Variant report

Variant	rs72862567
Chromosome Location	chr4:79861085-79861086
allele	C/T
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	BHLHE40	chr4:79860381-79861177	GM12878	blood:	n/a	chr4:79860385-79860401 chr4:79860450-79860466 chr4:79860679-79860695
2	MYC	chr4:79860570-79861327	MCF10A-Er-Src	breast:	n/a	chr4:79861006-79861016
3	MAX	chr4:79860863-79861111	H1-hESC	embryonic stem cell:	n/a	chr4:79861006-79861016
4	MAX	chr4:79860127-79861173	SK-N-SH	brain:	n/a	chr4:79861006-79861016
5	CBX3	chr4:79860441-79861108	K562	blood:	n/a	n/a
6	RAD21	chr4:79860277-79861105	IMR90	lung:	n/a	chr4:79860502-79860516 chr4:79860414-79860423
7	MXI1	chr4:79860018-79861422	IMR90	lung:	n/a	n/a
8	POLR2A	chr4:79860258-79861103	K562	blood:	n/a	n/a
9	MAX	chr4:79860076-79861252	A549	lung:	n/a	chr4:79861006-79861016
10	MAX	chr4:79860055-79861116	HepG2	liver:	n/a	chr4:79861006-79861016
11	POLR2A	chr4:79860184-79861343	MCF10A-Er-Src	breast:	n/a	n/a
12	MAX	chr4:79860437-79861173	ECC-1	luminal epithelium:	n/a	chr4:79861006-79861016
13	MYC	chr4:79860400-79861142	K562	blood:	n/a	chr4:79861006-79861016
14	MAX	chr4:79860180-79861117	K562	blood:	n/a	chr4:79861006-79861016
15	MAX	chr4:79860292-79861142	HepG2	liver:	n/a	chr4:79861006-79861016
16	E2F6	chr4:79860473-79861094	A549	lung:	n/a	chr4:79860723-79860730 chr4:79860590-79860599 chr4:79860727-79860737
17	POLR2A	chr4:79860013-79861389	Raji	blood:	n/a	n/a
18	JUN	chr4:79860504-79861124	K562	blood:	n/a	n/a
19	MYC	chr4:79860264-79861187	MCF10A-Er-Src	breast:	n/a	chr4:79861006-79861016
20	MAX	chr4:79860874-79861093	K562	blood:	n/a	chr4:79861006-79861016
21	MYC	chr4:79860369-79861129	K562	blood:	n/a	chr4:79861006-79861016
22	TBP	chr4:79860350-79861242	K562	blood:	n/a	n/a
23	TBL1XR1	chr4:79860883-79861183	K562	blood:	n/a	n/a
24	POLR2A	chr4:79859671-79861523	MCF10A-Er-Src	breast:	n/a	n/a
25	MYC	chr4:79860305-79861367	NB4	blood:	n/a	chr4:79861006-79861016
26	POLR2A	chr4:79860470-79861133	SK-N-MC	brain:	n/a	n/a
27	KAP1	chr4:79860249-79861136	HEK293	kidney:	n/a	n/a
28	E2F6	chr4:79860127-79861087	K562	blood:	n/a	chr4:79860452-79860462 chr4:79860723-79860730 chr4:79860590-79860599 chr4:79860387-79860397 chr4:79860727-79860737
29	HCFC1	chr4:79860269-79861132	K562	blood:	n/a	n/a
30	POLR2A	chr4:79860170-79861136	GM19099	blood:	n/a	n/a
31	HCFC1	chr4:79860055-79861237	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr4:79859453-79861159	PBDE	blood:	n/a	n/a
33	MAX	chr4:79860075-79861203	NB4	blood:	n/a	chr4:79861006-79861016
34	E2F4	chr4:79860503-79861159	MCF10A-Er-Src	breast:	n/a	chr4:79860723-79860730 chr4:79860590-79860599 chr4:79860727-79860737
35	CEBPB	chr4:79860397-79861306	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr4:79859990-79861131	Hela-S3	cervix:	n/a	n/a
37	MAX	chr4:79860433-79861091	GM12878	blood:	n/a	chr4:79861006-79861016
38	RCOR1	chr4:79859886-79861203	K562	blood:	n/a	n/a
39	MAX	chr4:79860059-79861207	SK-N-SH	brain:	n/a	chr4:79861006-79861016
40	MXI1	chr4:79858977-79861705	SK-N-SH	brain:	n/a	n/a
41	BHLHE40	chr4:79860453-79861141	K562	blood:	n/a	chr4:79860679-79860695

