Variant report

Variant	rs8036498
Chromosome Location	chr15:41603276-41603277
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:41574968..41578367-chr15:41600315..41603711,4	K562	blood:
2	chr15:41601722..41604409-chr15:41611682..41614263,2	K562	blood:

Variant related genes	Relation type
ENSG00000247556	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10152497	0.89[ASN][1000 genomes]
rs10153010	0.89[ASN][1000 genomes]
rs10467974	0.86[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10518718	0.93[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11549913	0.85[ASN][1000 genomes]
rs11630191	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11631770	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.86[ASN][1000 genomes]
rs11633799	0.95[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.92[YRI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11852609	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11857631	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12324291	0.92[ASN][1000 genomes]
rs13379756	0.82[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.89[YRI][hapmap]
rs16971767	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16971798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16971806	0.93[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs16971832	0.91[JPT][hapmap]
rs16971834	0.86[CHB][hapmap];0.85[CHD][hapmap];0.91[JPT][hapmap]
rs1757456	0.84[CEU][hapmap];0.80[CHB][hapmap]
rs1757463	0.87[CHB][hapmap]
rs2015781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2777491	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.86[ASN][1000 genomes]
rs28393472	0.89[ASN][1000 genomes]
rs28526381	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28557159	0.94[GIH][hapmap];0.84[MEX][hapmap]
rs28578057	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28583065	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28600680	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28643296	0.96[ASN][1000 genomes]
rs28655070	0.82[ASN][1000 genomes]
rs28716108	0.95[ASN][1000 genomes]
rs28792672	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs316605	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];0.91[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap]
rs316609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs316610	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];0.91[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap]
rs316613	0.83[ASN][1000 genomes]
rs316614	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];0.91[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.83[ASN][1000 genomes]
rs316615	0.80[ASN][1000 genomes]
rs316617	0.81[CEU][hapmap];0.87[CHB][hapmap];0.86[TSI][hapmap]
rs35826725	0.93[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3743038	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55782852	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58335029	0.92[ASN][1000 genomes]
rs58910172	0.96[ASN][1000 genomes]
rs59590312	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs61037359	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61127691	0.96[ASN][1000 genomes]
rs6650519	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66538814	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7161772	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7163649	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7163788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7165675	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7167498	0.93[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7167729	0.88[ASN][1000 genomes]
rs7168177	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7168307	0.94[GIH][hapmap];0.84[MEX][hapmap]
rs7172148	0.83[ASN][1000 genomes]
rs7175690	0.96[ASN][1000 genomes]
rs7175800	0.93[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7176314	0.96[ASN][1000 genomes]
rs7176505	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7176588	1.00[ASW][hapmap];0.95[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7177641	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.86[ASN][1000 genomes]
rs7178634	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs7178777	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs7180418	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs7181560	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7181911	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7182667	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7182700	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7183337	0.92[ASN][1000 genomes]
rs73404980	0.89[ASN][1000 genomes]
rs73404987	0.95[ASN][1000 genomes]
rs73404994	0.89[ASN][1000 genomes]
rs73404995	0.89[ASN][1000 genomes]
rs73404996	0.89[ASN][1000 genomes]
rs73405000	0.87[ASN][1000 genomes]
rs73405001	0.87[ASN][1000 genomes]
rs73407109	0.89[ASN][1000 genomes]
rs8023530	0.94[GIH][hapmap];0.84[MEX][hapmap]
rs8023619	0.92[ASN][1000 genomes]
rs8024774	0.84[CEU][hapmap];0.80[CHB][hapmap];0.85[TSI][hapmap]
