Variant report

Variant	rs72737704
Chromosome Location	chr15:41323575-41323576
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr15:41323384-41324278	HEK293-T-REx	kidney:	n/a	chr15:41323697-41323718 chr15:41323662-41323683 chr15:41323638-41323659

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:41315566..41320310-chr15:41320724..41323896,4	K562	blood:

Variant related genes	Relation type
INO80	TF binding region
ENSG00000128908	Chromatin interaction
ENSG00000259521	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1001341	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1009913	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11854472	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11855248	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11856572	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11856577	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11856848	0.85[EUR][1000 genomes]
rs12899590	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12905926	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12910027	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13329511	0.96[ASN][1000 genomes]
rs1678750	0.83[EUR][1000 genomes]
rs1717200	0.84[EUR][1000 genomes]
rs1869907	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1962410	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2176998	0.82[EUR][1000 genomes]
rs2306083	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2412572	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2412574	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28473405	0.95[ASN][1000 genomes]
rs28479904	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28501589	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28572344	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28581803	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2925342	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2925343	0.96[ASN][1000 genomes]
rs2925345	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2925346	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2927061	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2927062	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2928148	0.83[EUR][1000 genomes]
rs3100807	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3101436	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3214068	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3900905	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3986311	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4244584	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4497658	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4923890	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4924528	0.82[ASN][1000 genomes]
rs4924532	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs516156	0.84[EUR][1000 genomes]
rs544744	0.86[EUR][1000 genomes]
rs6492978	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66818965	0.83[EUR][1000 genomes]
rs691830	0.83[EUR][1000 genomes]
rs692155	0.82[EUR][1000 genomes]
rs7162992	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7169375	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7171437	0.96[ASN][1000 genomes]
rs7179681	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7181816	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8023345	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8030306	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8037837	0.81[EUR][1000 genomes]
rs8042088	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[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	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
rs72737704	NDUFAF1	cis	Muscle Skeletal	GTEx

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	chr15:41311000-41328800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr15:41311400-41335400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr15:41313400-41332800	Weak transcription	Brain Angular Gyrus	brain
15	chr15:41313400-41333200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr15:41313400-41336000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr15:41313400-41336200	Weak transcription	Brain Substantia Nigra	brain
18	chr15:41314000-41333000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr15:41314000-41335600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr15:41314600-41323800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr15:41314800-41331800	Weak transcription	Fetal Brain Male	brain
22	chr15:41315000-41325200	Weak transcription	NHEK	skin
23	chr15:41316000-41323600	Strong transcription	Primary B cells from peripheral blood	blood
24	chr15:41317000-41327400	Weak transcription	Aorta	Aorta
25	chr15:41317000-41331600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr15:41317000-41332200	Weak transcription	Right Ventricle	heart
27	chr15:41317400-41331600	Weak transcription	Fetal Kidney	kidney
28	chr15:41317400-41331600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr15:41317400-41332200	Weak transcription	Ovary	ovary
30	chr15:41317600-41332200	Weak transcription	HSMMtube	muscle
31	chr15:41318000-41324200	Strong transcription	Fetal Intestine Small	intestine
32	chr15:41318000-41324400	Strong transcription	Fetal Stomach	stomach
33	chr15:41318000-41326600	Weak transcription	Stomach Mucosa	stomach
34	chr15:41318200-41331000	Weak transcription	Fetal Heart	heart
35	chr15:41318400-41334400	Weak transcription	Small Intestine	intestine
36	chr15:41319400-41323800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr15:41319400-41331000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr15:41319400-41331600	Weak transcription	Fetal Brain Female	brain
39	chr15:41319400-41335000	Weak transcription	Brain Germinal Matrix	brain
40	chr15:41319400-41339800	Weak transcription	Psoas Muscle	Psoas
41	chr15:41319600-41332600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr15:41319600-41335000	Weak transcription	A549	lung
43	chr15:41319600-41337000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr15:41319800-41330200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr15:41319800-41330600	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr15:41319800-41331200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr15:41319800-41332200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr15:41319800-41332400	Weak transcription	Brain Hippocampus Middle	brain
49	chr15:41320000-41323800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr15:41320000-41323800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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