Variant report

Variant	rs1009913
Chromosome Location	chr15:41331050-41331051
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:41330998..41333072-chr15:41336486..41338381,2	K562	blood:
2	chr15:41324923..41327886-chr15:41329412..41332242,2	K562	blood:
3	chr15:41326386..41328188-chr15:41329412..41331864,2	K562	blood:
4	chr15:41329741..41332656-chr15:41334948..41337041,4	K562	blood:
5	chr15:41330145..41332078-chr15:41334836..41336898,2	MCF-7	breast:

Extended variants
information (count: 75 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1001341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11070315	1.00[CEU][hapmap]
rs11853192	0.85[ASN][1000 genomes]
rs11854472	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11855248	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11856572	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11856577	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11856848	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12899590	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12905926	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12910027	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13329511	0.88[ASN][1000 genomes]
rs1678750	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1717200	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1869907	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs1962410	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1983400	0.85[ASN][1000 genomes]
rs2176998	0.88[EUR][1000 genomes]
rs2306083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2412572	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2412574	0.85[ASN][1000 genomes]
rs2412601	0.84[EUR][1000 genomes]
rs28455998	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28473405	0.84[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs28479904	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28501589	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28510775	0.85[ASN][1000 genomes]
rs28572344	0.81[ASN][1000 genomes]
rs28581803	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28613002	0.81[ASN][1000 genomes]
rs28688742	0.81[ASN][1000 genomes]
rs28729675	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28866311	0.86[EUR][1000 genomes]
rs2899002	1.00[CEU][hapmap]
rs2925342	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2925343	0.84[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2925345	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2925346	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2927061	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2927062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2928148	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2947493	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2947494	0.86[ASN][1000 genomes]
rs3100807	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3101436	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3101442	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3214068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3900905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3986311	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4244584	0.85[ASN][1000 genomes]
rs4497658	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4592624	0.83[ASN][1000 genomes]
rs476633	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4923890	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4924532	0.82[ASN][1000 genomes]
rs516156	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs544744	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57393155	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs66818965	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs691830	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs692153	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs692155	0.92[CEU][hapmap];0.85[CHB][hapmap];0.90[EUR][1000 genomes]
rs7162992	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7169375	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7171437	0.88[ASN][1000 genomes]
rs7179681	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7181816	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72737704	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8023345	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8030306	0.85[ASN][1000 genomes]
rs8037837	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8042088	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs909024	0.84[CHB][hapmap]
rs9796	0.96[CEU][hapmap]

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	nsv1053462	chr15:41270067-41396094	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1009913	NDUFAF1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41258800-41348400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:41276600-41354600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:41280400-41339800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr15:41306800-41338800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr15:41307600-41335000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr15:41308800-41331200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr15:41308800-41337000	Weak transcription	Colonic Mucosa	Colon
8	chr15:41309000-41339200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr15:41309400-41332600	Weak transcription	Gastric	stomach
10	chr15:41310000-41333200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr15:41310000-41333400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr15:41311400-41335400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr15:41313400-41332800	Weak transcription	Brain Angular Gyrus	brain
14	chr15:41313400-41333200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr15:41313400-41336000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr15:41313400-41336200	Weak transcription	Brain Substantia Nigra	brain
17	chr15:41314000-41333000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr15:41314000-41335600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr15:41314800-41331800	Weak transcription	Fetal Brain Male	brain
20	chr15:41317000-41331600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr15:41317000-41332200	Weak transcription	Right Ventricle	heart
22	chr15:41317400-41331600	Weak transcription	Fetal Kidney	kidney
23	chr15:41317400-41331600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr15:41317400-41332200	Weak transcription	Ovary	ovary
25	chr15:41317600-41332200	Weak transcription	HSMMtube	muscle
26	chr15:41318400-41334400	Weak transcription	Small Intestine	intestine
27	chr15:41319400-41331600	Weak transcription	Fetal Brain Female	brain
28	chr15:41319400-41335000	Weak transcription	Brain Germinal Matrix	brain
29	chr15:41319400-41339800	Weak transcription	Psoas Muscle	Psoas
30	chr15:41319600-41332600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr15:41319600-41335000	Weak transcription	A549	lung
32	chr15:41319600-41337000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr15:41319800-41331200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr15:41319800-41332200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr15:41319800-41332400	Weak transcription	Brain Hippocampus Middle	brain
36	chr15:41320000-41331200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr15:41320000-41331600	Weak transcription	NHLF	lung
38	chr15:41320000-41332400	Weak transcription	Thymus	Thymus
39	chr15:41320000-41337000	Weak transcription	Esophagus	oesophagus
40	chr15:41320000-41337200	Weak transcription	Colon Smooth Muscle	Colon
41	chr15:41320200-41332800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr15:41320600-41331200	Weak transcription	Left Ventricle	heart
43	chr15:41320600-41332200	Weak transcription	Lung	lung
44	chr15:41320600-41332400	Weak transcription	Spleen	Spleen
45	chr15:41320600-41339400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr15:41320800-41331200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr15:41321400-41331600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr15:41321600-41332600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr15:41322200-41331600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr15:41322200-41331600	Weak transcription	K562	blood

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