Variant report

Variant	rs72714915
Chromosome Location	chr1:161136343-161136344
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:432)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:432 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYBL2	chr1:161135593-161136555	HepG2	liver:	n/a	n/a
2	POLR2A	chr1:161135575-161137037	HepG2	liver:	n/a	n/a
3	CTCF	chr1:161135317-161136363	K562	blood:	n/a	chr1:161135864-161135877
4	YY1	chr1:161135891-161136402	HCT-116	colon:	n/a	n/a
5	POLR2A	chr1:161135837-161136481	HepG2	liver:	n/a	n/a
6	E2F6	chr1:161135895-161137032	K562	blood:	n/a	n/a
7	HA-E2F1	chr1:161135725-161136533	MCF-7	breast:	n/a	n/a
8	REST	chr1:161135574-161136552	A549	lung:	n/a	chr1:161135846-161135854
9	REST	chr1:161135574-161136612	K562	blood:	n/a	chr1:161135846-161135854
10	NFYA	chr1:161135556-161136453	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr1:161135806-161136409	HUVEC	blood vessel:	n/a	n/a
12	ZNF143	chr1:161135451-161136596	GM12878	blood:	n/a	n/a
13	MAX	chr1:161135532-161136724	A549	lung:	n/a	n/a
14	MAX	chr1:161135545-161137011	K562	blood:	n/a	n/a
15	USF2	chr1:161135728-161136393	H1-hESC	embryonic stem cell:	n/a	chr1:161136091-161136107
16	POLR2A	chr1:161135817-161136475	A549	lung:	n/a	n/a
17	MAX	chr1:161135649-161136959	Hela-S3	cervix:	n/a	n/a
18	NRF1	chr1:161136062-161136498	GM12878	blood:	n/a	n/a
19	GATA1	chr1:161136169-161136741	PBDEFetal	blood:	n/a	n/a
20	CTCF	chr1:161136220-161136370	NB4	blood:	n/a	n/a
21	NFIC	chr1:161135542-161136534	GM12878	blood:	n/a	n/a
22	SIN3AK20	chr1:161135537-161136436	PFSK-1	brain:	n/a	n/a
23	CHD2	chr1:161135533-161136687	Hela-S3	cervix:	n/a	n/a
24	TCF12	chr1:161135601-161136537	ECC-1	luminal epithelium:	n/a	n/a
25	SP1	chr1:161135341-161136727	HCT-116	colon:	n/a	n/a
26	MAX	chr1:161135514-161137077	ECC-1	luminal epithelium:	n/a	n/a
27	USF1	chr1:161135877-161136400	A549	lung:	n/a	chr1:161136091-161136107
28	HCFC1	chr1:161135197-161137330	Hela-S3	cervix:	n/a	n/a
29	ZNF263	chr1:161135590-161136980	K562	blood:	n/a	n/a
30	PBX3	chr1:161135521-161136436	A549	lung:	n/a	n/a
31	ZBTB33	chr1:161135915-161136436	GM12878	blood:	n/a	chr1:161136194-161136209
32	ZBTB33	chr1:161135601-161136640	SK-N-SH	brain:	n/a	chr1:161136194-161136209
33	POLR2A	chr1:161135461-161136670	K562	blood:	n/a	n/a
34	GTF2F1	chr1:161135448-161136893	Hela-S3	cervix:	n/a	n/a
35	STAT3	chr1:161136100-161136383	GM12878	blood:	n/a	n/a
36	MAX	chr1:161135875-161137004	K562	blood:	n/a	n/a
37	CEBPB	chr1:161136043-161136367	H1-hESC	embryonic stem cell:	n/a	n/a
38	KAP1	chr1:161135600-161136845	HEK293	kidney:	n/a	n/a
39	FOXA1	chr1:161135536-161136420	HepG2	liver:	n/a	n/a
40	CTCF	chr1:161135398-161136407	GM12878	blood:	n/a	chr1:161135864-161135877
41	RUNX3	chr1:161135605-161136521	GM12878	blood:	n/a	n/a
42	GATA2	chr1:161135863-161136580	K562	blood:	n/a	n/a
43	YY1	chr1:161135527-161136520	HepG2	liver:	n/a	n/a
44	SP1	chr1:161135515-161136421	GM12878	blood:	n/a	n/a
45	ZBTB7A	chr1:161136140-161137007	K562	blood:	n/a	n/a
46	USF1	chr1:161136017-161136387	K562	blood:	n/a	chr1:161136091-161136107
47	MYC	chr1:161135662-161136438	MCF10A-Er-Src	breast:	n/a	n/a
48	SP4	chr1:161135892-161136548	H1-hESC	embryonic stem cell:	n/a	n/a
49	MYC	chr1:161135459-161136914	K562	blood:	n/a	n/a
50	ZNF384	chr1:161136159-161136595	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:161136321-161136371	HNPCEpiC	eye:	n/a
2	chr1:161136321-161136371	K562	blood:	n/a
3	chr1:161136321-161136371	HL-60	blood:	n/a
4	chr1:161136321-161136371	HRPEpiC	eye:	n/a
5	chr1:161136321-161136371	PrEC	prostate:	n/a
6	chr1:161136321-161136371	AG09309	skin:	n/a
