Variant report

Variant	rs8030228
Chromosome Location	chr15:41636867-41636868
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10518717	0.88[EUR][1000 genomes]
rs11070328	0.85[EUR][1000 genomes]
rs1132639	0.83[EUR][1000 genomes]
rs11629979	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11630656	0.85[EUR][1000 genomes]
rs11635269	0.83[EUR][1000 genomes]
rs11635565	0.81[EUR][1000 genomes]
rs11854081	0.85[EUR][1000 genomes]
rs13313520	0.88[EUR][1000 genomes]
rs17730589	0.85[EUR][1000 genomes]
rs17730888	0.90[EUR][1000 genomes]
rs1866399	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2118740	0.81[EUR][1000 genomes]
rs28377562	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28437576	0.88[EUR][1000 genomes]
rs28448670	0.88[EUR][1000 genomes]
rs28458941	0.81[EUR][1000 genomes]
rs28463309	0.81[EUR][1000 genomes]
rs28477406	0.88[EUR][1000 genomes]
rs28492932	0.86[EUR][1000 genomes]
rs28493702	0.82[EUR][1000 genomes]
rs28535540	0.82[EUR][1000 genomes]
rs28557159	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28617619	0.83[EUR][1000 genomes]
rs28623183	0.90[EUR][1000 genomes]
rs28661013	0.82[EUR][1000 genomes]
rs28687846	0.88[EUR][1000 genomes]
rs28712264	0.88[EUR][1000 genomes]
rs28716689	0.81[EUR][1000 genomes]
rs56341337	0.88[EUR][1000 genomes]
rs56400990	0.84[EUR][1000 genomes]
rs59000092	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6493000	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7162231	0.89[EUR][1000 genomes]
rs7163989	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7165396	0.86[EUR][1000 genomes]
rs7165914	0.88[EUR][1000 genomes]
rs7167706	0.85[EUR][1000 genomes]
rs7168307	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7169543	0.86[EUR][1000 genomes]
rs7181982	0.87[EUR][1000 genomes]
rs7182324	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72739630	0.87[EUR][1000 genomes]
rs8023530	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8036026	0.88[EUR][1000 genomes]
rs8037574	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8038132	0.85[EUR][1000 genomes]
rs9568	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs8030228	NDUFAF1	cis	Esophagus Muscularis	GTEx
rs8030228	KRTAP4-7	Cis_1M	lymphoblastoid	RTeQTL
rs8030228	OIP5-AS1	cis	Nerve Tibial	GTEx
rs8030228	NDUFAF1	Cis_1M	lymphoblastoid	RTeQTL
rs8030228	NDUFAF1	cis	Thyroid	GTEx
rs8030228	OIP5-AS1	cis	Artery Tibial	GTEx
rs8030228	NDUFAF1	cis	Heart Left Ventricle	GTEx
rs8030228	NDUFAF1	cis	Muscle Skeletal	GTEx
rs8030228	OIP5-AS1	cis	Adipose Subcutaneous	GTEx
rs8030228	NDUFAF1	cis	multi-tissue	Pritchard
rs8030228	OIP5-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs8030228	OIP5-AS1	cis	Esophagus Muscularis	GTEx
rs8030228	LOC729082	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41625400-41670200	Weak transcription	Gastric	stomach
2	chr15:41625600-41659200	Weak transcription	Lung	lung
3	chr15:41625800-41665800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr15:41625800-41694200	Weak transcription	Small Intestine	intestine
5	chr15:41626000-41642000	Weak transcription	Ovary	ovary
6	chr15:41626000-41665200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr15:41626200-41640600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr15:41626200-41643400	Weak transcription	Spleen	Spleen
9	chr15:41626200-41658200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr15:41626200-41678200	Weak transcription	Liver	Liver
11	chr15:41626200-41680200	Weak transcription	Fetal Brain Male	brain
12	chr15:41626400-41677800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr15:41626400-41678400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr15:41626600-41643400	Weak transcription	Primary B cells from cord blood	blood
15	chr15:41626800-41641200	Weak transcription	Placenta	Placenta
16	chr15:41626800-41642800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr15:41626800-41643200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr15:41626800-41643400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr15:41626800-41686400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr15:41627000-41638000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr15:41627000-41672800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr15:41627200-41637000	Weak transcription	Brain Germinal Matrix	brain
23	chr15:41627200-41676800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr15:41627400-41668000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr15:41627400-41673000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:41628200-41673000	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr15:41628600-41672800	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr15:41628600-41673800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr15:41628800-41654400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr15:41629000-41672000	Weak transcription	Primary T cells from cord blood	blood
31	chr15:41629000-41673000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr15:41629400-41672400	Strong transcription	Fetal Stomach	stomach
33	chr15:41629400-41672800	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr15:41629400-41673600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr15:41629600-41674000	Strong transcription	Fetal Thymus	thymus
36	chr15:41629800-41658800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr15:41630000-41662000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr15:41630400-41649600	Strong transcription	Fetal Muscle Trunk	muscle
39	chr15:41630400-41674000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr15:41630400-41674200	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr15:41630800-41642800	Weak transcription	Fetal Heart	heart
42	chr15:41630800-41673800	Strong transcription	Dnd41	blood
43	chr15:41631200-41643400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr15:41631200-41659200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr15:41631800-41649600	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr15:41631800-41679200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr15:41632000-41654600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr15:41632000-41673000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr15:41632000-41673600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr15:41632200-41638400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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