600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr15:45672000-45678800	Weak transcription	Brain Substantia Nigra	brain
17	chr15:45672200-45676600	Weak transcription	Pancreas	Pancrea
18	chr15:45673600-45676400	Weak transcription	Fetal Intestine Large	intestine
19	chr15:45673600-45677000	Weak transcription	Liver	Liver

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