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:79861064-79861114	HNPCEpiC	eye:	n/a
2	chr4:79861064-79861114	AG09309	skin:	n/a
3	chr4:79861064-79861114	GM12892	blood:	n/a
4	chr4:79861064-79861114	HCF	heart:	n/a
5	chr4:79861064-79861114	AG09319	gingival:	n/a
6	chr4:79861064-79861114	PFSK-1	brain:	n/a
7	chr4:79861064-79861114	HUVEC	blood vessel:	n/a
8	chr4:79861064-79861114	MCF-7	breast:	n/a
9	chr4:79861064-79861114	NHBE	bronchial:	n/a
10	chr4:79861064-79861114	AoSMC	blood vessel:	n/a
11	chr4:79861064-79861114	Jurkat	blood:	n/a
12	chr4:79861064-79861114	T-47D	breast:	n/a
13	chr4:79861064-79861114	NT2-D1	testis:	n/a
14	chr4:79861064-79861114	HIPEpiC	eye:	n/a
15	chr4:79861064-79861114	GM06990	blood:	n/a
16	chr4:79861064-79861114	PANC-1	pancreas:	n/a
17	chr4:79861064-79861114	HRE	kidney:	n/a
18	chr4:79861064-79861114	HL-60	blood:	n/a
19	chr4:79861064-79861114	HRPEpiC	eye:	n/a
20	chr4:79861064-79861114	CMK	blood:	n/a
21	chr4:79861064-79861114	HEEpiC	esophagus:	n/a
22	chr4:79861064-79861114	GM19239	blood:	n/a
23	chr4:79861064-79861114	HCM	heart:	n/a
24	chr4:79861064-79861114	NHDF-neo	bronchial:	n/a
25	chr4:79861064-79861114	HPAEpiC	pulmonary alveolar:	n/a
26	chr4:79861064-79861114	K562	blood:	n/a
27	chr4:79861064-79861114	SKMC	muscle:	n/a
28	chr4:79861064-79861114	SK-N-MC	brain:	n/a
29	chr4:79861064-79861114	SK-N-SH_RA	brain:	n/a
30	chr4:79861064-79861114	HRCEpiC	kidney:	n/a
31	chr4:79861064-79861114	ProgFib	skin:	n/a
32	chr4:79861064-79861114	HMEC	breast:	n/a
33	chr4:79861064-79861114	Hepatocyte	liver:	n/a
34	chr4:79861064-79861114	HCPEpiC	choroid plexus:	n/a
35	chr4:79861064-79861114	GM12891	blood:	n/a
36	chr4:79861064-79861114	BJ	skin:	n/a
37	chr4:79861064-79861114	A549	lung:	n/a
38	chr4:79861064-79861114	H1-hESC	embryonic stem cell:	embryo
39	chr4:79861064-79861114	HepG2	liver:	n/a
40	chr4:79861064-79861114	SAEC	small airway:	n/a
41	chr4:79861064-79861114	ovcar-3	ovarian:	n/a
42	chr4:79861064-79861114	LNCaP	prostate:	n/a
43	chr4:79861064-79861114	SK-N-SH	brain:	n/a
44	chr4:79861064-79861114	AG04449	skin:	fetal
45	chr4:79861064-79861114	MCF10A-Er-Src	breast:	n/a
46	chr4:79861064-79861114	ECC-1	luminal epithelium:	n/a
47	chr4:79861064-79861114	PrEC	prostate:	n/a
48	chr4:79861064-79861114	Caco-2	colon:	n/a
49	chr4:79861064-79861114	NB4	blood:	n/a
50	chr4:79861064-79861114	AG10803	skin:	n/a

Variant related genes	Relation type
PAQR3	TF binding region
PAQR3	CpG island

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17003516	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55884183	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7683716	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879504	chr4:79759796-79874275	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv829979	chr4:79819168-80019159	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1000907	chr4:79838948-80224764	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	esv3392523	chr4:79859553-79862101	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79859200-79861200	Active TSS	H9 Cell Line	embryonic stem cell
2	chr4:79859200-79861200	Active TSS	NHLF	lung
