Variant report

Variant	rs11636851
Chromosome Location	chr15:76550973-76550974
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:76548818..76551250-chr15:76556678..76559451,2	MCF-7	breast:

Extended variants
information (count: 123 )
Associated
traits (count: 10 )

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

rs_ID	r²[population]
rs11072576	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11072577	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11072578	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11072579	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11072580	0.87[CHB][hapmap]
rs11072583	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11072585	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11072587	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11629459	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11631690	0.87[EUR][1000 genomes]
rs11631764	0.89[EUR][1000 genomes]
rs11631874	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11633405	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11634019	0.82[CEU][hapmap]
rs11634060	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11634472	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11634796	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11636278	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11637473	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11637855	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12050813	0.81[ASN][1000 genomes]
rs12050896	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12439484	0.86[CHB][hapmap]
rs12442266	0.87[CHB][hapmap]
rs12443449	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12592501	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs12595211	0.86[CHB][hapmap]
rs12595717	0.81[CHB][hapmap]
rs12898415	0.87[CHB][hapmap]
rs12901160	0.82[CHB][hapmap]
rs12902506	0.86[CHB][hapmap]
rs12907668	0.86[CHB][hapmap]
rs12908334	0.86[CHB][hapmap]
rs12909718	0.86[CHB][hapmap]
rs12913096	0.86[CHB][hapmap]
rs1474117	0.87[CHB][hapmap]
rs16968083	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17361504	0.86[CHB][hapmap]
rs1850722	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1875887	0.85[ASN][1000 genomes]
rs1875888	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2007928	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2016734	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2139190	0.81[CHB][hapmap];0.82[ASN][1000 genomes]
rs2176623	0.86[CHB][hapmap]
rs2404974	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2456046	0.86[CHB][hapmap]
rs2456049	0.87[ASN][1000 genomes]
rs2456050	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2456057	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2456071	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2469210	0.84[ASN][1000 genomes]
rs2469541	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs2469542	0.85[CHB][hapmap]
rs2469548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2469565	0.89[CHB][hapmap]
rs2938697	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2959850	0.91[CHB][hapmap]
rs2959853	0.86[CHB][hapmap]
rs35831705	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759853	0.87[CHB][hapmap]
rs3784449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3898352	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3915459	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3915460	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3927264	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3958426	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3991792	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3991793	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3991794	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4592616	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4886484	0.87[CHB][hapmap]
rs4886485	0.82[CHB][hapmap]
rs4886486	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4886487	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4886488	0.90[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4886777	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4886779	0.95[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4886780	0.87[AMR][1000 genomes]
rs4886781	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4886783	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4886784	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4886787	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.80[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4886788	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs4886789	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4886791	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5012144	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55794488	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55805818	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56737606	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57182285	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60017340	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60290059	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60371615	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60561507	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61018254	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61275737	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61300240	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62027018	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62027047	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62027048	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62030232	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62030245	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62030246	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6495197	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7174889	0.86[CHB][hapmap]
rs7177923	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7179750	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7180462	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8028504	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8029637	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8030454	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8033494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8039063	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]
rs869452	0.86[CHB][hapmap]
rs870295	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs879625	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs883993	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs937732	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs937733	1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs959991	0.86[CHB][hapmap]

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:10)

SNP	Gene	Cis/trans	Tissue	Source
rs11636851	SCAPER	Cis_1M	lymphoblastoid	RTeQTL
rs11636851	RP11-593F23.1	cis	Skin Sun Exposed Lower leg	GTEx
rs11636851	ETFA	cis	multi-tissue	Pritchard
rs11636851	ZNF291	cis	uninvolved skin	skin_eQTL
rs11636851	ZNF291	cis	normal skin	skin_eQTL
rs11636851	SCAPER	cis	lung	GTEx
rs11636851	SCAPER	cis	Thyroid	GTEx
rs11636851	ISL2	Cis_1M	lymphoblastoid	RTeQTL
rs11636851	SCAPER	cis	Whole Blood	GTEx
rs11636851	ZNF291	cis	multi-tissue	Pritchard

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76503600-76551400	Weak transcription	Small Intestine	intestine
2	chr15:76507200-76551400	Weak transcription	Brain Hippocampus Middle	brain
3	chr15:76510200-76555400	Weak transcription	Psoas Muscle	Psoas
4	chr15:76510400-76555000	Weak transcription	NH-A	brain
5	chr15:76513200-76559400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr15:76513800-76551400	Weak transcription	Stomach Mucosa	stomach
7	chr15:76517200-76551800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr15:76517400-76559400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr15:76517600-76551200	Weak transcription	Right Ventricle	heart
10	chr15:76517600-76551400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr15:76517600-76553800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr15:76521400-76551600	Weak transcription	Left Ventricle	heart
13	chr15:76522400-76554400	Weak transcription	Fetal Heart	heart
14	chr15:76523800-76551200	Weak transcription	Fetal Thymus	thymus
15	chr15:76523800-76551800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr15:76524000-76551600	Weak transcription	HMEC	breast
17	chr15:76524200-76553000	Weak transcription	NHDF-Ad	bronchial
18	chr15:76529000-76551000	Weak transcription	K562	blood
19	chr15:76531400-76551400	Weak transcription	Colon Smooth Muscle	Colon
20	chr15:76532800-76551200	Weak transcription	HSMMtube	muscle
21	chr15:76535400-76553000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr15:76535600-76551200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr15:76535600-76551800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr15:76535600-76555200	Weak transcription	Brain Substantia Nigra	brain
25	chr15:76537200-76551600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr15:76539000-76555600	Weak transcription	HUVEC	blood vessel
27	chr15:76542200-76551600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr15:76542800-76551800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr15:76544800-76552000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr15:76545000-76551400	Weak transcription	NHLF	lung
31	chr15:76545400-76555400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr15:76545800-76552000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr15:76546200-76553600	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr15:76546200-76554800	Strong transcription	Hela-S3	cervix
35	chr15:76546200-76555200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr15:76546200-76556000	Strong transcription	A549	lung
37	chr15:76546400-76552000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr15:76546600-76551600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr15:76546800-76551600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr15:76546800-76554200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr15:76546800-76558200	Weak transcription	Brain Angular Gyrus	brain
42	chr15:76547000-76551600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr15:76547000-76551800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr15:76547000-76551800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr15:76547000-76554600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr15:76547800-76551800	Weak transcription	NHEK	skin
47	chr15:76548000-76555000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr15:76549000-76555200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr15:76549400-76551600	Weak transcription	Primary B cells from cord blood	blood
50	chr15:76549400-76554600	Strong transcription	Duodenum Smooth Muscle	Duodenum

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