Variant report

Variant	rs8036686
Chromosome Location	chr15:41550333-41550334
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	chr15:41550157..41551774-chr15:41554102..41556216,2	K562	blood:
2	chr15:41548966..41550602-chr15:41575421..41577159,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000247556	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 18 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs13329240	0.82[EUR][1000 genomes]
rs16952331	0.85[CHB][hapmap];0.94[CHD][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs16971647	0.80[ASN][1000 genomes]
rs16971651	0.80[ASN][1000 genomes]
rs16971653	0.80[ASN][1000 genomes]
rs16971654	0.80[ASN][1000 genomes]
rs16971733	1.00[ASW][hapmap];0.90[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16971734	0.85[CHB][hapmap];0.94[CHD][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs16971735	0.94[ASW][hapmap];0.90[CEU][hapmap];0.93[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.87[LWK][hapmap];0.90[MEX][hapmap];0.98[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2083238	0.80[ASN][1000 genomes]
rs2090826	0.85[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs2099652	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2412607	0.80[ASN][1000 genomes]
rs2412610	0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs28417774	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28468975	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28478807	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28626792	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2899014	0.90[ASN][1000 genomes]
rs55787465	0.80[ASN][1000 genomes]
rs55952963	0.80[ASN][1000 genomes]
rs56262456	0.80[ASN][1000 genomes]
rs57009745	0.80[ASN][1000 genomes]
rs58060180	0.82[ASN][1000 genomes]
rs58436082	0.82[ASN][1000 genomes]
rs58851405	0.80[ASN][1000 genomes]
rs6492995	0.93[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6492996	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7165551	0.85[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs7166182	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs74012251	0.96[ASN][1000 genomes]
rs74012252	0.96[ASN][1000 genomes]
rs74012253	0.96[ASN][1000 genomes]
rs74012255	0.94[ASN][1000 genomes]
rs8025660	0.85[CHB][hapmap];0.91[CHD][hapmap]
rs8025916	0.85[CHB][hapmap];0.91[CHD][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs8029873	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8030033	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8030683	0.85[CHB][hapmap];0.91[CHD][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs8030706	0.85[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs8030712	0.84[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs8030732	0.85[CHB][hapmap];0.91[CHD][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs8030954	0.85[CHB][hapmap];0.91[CHD][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs8031542	0.92[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs8034073	0.94[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8034924	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9672272	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:18)

SNP	Gene	Cis/trans	Tissue	Source
rs8036686	NDUFAF1	cis	lymphoblastoid	seeQTL
rs8036686	RPAP1	cis	parietal	SCAN
rs8036686	NUSAP1	cis	cerebellum	SCAN
rs8036686	NDUFAF1	cis	Muscle Skeletal	GTEx
rs8036686	GPR176	cis	parietal	SCAN
rs8036686	CRYL1	trans	lymphoblastoid	seeQTL
rs8036686	NDUFAF1	cis	parietal	SCAN
rs8036686	BUB1B	cis	parietal	SCAN
rs8036686	NDUFAF1	cis	cerebellum	SCAN
rs8036686	NDUFAF1	cis	Esophagus Muscularis	GTEx
rs8036686	NDUFAF1	Cis_1M	lymphoblastoid	RTeQTL
rs8036686	KRTAP4-7	Cis_1M	lymphoblastoid	RTeQTL
rs8036686	LOC729082	Cis_1M	lymphoblastoid	RTeQTL
rs8036686	OIP5-AS1	cis	Artery Tibial	GTEx
rs8036686	NDUFAF1	cis	Heart Left Ventricle	GTEx
rs8036686	GPR176	cis	cerebellum	SCAN
rs8036686	NDUFAF1	cis	Thyroid	GTEx
rs8036686	NDUFAF1	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41524200-41554800	Weak transcription	Fetal Thymus	thymus
2	chr15:41524200-41555800	Weak transcription	Aorta	Aorta
3	chr15:41524200-41563800	Weak transcription	Small Intestine	intestine
4	chr15:41524200-41575800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr15:41524400-41555800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr15:41524800-41563800	Weak transcription	Esophagus	oesophagus
7	chr15:41525200-41554200	Weak transcription	Fetal Brain Female	brain
8	chr15:41525200-41556400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr15:41525200-41575400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr15:41525400-41556200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr15:41525400-41556800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr15:41525800-41554800	Weak transcription	Dnd41	blood
13	chr15:41525800-41575200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr15:41526000-41554800	Weak transcription	Brain Angular Gyrus	brain
15	chr15:41526200-41554800	Weak transcription	Colon Smooth Muscle	Colon
16	chr15:41532400-41550600	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr15:41533200-41552400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr15:41533800-41554600	Weak transcription	Brain Anterior Caudate	brain
19	chr15:41533800-41555000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr15:41534000-41555200	Weak transcription	Brain Germinal Matrix	brain
21	chr15:41534200-41551000	Weak transcription	GM12878-XiMat	blood
22	chr15:41534200-41555200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr15:41534200-41556400	Weak transcription	Spleen	Spleen
24	chr15:41536600-41573600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr15:41536800-41555000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr15:41536800-41555200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr15:41537200-41553000	Weak transcription	Colonic Mucosa	Colon
28	chr15:41537200-41555000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr15:41537400-41555000	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr15:41537400-41570800	Weak transcription	Ovary	ovary
31	chr15:41537600-41552000	Weak transcription	Pancreas	Pancrea
32	chr15:41537600-41562800	Weak transcription	Lung	lung
33	chr15:41537800-41552000	Weak transcription	Psoas Muscle	Psoas
34	chr15:41537800-41554600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr15:41538200-41555000	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr15:41539400-41555000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr15:41539400-41555800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr15:41541600-41554800	Weak transcription	Thymus	Thymus
39	chr15:41542600-41554800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr15:41542600-41555000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr15:41542600-41555000	Weak transcription	NHLF	lung
42	chr15:41542800-41554800	Weak transcription	NH-A	brain
43	chr15:41542800-41555000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr15:41542800-41572000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr15:41543000-41575200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr15:41543800-41552000	Weak transcription	Gastric	stomach
47	chr15:41544600-41553400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr15:41544800-41552200	Weak transcription	Fetal Stomach	stomach
49	chr15:41545000-41554400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr15:41545000-41554600	Weak transcription	Left Ventricle	heart

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