Variant report

Variant	rs8027626
Chromosome Location	chr15:41711514-41711515
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:41708317..41710602-chr15:41711098..41714425,3	MCF-7	breast:
2	chr15:41706897..41710806-chr15:41711426..41714664,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137815	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10152497	0.91[ASN][1000 genomes]
rs10153010	0.91[ASN][1000 genomes]
rs10467974	0.82[ASN][1000 genomes]
rs10518718	0.86[ASN][1000 genomes]
rs11630191	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11631770	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11633799	0.83[ASN][1000 genomes]
rs12324291	0.88[ASN][1000 genomes]
rs1655556	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16971767	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16971798	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16971806	0.96[ASN][1000 genomes]
rs16971832	0.84[ASN][1000 genomes]
rs16971834	0.83[ASN][1000 genomes]
rs1757455	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2015781	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2777491	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28393472	0.91[ASN][1000 genomes]
rs28526381	0.88[ASN][1000 genomes]
rs28578057	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28583065	0.88[ASN][1000 genomes]
rs28600680	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28643296	0.84[ASN][1000 genomes]
rs28655070	0.93[ASN][1000 genomes]
rs28716108	0.91[ASN][1000 genomes]
rs28792672	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28847691	0.91[ASN][1000 genomes]
rs316605	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs316609	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs316610	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs316613	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs316614	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs316615	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35826725	0.95[ASN][1000 genomes]
rs3743038	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55782852	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58335029	0.80[ASN][1000 genomes]
rs58910172	0.84[ASN][1000 genomes]
rs59590312	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61037359	0.87[ASN][1000 genomes]
rs61127691	0.84[ASN][1000 genomes]
rs6650519	0.86[ASN][1000 genomes]
rs66538814	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66591771	0.81[EUR][1000 genomes]
rs7161772	0.88[ASN][1000 genomes]
rs7163649	0.87[ASN][1000 genomes]
rs7163788	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7165675	0.88[ASN][1000 genomes]
rs7167498	0.83[ASN][1000 genomes]
rs7167729	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7168177	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7172148	0.95[ASN][1000 genomes]
rs7175690	0.84[ASN][1000 genomes]
rs7175800	0.84[ASN][1000 genomes]
rs7176314	0.84[ASN][1000 genomes]
rs7176505	0.81[ASN][1000 genomes]
rs7176588	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7177641	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7180492	0.86[ASN][1000 genomes]
rs7181560	0.83[ASN][1000 genomes]
rs7181911	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7182667	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7182700	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7183337	0.80[ASN][1000 genomes]
rs73404980	0.80[ASN][1000 genomes]
rs73404987	0.86[ASN][1000 genomes]
rs73404994	0.91[ASN][1000 genomes]
rs73404995	0.91[ASN][1000 genomes]
rs73404996	0.91[ASN][1000 genomes]
rs73405000	0.88[ASN][1000 genomes]
rs73405001	0.88[ASN][1000 genomes]
rs73407109	0.91[ASN][1000 genomes]
rs8023619	0.81[ASN][1000 genomes]
rs8026197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8032838	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8034626	0.86[ASN][1000 genomes]
rs8034819	0.95[ASN][1000 genomes]
rs8036498	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8036527	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8037824	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs823716	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs919961	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9302109	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9672866	0.87[ASN][1000 genomes]
rs9972288	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044438	chr15:41560160-41745480	Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv1038923	chr15:41585028-41754890	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv1045142	chr15:41585044-41738314	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv1039283	chr15:41620499-41745480	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
5	nsv933757	chr15:41641236-41773058	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
6	nsv524476	chr15:41689232-41820200	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv569232	chr15:41694377-41730246	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs8027626	OIP5-AS1	cis	Nerve Tibial	GTEx
rs8027626	NDUFAF1	cis	multi-tissue	Pritchard
rs8027626	NDUFAF1	cis	Heart Left Ventricle	GTEx
rs8027626	OIP5-AS1	cis	Adipose Subcutaneous	GTEx
rs8027626	LOC729082	Cis_1M	lymphoblastoid	RTeQTL
rs8027626	NDUFAF1	Cis_1M	lymphoblastoid	RTeQTL
rs8027626	KRTAP4-7	Cis_1M	lymphoblastoid	RTeQTL
rs8027626	NDUFAF1	cis	Thyroid	GTEx
rs8027626	NDUFAF1	cis	Muscle Skeletal	GTEx
rs8027626	NDUFAF1	cis	Esophagus Muscularis	GTEx
rs8027626	OIP5-AS1	cis	Artery Tibial	GTEx

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41708000-41711600	Active TSS	K562	blood
2	chr15:41708200-41711800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr15:41710400-41711800	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr15:41710400-41711800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr15:41710400-41711800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr15:41710400-41712000	Weak transcription	Gastric	stomach
7	chr15:41710400-41712600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr15:41710400-41712600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr15:41710400-41712600	Weak transcription	Pancreas	Pancrea
10	chr15:41710400-41713000	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr15:41710400-41713000	Weak transcription	Spleen	Spleen
12	chr15:41710400-41713400	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr15:41710400-41715600	Weak transcription	Lung	lung
14	chr15:41710400-41724600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr15:41710400-41745200	Weak transcription	Esophagus	oesophagus
16	chr15:41710400-41750000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr15:41710600-41711600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr15:41710600-41711600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr15:41710600-41711600	Enhancers	Fetal Heart	heart
20	chr15:41710600-41711800	Enhancers	Primary hematopoietic stem cells	blood
21	chr15:41710600-41711800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr15:41710600-41711800	Enhancers	Brain Anterior Caudate	brain
23	chr15:41710600-41711800	Enhancers	Fetal Brain Male	brain
24	chr15:41710600-41712400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr15:41710600-41712400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr15:41710600-41712600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr15:41710600-41713000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr15:41710600-41713200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr15:41710600-41713200	Enhancers	Liver	Liver
30	chr15:41710600-41714600	Weak transcription	Stomach Mucosa	stomach
31	chr15:41710600-41715000	Weak transcription	Ovary	ovary
32	chr15:41710600-41716200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr15:41710600-41717000	Weak transcription	Fetal Stomach	stomach
34	chr15:41710600-41721200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr15:41710600-41721200	Weak transcription	Right Atrium	heart
36	chr15:41710600-41723800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr15:41710600-41723800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr15:41710600-41729800	Weak transcription	Brain Substantia Nigra	brain
39	chr15:41710600-41731600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr15:41710600-41731600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr15:41710600-41731800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr15:41710600-41733600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr15:41710600-41745200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr15:41710800-41711600	Enhancers	Colon Smooth Muscle	Colon
45	chr15:41710800-41711600	Enhancers	NHEK	skin
46	chr15:41710800-41711800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr15:41710800-41711800	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr15:41710800-41712000	Enhancers	Hela-S3	cervix
49	chr15:41710800-41712400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr15:41710800-41712400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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