Variant report

Variant	rs74023936
Chromosome Location	chr15:75362084-75362085
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12591175	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3816261	0.90[ASN][1000 genomes]
rs59303424	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6495146	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6495148	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7166105	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7177109	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs72475969	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73432941	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73438554	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs73438569	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74023935	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8024931	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8033125	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8038365	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8039433	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569993	chr15:75242155-75483752	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
2	nsv457205	chr15:75336729-75447773	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv569994	chr15:75336729-75447773	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs74023936	SCAMP5	cis	Esophagus Mucosa	GTEx
rs74023936	SCAMP5	cis	Artery Tibial	GTEx
rs74023936	SCAMP5	cis	Thyroid	GTEx

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75342600-75364800	Weak transcription	Primary T cells from cord blood	blood
2	chr15:75347000-75364000	Weak transcription	Brain Substantia Nigra	brain
3	chr15:75356800-75366600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr15:75357000-75363200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr15:75357000-75365400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr15:75357400-75362200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr15:75357600-75363200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr15:75358400-75368600	Weak transcription	Aorta	Aorta
9	chr15:75359000-75363000	Enhancers	HepG2	liver
10	chr15:75359200-75366200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr15:75359600-75364400	Enhancers	GM12878-XiMat	blood
12	chr15:75360000-75370000	Weak transcription	Right Atrium	heart
13	chr15:75360600-75362200	Enhancers	Spleen	Spleen
14	chr15:75360600-75364800	Enhancers	Primary B cells from peripheral blood	blood
15	chr15:75360600-75366600	Enhancers	Primary B cells from cord blood	blood
16	chr15:75360800-75368200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr15:75361000-75362800	Enhancers	Primary hematopoietic stem cells	blood
18	chr15:75361400-75362400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr15:75361400-75362400	Enhancers	Duodenum Mucosa	Duodenum
20	chr15:75361400-75362600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr15:75361400-75363600	Enhancers	Fetal Thymus	thymus
22	chr15:75361600-75362400	Enhancers	Adipose Nuclei	Adipose
23	chr15:75361600-75362400	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr15:75361600-75362800	Enhancers	Brain Hippocampus Middle	brain
25	chr15:75361800-75362200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr15:75361800-75362200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr15:75361800-75365200	Weak transcription	Placenta	Placenta
28	chr15:75361800-75366800	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr15:75362000-75362200	Enhancers	K562	blood
30	chr15:75362000-75362400	Enhancers	Fetal Muscle Leg	muscle
31	chr15:75362000-75363000	Weak transcription	Lung	lung

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