Variant report

Variant	rs8059427
Chromosome Location	chr16:75483223-75483224
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75466529..75469115-chr16:75481185..75484731,5	MCF-7	breast:
2	chr16:75482535..75486737-chr16:75496881..75499746,4	MCF-7	breast:
3	chr16:75482835..75485909-chr16:75488077..75491215,3	MCF-7	breast:
4	chr16:75481686..75483472-chr16:75653624..75656494,2	K562	blood:
5	chr16:75480575..75485333-chr16:75494576..75499874,6	K562	blood:
6	chr16:75482567..75484113-chr16:75496935..75499485,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261717	Chromatin interaction
ENSG00000065457	Chromatin interaction
ENSG00000166822	Chromatin interaction
ENSG00000153774	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10438605	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11149817	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12149472	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12149940	0.93[ASN][1000 genomes]
rs12444789	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12445803	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12716785	0.93[ASN][1000 genomes]
rs12918234	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12921808	0.93[ASN][1000 genomes]
rs12926447	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12935491	0.93[ASN][1000 genomes]
rs13337069	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13339257	0.89[ASN][1000 genomes]
rs17605695	0.93[ASN][1000 genomes]
rs17674216	0.93[ASN][1000 genomes]
rs2285221	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2550325	0.93[ASN][1000 genomes]
rs2550916	0.93[ASN][1000 genomes]
rs2650408	0.93[ASN][1000 genomes]
rs2650409	0.93[ASN][1000 genomes]
rs28368934	0.83[ASN][1000 genomes]
rs28371085	0.85[EUR][1000 genomes]
rs28451004	0.81[EUR][1000 genomes]
rs28510780	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28525459	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34532060	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4081763	0.93[ASN][1000 genomes]
rs4383172	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55715607	0.93[ASN][1000 genomes]
rs55719515	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59800961	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60544814	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6625	0.93[ASN][1000 genomes]
rs71380715	0.86[ASN][1000 genomes]
rs7184596	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7185880	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7186825	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7188111	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7206589	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7206780	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs729109	0.86[ASN][1000 genomes]
rs8046261	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8047983	0.85[ASN][1000 genomes]
rs8048683	0.93[ASN][1000 genomes]
rs8050367	0.82[ASN][1000 genomes]
rs8051151	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8051238	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8052405	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8052555	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8054557	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8055098	0.89[ASN][1000 genomes]
rs8056345	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8056473	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8057652	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8057925	0.93[ASN][1000 genomes]
rs8059883	1.00[ASN][1000 genomes]
rs8060338	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8063733	0.93[ASN][1000 genomes]
rs9319483	0.93[ASN][1000 genomes]
rs9319484	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9745455	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9921115	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9921330	0.93[ASN][1000 genomes]
rs9923034	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9923465	0.86[ASN][1000 genomes]
rs9923574	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9924524	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9926453	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9926933	1.00[ASN][1000 genomes]
rs9927330	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9928744	0.93[ASN][1000 genomes]
rs9928901	0.93[ASN][1000 genomes]
rs9930002	0.86[ASN][1000 genomes]
rs9932982	0.93[ASN][1000 genomes]
rs9935954	0.93[ASN][1000 genomes]
rs9935967	0.93[ASN][1000 genomes]
rs9936641	0.93[ASN][1000 genomes]
rs9936648	0.93[ASN][1000 genomes]
rs9936853	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9937903	0.86[ASN][1000 genomes]
rs9938936	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9939080	0.93[ASN][1000 genomes]
rs9939587	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9940189	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9940884	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9941142	0.93[ASN][1000 genomes]
rs9972714	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv1063718	chr16:75395969-75608071	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
5	esv2758432	chr16:75419614-75576971	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	esv2758657	chr16:75419614-75576971	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv521596	chr16:75466696-75486648	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
8	nsv525955	chr16:75473332-75628345	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs8059427	RP11-252K23.2	cis	Adipose Subcutaneous	GTEx
rs8059427	RP11-252K23.2	cis	lung	GTEx
rs8059427	RP11-252K23.2	cis	Thyroid	GTEx
rs8059427	RP11-252K23.2	cis	Esophagus Mucosa	GTEx
rs8059427	RP11-252K23.2	cis	Artery Tibial	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75468400-75489400	Weak transcription	Small Intestine	intestine
2	chr16:75468600-75487800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:75468600-75489800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr16:75468800-75483600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr16:75468800-75483600	Weak transcription	Adipose Nuclei	Adipose
6	chr16:75468800-75483600	Weak transcription	Hela-S3	cervix
7	chr16:75468800-75483800	Weak transcription	HSMMtube	muscle
8	chr16:75468800-75484200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr16:75468800-75484400	Weak transcription	Brain Anterior Caudate	brain
10	chr16:75468800-75484400	Weak transcription	NHEK	skin
11	chr16:75468800-75484600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr16:75468800-75484600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr16:75468800-75484600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr16:75468800-75484800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr16:75468800-75484800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr16:75468800-75485400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr16:75468800-75486400	Weak transcription	Pancreas	Pancrea
18	chr16:75468800-75486400	Weak transcription	Right Atrium	heart
19	chr16:75468800-75486600	Weak transcription	HUVEC	blood vessel
20	chr16:75468800-75489200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr16:75468800-75493800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr16:75468800-75497000	Weak transcription	NHLF	lung
23	chr16:75469400-75483400	Weak transcription	Fetal Brain Female	brain
24	chr16:75469400-75483600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr16:75469400-75484600	Weak transcription	Spleen	Spleen
26	chr16:75469400-75484800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr16:75469400-75484800	Weak transcription	Brain Angular Gyrus	brain
28	chr16:75469400-75484800	Weak transcription	Brain Hippocampus Middle	brain
29	chr16:75469400-75486600	Weak transcription	K562	blood
30	chr16:75469400-75491000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr16:75469400-75497000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr16:75469400-75497400	Weak transcription	Psoas Muscle	Psoas
33	chr16:75470000-75484600	Weak transcription	Right Ventricle	heart
34	chr16:75473600-75496000	Weak transcription	HMEC	breast
35	chr16:75474800-75483400	Weak transcription	Placenta	Placenta
36	chr16:75476400-75483600	Weak transcription	Fetal Kidney	kidney
37	chr16:75476400-75484600	Weak transcription	Thymus	Thymus
38	chr16:75476800-75485800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr16:75477000-75487000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr16:75477400-75483400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr16:75477400-75494400	Weak transcription	NH-A	brain
42	chr16:75477800-75497000	Weak transcription	NHDF-Ad	bronchial
43	chr16:75478000-75484800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr16:75478000-75485200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr16:75478600-75486800	Weak transcription	Ovary	ovary
46	chr16:75478800-75485800	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr16:75478800-75485800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr16:75479200-75485800	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr16:75479200-75487200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr16:75479400-75485800	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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