Variant report

Variant	rs34893715
Chromosome Location	chr15:76560265-76560266
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11072580	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12438741	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12439484	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12442266	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12592501	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12595211	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12595717	0.94[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs12595738	0.83[AFR][1000 genomes]
rs12898415	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12901160	0.81[ASN][1000 genomes]
rs12907668	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12908334	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12909718	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12911035	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12913096	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12916022	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1474117	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17361504	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2139190	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2176623	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2456045	0.81[EUR][1000 genomes]
rs2469541	0.90[ASN][1000 genomes]
rs2469542	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2469565	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2469566	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2959850	0.84[EUR][1000 genomes]
rs2959853	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34213321	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35707798	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3759853	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4381566	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4886484	0.82[ASN][1000 genomes]
rs4886485	0.85[ASN][1000 genomes]
rs67306087	0.91[AFR][1000 genomes]
rs7174889	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs869452	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs959991	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833057	chr15:76367848-76585868	ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv527608	chr15:76530267-76562738	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs34893715	SCAPER	cis	lung	GTEx
rs34893715	SCAPER	cis	Artery Tibial	GTEx

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76550400-76563000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr15:76550600-76560400	ZNF genes & repeats	Fetal Intestine Large	intestine
3	chr15:76550600-76562600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
4	chr15:76550600-76563000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
5	chr15:76550600-76563200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:76550600-76563400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr15:76550600-76563400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr15:76550600-76563600	ZNF genes & repeats	Fetal Intestine Small	intestine
9	chr15:76550600-76564000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
10	chr15:76550600-76578400	Strong transcription	Liver	Liver
11	chr15:76553400-76562800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:76553400-76563200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
13	chr15:76553600-76560800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
14	chr15:76553600-76561000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
15	chr15:76553600-76563200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr15:76553800-76562600	ZNF genes & repeats	Primary B cells from cord blood	blood
17	chr15:76553800-76564200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr15:76554000-76560400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
19	chr15:76554000-76563800	ZNF genes & repeats	Dnd41	blood
20	chr15:76554200-76561600	ZNF genes & repeats	Fetal Muscle Leg	muscle
21	chr15:76554200-76562600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
22	chr15:76554200-76562600	ZNF genes & repeats	Fetal Lung	lung
23	chr15:76554600-76560600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
24	chr15:76554600-76563000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
25	chr15:76555000-76560600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
26	chr15:76555000-76562600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr15:76555000-76563200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr15:76555200-76561400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
29	chr15:76555200-76562800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr15:76555400-76561000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
31	chr15:76555800-76563200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr15:76555800-76564200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr15:76555800-76564400	Weak transcription	Right Ventricle	heart
34	chr15:76555800-76567200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr15:76555800-76574200	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr15:76555800-76578800	Weak transcription	Psoas Muscle	Psoas
37	chr15:76555800-76579000	Weak transcription	NHLF	lung
38	chr15:76555800-76586000	Weak transcription	Stomach Mucosa	stomach
39	chr15:76556000-76560600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr15:76556000-76560600	Weak transcription	A549	lung
41	chr15:76556000-76563600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr15:76556000-76564000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr15:76556200-76562000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr15:76556200-76563200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr15:76556200-76565200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr15:76556200-76569800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr15:76556400-76581400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr15:76556800-76560600	Weak transcription	Pancreas	Pancrea
49	chr15:76556800-76594600	Weak transcription	Esophagus	oesophagus
50	chr15:76557000-76560600	Weak transcription	Placenta Amnion	Placenta Amnion

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