Variant report

Variant	rs59889118
Chromosome Location	chr15:45618730-45618731
allele	A/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	USF1	chr15:45618524-45618790	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr15:45618660-45618983	H1-hESC	embryonic stem cell:	n/a	n/a
3	POU5F1	chr15:45618426-45618765	H1-hESC	embryonic stem cell:	n/a	n/a
4	USF1	chr15:45618531-45618854	H1-hESC	embryonic stem cell:	n/a	n/a
5	SP1	chr15:45618577-45618926	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45618068..45621041-chr15:45630551..45632490,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235390	TF binding region

Extended variants
information (count: 128 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs10444821	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1049503	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1049508	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10519021	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10519022	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11070453	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11070454	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11070456	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11070457	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1145074	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1145078	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1145079	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1145081	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1145085	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1145091	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1153847	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1153849	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1153854	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1153858	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11852800	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11855527	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11858495	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12101539	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12437840	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12437887	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12439274	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12439575	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12440038	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12441971	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12591058	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12593230	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12593370	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12593371	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12593402	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12594857	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12595087	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12595153	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1288775	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12909158	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1346266	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1346268	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1554521	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1613559	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1618874	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16942000	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16942568	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16943246	0.81[AMR][1000 genomes]
rs1719247	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1820518	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1890565	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1980288	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2056493	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2066090	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2114501	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2172874	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2433611	0.83[EUR][1000 genomes]
rs2453541	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2461701	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2467854	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2467858	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2467864	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2486272	0.82[EUR][1000 genomes]
rs2668747	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28605551	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28679834	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759899	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3809472	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4271549	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4395020	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4534782	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4572329	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4625670	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4627277	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4774577	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4774578	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4774579	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4774580	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4775895	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4775906	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4775907	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4775909	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4775911	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4775937	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55885762	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56669689	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56806728	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56850226	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60476496	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61365925	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61524473	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs66528868	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66714503	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66939267	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67045941	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67461176	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67744121	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67831559	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs68087211	0.85[ASN][1000 genomes]
rs7163720	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7164139	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7164602	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7167900	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7168414	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7169587	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7169818	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7171163	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7171577	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7179743	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7181167	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7182300	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7182723	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7183946	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72623915	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7402632	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7402650	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7494956	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8032904	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8038342	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8042786	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9783731	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9788780	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	nsv977713	chr15:45611707-45620772	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs59889118	CTD-2651B20.3	cis	lung	GTEx
rs59889118	GATM	cis	Esophagus Mucosa	GTEx
rs59889118	SPATA5L1	cis	Whole Blood	GTEx
rs59889118	CTD-2651B20.3	cis	Thyroid	GTEx
rs59889118	CTD-2651B20.4	cis	Nerve Tibial	GTEx
rs59889118	SPATA5L1	Cis_1M	lymphoblastoid	RTeQTL
rs59889118	CTD-2651B20.3	cis	Muscle Skeletal	GTEx
rs59889118	SPATA5L1	cis	Thyroid	GTEx
rs59889118	GATM	cis	Muscle Skeletal	GTEx
rs59889118	CTD-2651B20.3	cis	Artery Tibial	GTEx
rs59889118	CTD-2651B20.3	cis	Nerve Tibial	GTEx
rs59889118	CTD-2651B20.3	cis	Adipose Subcutaneous	GTEx
rs59889118	CTD-2651B20.3	cis	Esophagus Muscularis	GTEx
rs59889118	CTD-2651B20.4	cis	Artery Tibial	GTEx
rs59889118	SPATA5L1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45613600-45622000	Weak transcription	Pancreas	Pancrea
2	chr15:45614200-45619000	Weak transcription	Fetal Brain Female	brain
3	chr15:45616000-45624800	Weak transcription	Gastric	stomach
4	chr15:45616200-45625000	Weak transcription	Fetal Intestine Large	intestine
5	chr15:45616200-45625600	Weak transcription	Fetal Intestine Small	intestine
6	chr15:45617200-45618800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr15:45617200-45621200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr15:45617600-45618800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr15:45617800-45621600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr15:45618000-45618800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:45618000-45619000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr15:45618000-45619400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr15:45618200-45619600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr15:45618200-45619600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr15:45618200-45619600	Enhancers	Fetal Brain Male	brain
16	chr15:45618400-45619200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr15:45618600-45618800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr15:45618600-45618800	Enhancers	Brain Angular Gyrus	brain
19	chr15:45618600-45618800	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr15:45618600-45618800	Enhancers	Brain Substantia Nigra	brain
21	chr15:45618600-45619000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr15:45618600-45619200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr15:45618600-45619200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr15:45618600-45619200	Enhancers	H9 Cell Line	embryonic stem cell
25	chr15:45618600-45619200	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr15:45618600-45619400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr15:45618600-45619400	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr15:45618600-45619600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr15:45618600-45619600	Flanking Active TSS	Brain Cingulate Gyrus	brain
30	chr15:45618600-45619800	Enhancers	Brain Germinal Matrix	brain

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