7	chr1:161136321-161136371	HEEpiC	esophagus:	n/a
8	chr1:161136321-161136371	HRCEpiC	kidney:	n/a
9	chr1:161136321-161136371	HMEC	breast:	n/a
10	chr1:161136321-161136371	Jurkat	blood:	n/a
11	chr1:161136321-161136371	PFSK-1	brain:	n/a
12	chr1:161136321-161136371	AG10803	skin:	n/a
13	chr1:161136321-161136371	GM06990	blood:	n/a
14	chr1:161136321-161136371	HIPEpiC	eye:	n/a
15	chr1:161136321-161136371	HUVEC	blood vessel:	n/a
16	chr1:161136321-161136371	NT2-D1	testis:	n/a
17	chr1:161136321-161136371	IMR90	lung:	fetal
18	chr1:161136321-161136371	Hela-S3	cervix:	n/a
19	chr1:161136321-161136371	SKMC	muscle:	n/a
20	chr1:161136321-161136371	Hepatocyte	liver:	n/a
21	chr1:161136321-161136371	SK-N-SH_RA	brain:	n/a
22	chr1:161136321-161136371	H1-hESC	embryonic stem cell:	embryo
23	chr1:161136321-161136371	GM12878	blood:	n/a
24	chr1:161136321-161136371	T-47D	breast:	n/a
25	chr1:161136321-161136371	U87	brain:	n/a
26	chr1:161136321-161136371	CMK	blood:	n/a
27	chr1:161136321-161136371	ovcar-3	ovarian:	n/a
28	chr1:161136321-161136371	HCF	heart:	n/a
29	chr1:161136321-161136371	ECC-1	luminal epithelium:	n/a
30	chr1:161136321-161136371	Caco-2	colon:	n/a
31	chr1:161136321-161136371	HRE	kidney:	n/a
32	chr1:161136321-161136371	MCF10A-Er-Src	breast:	n/a
33	chr1:161136321-161136371	HAEpiC	amniotic membrane:	n/a
34	chr1:161136321-161136371	GM19239	blood:	n/a
35	chr1:161136321-161136371	AoSMC	blood vessel:	n/a
36	chr1:161136321-161136371	SK-N-SH	brain:	n/a
37	chr1:161136321-161136371	HCM	heart:	n/a
38	chr1:161136321-161136371	NB4	blood:	n/a
39	chr1:161136321-161136371	SK-N-MC	brain:	n/a
40	chr1:161136321-161136371	NH-A	brain:	n/a
41	chr1:161136321-161136371	NHDF-neo	bronchial:	n/a
42	chr1:161136321-161136371	MCF-7	breast:	n/a
43	chr1:161136321-161136371	HCT-116	colon:	n/a
44	chr1:161136321-161136371	NHBE	bronchial:	n/a
45	chr1:161136321-161136371	BE2_C	brain:	n/a
46	chr1:161136321-161136371	HEK293	kidney:	embryo
47	chr1:161136321-161136371	HCPEpiC	choroid plexus:	n/a
48	chr1:161136321-161136371	RPTEC	kidney:	n/a
49	chr1:161136321-161136371	AG04449	skin:	fetal
50	chr1:161136321-161136371	GM12892	blood:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161099668..161103758-chr1:161134918..161138367,5	MCF-7	breast:
2	chr1:161100027..161102916-chr1:161132751..161137101,5	K562	blood:
3	chr1:161086949..161089395-chr1:161134747..161137999,5	K562	blood:
4	chr1:161135753..161138931-chr1:161140276..161143695,4	MCF-7	breast:
5	chr1:161085942..161091087-chr1:161134747..161138869,10	K562	blood:
6	chr1:161136333..161138132-chr1:161170864..161173587,2	K562	blood:
7	chr1:161040956..161045180-chr1:161134527..161136918,3	MCF-7	breast:
8	chr1:161135373..161143326-chr1:161144272..161149580,16	MCF-7	breast:
9	chr1:161133737..161136347-chr1:161193972..161196200,2	K562	blood:
10	chr1:161100027..161103465-chr1:161134887..161137955,5	K562	blood:

No data

Variant related genes	Relation type
PPOX	TF binding region
PPOX	CpG island
ENSG00000158850	Chromatin interaction
ENSG00000143256	Chromatin interaction
ENSG00000158796	Chromatin interaction
ENSG00000158882	Chromatin interaction
ENSG00000158793	Chromatin interaction
ENSG00000143217	Chromatin interaction
ENSG00000158864	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11588018	1.00[AFR][1000 genomes]
rs3402	0.87[AMR][1000 genomes]
rs72714914	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][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	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs72714915	UFC1	cis	substantia nigra	BrainEAC
rs72714915	NDUFS2	cis	substantia nigra	BrainEAC

