Variant report

Variant	rs1145084
Chromosome Location	chr15:45675440-45675441
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: 45 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1049518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1145076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1145077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1145080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1145086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1145089	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1145093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1145097	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1153845	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1153855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1153857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1153860	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1153862	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11636114	0.88[AMR][1000 genomes]
rs11855414	0.90[AMR][1000 genomes]
rs12909409	0.90[AMR][1000 genomes]
rs12910764	0.90[AMR][1000 genomes]
rs1346267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1426932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1547487	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1617634	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1617984	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1719245	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1719246	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2002035	0.86[AMR][1000 genomes]
rs2015295	0.85[AMR][1000 genomes]
rs2433601	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2433616	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2453533	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2461700	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2467853	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2467865	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2486274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2486288	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2899375	0.88[AMR][1000 genomes]
rs35861938	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs872192	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9921008	0.86[AMR][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:14)

SNP	Gene	Cis/trans	Tissue	Source
rs1145084	CTD-2651B20.3	cis	Esophagus Muscularis	GTEx
rs1145084	CTD-2651B20.3	cis	lung	GTEx
rs1145084	SPATA5L1	Cis_1M	lymphoblastoid	RTeQTL
rs1145084	CTD-2651B20.3	cis	Heart Left Ventricle	GTEx
rs1145084	CTD-2651B20.3	cis	Nerve Tibial	GTEx
rs1145084	CTD-2651B20.4	cis	Nerve Tibial	GTEx
rs1145084	CTD-2651B20.3	cis	Muscle Skeletal	GTEx
rs1145084	CTD-2651B20.3	cis	Skin Sun Exposed Lower leg	GTEx
rs1145084	CTD-2651B20.3	cis	Adipose Subcutaneous	GTEx
rs1145084	CTD-2651B20.3	cis	Thyroid	GTEx
rs1145084	CTD-2651B20.4	cis	Artery Tibial	GTEx
rs1145084	CTD-2651B20.3	cis	Artery Aorta	GTEx
rs1145084	CTD-2651B20.3	cis	Artery Tibial	GTEx
rs1145084	CTD-2651B20.4	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45671200-45678200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr15:45671200-45678600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr15:45671200-45678800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr15:45671200-45682400	Weak transcription	Small Intestine	intestine
5	chr15:45671400-45678400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr15:45671400-45678600	Weak transcription	Psoas Muscle	Psoas
7	chr15:45671400-45678600	Weak transcription	Right Atrium	heart
8	chr15:45672000-45676600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr15:45672000-45676600	Weak transcription	Ovary	ovary
10	chr15:45672000-45678400	Weak transcription	Brain Hippocampus Middle	brain
11	chr15:45672000-45678600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr15:45672000-45678600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr15:45672000-45678800	Weak transcription	Brain Substantia Nigra	brain
14	chr15:45672200-45676600	Weak transcription	Pancreas	Pancrea
15	chr15:45673600-45676400	Weak transcription	Fetal Intestine Large	intestine
16	chr15:45673600-45677000	Weak transcription	Liver	Liver
17	chr15:45675200-45676600	Weak transcription	Right Ventricle	heart
18	chr15:45675200-45678600	Enhancers	HepG2	liver
19	chr15:45675400-45675800	Weak transcription	Fetal Intestine Small	intestine
20	chr15:45675400-45678400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr15:45675400-45678600	Weak transcription	Brain Angular Gyrus	brain

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