Variant report

Variant	rs8039063
Chromosome Location	chr15:76580527-76580528
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:76575843..76577535-chr15:76579301..76581844,2	MCF-7	breast:
2	chr15:76580263..76582606-chr15:76602066..76604803,3	K562	blood:
3	chr15:76542765..76545706-chr15:76579953..76582422,2	K562	blood:
4	chr15:76579019..76580557-chr15:76600815..76603366,2	K562	blood:

Variant related genes	Relation type
ENSG00000140374	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs11072576	0.90[CEU][hapmap];0.94[CHB][hapmap];0.86[EUR][1000 genomes]
rs11072577	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11072578	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11072579	0.95[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11072583	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11072585	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11072587	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11629459	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11631690	0.81[EUR][1000 genomes]
rs11631764	0.82[EUR][1000 genomes]
rs11631874	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11633405	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11634019	0.82[CEU][hapmap]
rs11634060	0.91[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11634472	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11634796	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11636278	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11636851	0.95[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11637855	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12050896	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12443449	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12908334	0.82[ASN][1000 genomes]
rs16968083	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17361504	0.80[ASN][1000 genomes]
rs1850722	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1875888	0.90[CEU][hapmap];0.84[CHB][hapmap];0.84[JPT][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2007928	0.86[EUR][1000 genomes]
rs2016734	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2056251	0.89[ASN][1000 genomes]
rs2404974	0.91[CEU][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2456050	0.87[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes]
rs2456057	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2456071	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2469210	0.98[ASN][1000 genomes]
rs2469548	0.95[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.85[JPT][hapmap];0.96[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2469565	0.82[CHB][hapmap]
rs2938697	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2959850	0.81[CHB][hapmap]
rs35831705	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3759853	0.80[ASN][1000 genomes]
rs3784449	0.92[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3898352	0.95[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3915459	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3915460	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3927264	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3958426	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3991792	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3991793	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3991794	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4592616	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4886486	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4886487	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4886488	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4886777	0.87[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.88[TSI][hapmap];0.84[EUR][1000 genomes]
rs4886779	0.91[CEU][hapmap];0.85[CHB][hapmap];0.91[CHD][hapmap];0.84[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4886781	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4886783	0.95[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.85[JPT][hapmap];0.96[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4886784	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4886787	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4886788	0.95[CEU][hapmap];0.90[CHB][hapmap]
rs4886789	0.92[ASW][hapmap];0.95[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.95[MKK][hapmap];0.96[TSI][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4886791	0.91[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5012144	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55794488	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55805818	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56737606	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57182285	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60017340	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60290059	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60371615	0.86[EUR][1000 genomes]
rs60561507	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61018254	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61275737	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61300240	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62027018	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62027047	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62027048	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62030232	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62030245	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62030246	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6495197	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7177923	0.95[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7179750	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7180462	0.92[ASW][hapmap];0.95[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8028504	0.92[ASW][hapmap];0.95[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.97[MKK][hapmap];0.96[TSI][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8029637	0.92[ASW][hapmap];0.95[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8030454	0.86[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8033494	1.00[ASW][hapmap];0.95[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs870295	0.91[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.81[JPT][hapmap];0.96[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs879625	0.91[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs883993	0.92[ASW][hapmap];0.95[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.85[JPT][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs937732	0.92[ASW][hapmap];0.91[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];0.81[JPT][hapmap];0.97[LWK][hapmap];0.90[MKK][hapmap];0.96[TSI][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs937733	0.91[CHB][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs8039063	SCAPER	cis	Artery Tibial	GTEx
rs8039063	SCAPER	cis	Whole Blood	GTEx
rs8039063	ISL2	cis	lymphoblastoid	seeQTL
rs8039063	SCAPER	cis	Thyroid	GTEx
rs8039063	ISL2	Cis_1M	lymphoblastoid	RTeQTL
rs8039063	ETFA	cis	lymphoblastoid	seeQTL
rs8039063	SCAPER	Cis_1M	lymphoblastoid	RTeQTL
rs8039063	RP11-593F23.1	cis	Skin Sun Exposed Lower leg	GTEx
rs8039063	SCAPER	cis	lung	GTEx
rs8039063	ISL2	cis	Whole Blood	GTEx

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76555800-76586000	Weak transcription	Stomach Mucosa	stomach
2	chr15:76556400-76581400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr15:76556800-76594600	Weak transcription	Esophagus	oesophagus
4	chr15:76557000-76582800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr15:76558000-76603000	Weak transcription	Aorta	Aorta
6	chr15:76560000-76582400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr15:76561000-76587600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr15:76562000-76591600	Weak transcription	Small Intestine	intestine
9	chr15:76562600-76586000	Weak transcription	Brain Angular Gyrus	brain
10	chr15:76562800-76580600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:76563000-76581800	Weak transcription	Fetal Brain Male	brain
12	chr15:76563000-76586400	Weak transcription	Fetal Heart	heart
13	chr15:76563200-76590800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr15:76564200-76580600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr15:76565200-76581200	Strong transcription	HepG2	liver
16	chr15:76565200-76581400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr15:76567600-76581800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr15:76568800-76581600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr15:76569000-76580600	Strong transcription	Osteobl	bone
20	chr15:76569000-76585200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr15:76569000-76586400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr15:76569200-76581400	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr15:76569200-76581600	Strong transcription	Fetal Muscle Trunk	muscle
24	chr15:76569400-76583600	Strong transcription	Hela-S3	cervix
25	chr15:76569400-76585000	Strong transcription	Fetal Intestine Large	intestine
26	chr15:76569800-76591600	Weak transcription	Spleen	Spleen
27	chr15:76570800-76581400	Weak transcription	Fetal Brain Female	brain
28	chr15:76571200-76586400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr15:76572000-76581600	Strong transcription	Placenta	Placenta
30	chr15:76572600-76585800	Weak transcription	Brain Anterior Caudate	brain
31	chr15:76573200-76592200	Weak transcription	Fetal Kidney	kidney
32	chr15:76573200-76593200	Weak transcription	Right Ventricle	heart
33	chr15:76574600-76585200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr15:76574800-76582000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr15:76574800-76590600	Weak transcription	Ovary	ovary
36	chr15:76574800-76591600	Weak transcription	Gastric	stomach
37	chr15:76574800-76591600	Weak transcription	Lung	lung
38	chr15:76574800-76601400	Weak transcription	Pancreas	Pancrea
39	chr15:76574800-76602000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr15:76575000-76586000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr15:76575800-76585200	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr15:76575800-76585200	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr15:76576000-76585200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr15:76576000-76585600	Weak transcription	HUVEC	blood vessel
45	chr15:76576000-76585800	Weak transcription	Brain Hippocampus Middle	brain
46	chr15:76576200-76602800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr15:76576400-76586200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr15:76576600-76585800	Weak transcription	NH-A	brain
49	chr15:76577200-76580800	Strong transcription	Colon Smooth Muscle	Colon
50	chr15:76577400-76585400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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