3	chr4:79859200-79861400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr4:79859200-79861400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr4:79859400-79861200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:79859400-79861200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:79859400-79861200	Active TSS	Brain Substantia Nigra	brain
8	chr4:79859400-79861200	Active TSS	Hela-S3	cervix
9	chr4:79859400-79861400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:79859400-79861400	Active TSS	Fetal Brain Female	brain
11	chr4:79859400-79861400	Active TSS	NHDF-Ad	bronchial
12	chr4:79859400-79861600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:79859400-79861600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:79859600-79861200	Active TSS	H1 Cell Line	embryonic stem cell
15	chr4:79859600-79861200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:79859600-79861200	Active TSS	Aorta	Aorta
17	chr4:79859600-79861200	Active TSS	Colonic Mucosa	Colon
18	chr4:79859600-79861200	Active TSS	Fetal Muscle Trunk	muscle
19	chr4:79859600-79861200	Active TSS	Ovary	ovary
20	chr4:79859600-79861200	Active TSS	Psoas Muscle	Psoas
21	chr4:79859600-79861200	Active TSS	Right Atrium	heart
22	chr4:79859600-79861400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr4:79859600-79861400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:79859600-79861400	Active TSS	Fetal Brain Male	brain
25	chr4:79859600-79861400	Active TSS	Thymus	Thymus
26	chr4:79859800-79861200	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr4:79859800-79861200	Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr4:79859800-79861200	Active TSS	Brain Anterior Caudate	brain
29	chr4:79859800-79861200	Active TSS	Colon Smooth Muscle	Colon
30	chr4:79859800-79861200	Active TSS	Fetal Intestine Large	intestine
31	chr4:79859800-79861200	Active TSS	Placenta	Placenta
32	chr4:79859800-79861200	Active TSS	Left Ventricle	heart
33	chr4:79859800-79861200	Active TSS	Pancreas	Pancrea
34	chr4:79859800-79861200	Active TSS	Right Ventricle	heart
35	chr4:79859800-79861200	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr4:79859800-79861200	Active TSS	A549	lung
37	chr4:79859800-79861600	Active TSS	Muscle Satellite Cultured Cells	--
38	chr4:79859800-79861600	Active TSS	HSMMtube	muscle
39	chr4:79860000-79861200	Active TSS	Brain Cingulate Gyrus	brain
40	chr4:79860000-79861200	Active TSS	Brain Hippocampus Middle	brain
41	chr4:79860000-79861200	Active TSS	Fetal Stomach	stomach
42	chr4:79860000-79861200	Active TSS	HSMM	muscle
43	chr4:79860000-79861400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:79860000-79861400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr4:79860000-79861400	Active TSS	Fetal Lung	lung
46	chr4:79860000-79861400	Active TSS	Fetal Muscle Leg	muscle
47	chr4:79860000-79861400	Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr4:79860000-79861400	Active TSS	NH-A	brain
49	chr4:79860000-79861600	Active TSS	Rectal Smooth Muscle	rectum
50	chr4:79860200-79861200	Active TSS	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links