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161135000-161136400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:161135000-161137200	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr1:161135000-161137200	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr1:161135000-161137400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:161135000-161137400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:161135200-161136400	Active TSS	Primary T cells from cord blood	blood
7	chr1:161135200-161136800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:161135200-161137000	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr1:161135200-161137400	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr1:161135200-161137400	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr1:161135200-161137400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr1:161135200-161137400	Active TSS	A549	lung
13	chr1:161135400-161136400	Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr1:161135400-161136600	Active TSS	Colonic Mucosa	Colon
15	chr1:161135400-161136600	Active TSS	Esophagus	oesophagus
16	chr1:161135400-161136600	Active TSS	Pancreas	Pancrea
17	chr1:161135400-161136800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:161135400-161136800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:161135400-161136800	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr1:161135400-161136800	Active TSS	Colon Smooth Muscle	Colon
21	chr1:161135400-161136800	Active TSS	Left Ventricle	heart
22	chr1:161135400-161136800	Active TSS	Rectal Smooth Muscle	rectum
23	chr1:161135400-161136800	Active TSS	Hela-S3	cervix
24	chr1:161135400-161137000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:161135400-161137000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:161135400-161137000	Active TSS	Aorta	Aorta
27	chr1:161135400-161137000	Active TSS	Fetal Kidney	kidney
28	chr1:161135400-161137200	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr1:161135400-161137200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr1:161135400-161137200	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr1:161135400-161137200	Active TSS	Ovary	ovary
32	chr1:161135400-161137200	Active TSS	Psoas Muscle	Psoas
33	chr1:161135400-161137400	Active TSS	H1 Cell Line	embryonic stem cell
34	chr1:161135400-161137400	Active TSS	H9 Cell Line	embryonic stem cell
35	chr1:161135400-161137400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:161135400-161137400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:161135400-161137400	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr1:161135400-161137400	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr1:161135400-161137400	Flanking Active TSS	Fetal Muscle Trunk	muscle
40	chr1:161135400-161137400	Flanking Active TSS	HUVEC	blood vessel
41	chr1:161135400-161137800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:161135600-161136400	Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr1:161135600-161136400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr1:161135600-161136600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:161135600-161136600	Active TSS	Brain Anterior Caudate	brain
46	chr1:161135600-161136600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:161135600-161136600	Active TSS	Brain Substantia Nigra	brain
48	chr1:161135600-161136600	Active TSS	Lung	lung
49	chr1:161135600-161136600	Active TSS	Stomach Mucosa	stomach
50	chr1:161135600-161136800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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