rs8026197	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8027626	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8032838	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8034626	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8034819	0.83[ASN][1000 genomes]
rs8037574	0.94[GIH][hapmap];0.84[MEX][hapmap]
rs8037824	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8041325	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap]
rs823716	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs919961	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9302109	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9672866	0.85[ASN][1000 genomes]
rs9972288	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9972547	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045455	chr15:41536624-41620534	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	esv14767	chr15:41595813-41619355	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs8036498	NDUFAF1	cis	multi-tissue	Pritchard
rs8036498	NDUFAF1	cis	Esophagus Muscularis	GTEx
rs8036498	NDUFAF1	cis	Heart Left Ventricle	GTEx
rs8036498	KRTAP4-7	cis	uninvolved skin	skin_eQTL
rs8036498	NDUFAF1	cis	Muscle Skeletal	GTEx
rs8036498	OIP5-AS1	cis	Esophagus Muscularis	GTEx
rs8036498	NDUFAF1	cis	Thyroid	GTEx
rs8036498	LOC729082	Cis_1M	lymphoblastoid	RTeQTL
rs8036498	OIP5-AS1	cis	Adipose Subcutaneous	GTEx
rs8036498	OIP5-AS1	cis	Nerve Tibial	GTEx
rs8036498	NDUFAF1	Cis_1M	lymphoblastoid	RTeQTL
rs8036498	OIP5-AS1	cis	Artery Tibial	GTEx
rs8036498	KRTAP4-7	Cis_1M	lymphoblastoid	RTeQTL
rs8036498	OIP5-AS1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41577400-41610600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:41577600-41606400	Weak transcription	Stomach Mucosa	stomach
3	chr15:41579200-41612400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:41581200-41604800	Weak transcription	Gastric	stomach
5	chr15:41581200-41605000	Weak transcription	Brain Substantia Nigra	brain
6	chr15:41581200-41607000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr15:41581200-41609600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr15:41581200-41623600	Weak transcription	Fetal Brain Male	brain
9	chr15:41581400-41605000	Weak transcription	HMEC	breast
10	chr15:41581400-41610400	Weak transcription	NHLF	lung
11	chr15:41581600-41623600	Weak transcription	Fetal Kidney	kidney
12	chr15:41583200-41623600	Weak transcription	HSMM	muscle
13	chr15:41583800-41613000	Weak transcription	Right Ventricle	heart
14	chr15:41584000-41604800	Weak transcription	Aorta	Aorta
15	chr15:41585600-41623600	Weak transcription	Primary B cells from cord blood	blood
16	chr15:41587200-41606800	Weak transcription	Fetal Heart	heart
17	chr15:41587600-41623000	Weak transcription	NHEK	skin
18	chr15:41589400-41603600	Weak transcription	Spleen	Spleen
19	chr15:41589400-41604800	Weak transcription	Pancreas	Pancrea
20	chr15:41589600-41604800	Weak transcription	Lung	lung
21	chr15:41589600-41624000	Weak transcription	Esophagus	oesophagus
22	chr15:41590200-41609200	Weak transcription	Colonic Mucosa	Colon
23	chr15:41590200-41623600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr15:41590600-41606800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr15:41590600-41623000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr15:41590800-41623000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr15:41591000-41606600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr15:41591200-41605000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr15:41591200-41623800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr15:41591200-41624000	Weak transcription	HSMMtube	muscle
31	chr15:41591600-41606600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr15:41591600-41611400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr15:41591600-41623200	Weak transcription	HUVEC	blood vessel
34	chr15:41591800-41624000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr15:41592000-41618400	Weak transcription	Fetal Brain Female	brain
36	chr15:41592400-41604600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr15:41592400-41605000	Weak transcription	Adipose Nuclei	Adipose
38	chr15:41592400-41607400	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr15:41592400-41608200	Weak transcription	Brain Anterior Caudate	brain
40	chr15:41592400-41623000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr15:41592400-41623200	Weak transcription	Osteobl	bone
42	chr15:41592400-41624000	Weak transcription	Brain Angular Gyrus	brain
43	chr15:41592600-41604800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr15:41592600-41605200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr15:41592600-41610600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr15:41592600-41612400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr15:41592600-41623800	Weak transcription	Primary B cells from peripheral blood	blood
48	chr15:41592800-41607400	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr15:41592800-41612400	Weak transcription	Fetal Intestine Large	intestine
50	chr15:41592800-41613200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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