Variant report

Variant	rs73145971
Chromosome Location	chr4:47916949-47916950
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	HEY1	chr4:47916252-47916964	K562	blood:	n/a	n/a
2	HNF4A	chr4:47916628-47916969	HepG2	liver:	n/a	chr4:47916828-47916840 chr4:47916823-47916836 chr4:47916821-47916839 chr4:47916823-47916837 chr4:47916830-47916845 chr4:47916823-47916837 chr4:47916824-47916836 chr4:47916825-47916837 chr4:47916823-47916838 chr4:47916819-47916841
3	CREB1	chr4:47916290-47917145	HepG2	liver:	n/a	n/a
4	POLR2A	chr4:47915779-47917050	H1-hESC	embryonic stem cell:	n/a	n/a
5	SP1	chr4:47916349-47916967	A549	lung:	n/a	n/a
6	PML	chr4:47916374-47916972	GM12878	blood:	n/a	n/a
7	MYC	chr4:47916396-47917031	HepG2	liver:	n/a	n/a
8	BHLHE40	chr4:47916342-47916998	HepG2	liver:	n/a	n/a
9	E2F6	chr4:47916091-47917115	K562	blood:	n/a	chr4:47916758-47916767
10	POLR2A	chr4:47915786-47917044	GM18526	blood:	n/a	n/a
11	ARID3A	chr4:47916261-47917097	HepG2	liver:	n/a	n/a
12	USF1	chr4:47916551-47916995	SK-N-SH_RA	brain:	n/a	n/a
13	RELA	chr4:47915447-47917043	GM15510	blood:	n/a	n/a
14	GABPA	chr4:47916266-47917067	HL-60	blood:	n/a	n/a
15	SIX5	chr4:47916364-47917062	H1-hESC	embryonic stem cell:	n/a	chr4:47916792-47916801 chr4:47916790-47916799
16	BCLAF1	chr4:47916248-47917003	GM12878	blood:	n/a	chr4:47916746-47916755
17	POLR2A	chr4:47915664-47917000	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr4:47915741-47917060	Hela-S3	cervix:	n/a	n/a
19	ELF1	chr4:47916325-47917110	MCF-7	breast:	n/a	n/a
20	YY1	chr4:47916369-47917015	ECC-1	luminal epithelium:	n/a	chr4:47916966-47916985 chr4:47916971-47916979
21	JUN	chr4:47916527-47916955	K562	blood:	n/a	chr4:47916857-47916866
22	SIN3AK20	chr4:47915690-47917128	MCF-7	breast:	n/a	n/a
23	RCOR1	chr4:47916257-47917168	GM12878	blood:	n/a	n/a
24	ZEB1	chr4:47915710-47917010	GM12878	blood:	n/a	chr4:47915954-47915961 chr4:47916921-47916933 chr4:47916923-47916930
25	POLR2A	chr4:47915723-47916962	MCF-7	breast:	n/a	n/a
26	ELF1	chr4:47916384-47917055	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr4:47915516-47917078	NB4	blood:	n/a	n/a
28	ZBTB7A	chr4:47916624-47916968	HepG2	liver:	n/a	n/a
29	YY1	chr4:47916456-47917079	GM12891	blood:	n/a	chr4:47916966-47916985 chr4:47916971-47916979
30	POLR2A	chr4:47915898-47916966	Gliobla	brain:	n/a	n/a
31	ETS1	chr4:47915867-47917087	GM12878	blood:	n/a	chr4:47916789-47916802 chr4:47916793-47916800 chr4:47916788-47916801
32	ZBTB7A	chr4:47915823-47917124	ECC-1	luminal epithelium:	n/a	n/a
33	SRF	chr4:47916376-47917040	ECC-1	luminal epithelium:	n/a	n/a
34	MAX	chr4:47915367-47917156	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr4:47915370-47917105	GM12878	blood:	n/a	n/a
36	POLR2A	chr4:47916122-47917168	HUVEC	blood vessel:	n/a	n/a
37	USF2	chr4:47916254-47917018	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr4:47916078-47917004	PFSK-1	brain:	n/a	n/a
39	SMC3	chr4:47916901-47917101	HepG2	liver:	n/a	n/a
40	TCF12	chr4:47916159-47917226	ECC-1	luminal epithelium:	n/a	n/a
41	MAX	chr4:47916341-47917178	MCF-7	breast:	n/a	n/a
42	EBF1	chr4:47916829-47917014	GM12878	blood:	n/a	n/a
43	CREB1	chr4:47916340-47917057	K562	blood:	n/a	n/a
44	ATF3	chr4:47916555-47917017	GM12878	blood:	n/a	n/a
45	CBX3	chr4:47916536-47917089	K562	blood:	n/a	n/a
46	MXI1	chr4:47915452-47917184	HepG2	liver:	n/a	n/a
47	NRF1	chr4:47916598-47917247	HepG2	liver:	n/a	chr4:47916763-47916774
48	HDAC2	chr4:47916564-47917071	HepG2	liver:	n/a	n/a
49	POLR2A	chr4:47915315-47917247	GM12891	blood:	n/a	n/a
50	MYC	chr4:47915777-47916962	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:47914296..47917191-chr4:48017364..48021197,5	MCF-7	breast:

Variant related genes	Relation type
NFXL1	TF binding region
ENSG00000198515	Chromatin interaction
ENSG00000163293	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11939959	1.00[AMR][1000 genomes]
rs4695313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4695314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56672591	1.00[AMR][1000 genomes]
rs58776528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73147911	0.98[AFR][1000 genomes];1.00[AMR][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	nsv594118	chr4:47560386-47917730	Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1013947	chr4:47915527-48052824	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv537082	chr4:47915527-48052824	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47913400-47917200	Active TSS	Muscle Satellite Cultured Cells	--
2	chr4:47914200-47917400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:47914400-47917000	Active TSS	GM12878-XiMat	blood
4	chr4:47914400-47917400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:47914400-47917600	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr4:47914400-47917600	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr4:47915000-47917200	Active TSS	HMEC	breast
8	chr4:47915000-47917400	Active TSS	H1 Cell Line	embryonic stem cell
9	chr4:47915000-47917400	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr4:47915000-47917400	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr4:47915000-47917600	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr4:47915200-47917200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:47915200-47917200	Active TSS	H9 Cell Line	embryonic stem cell
14	chr4:47915200-47917200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:47915200-47917200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:47915200-47917200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:47915200-47917200	Active TSS	Aorta	Aorta
18	chr4:47915200-47917200	Active TSS	Pancreas	Pancrea
19	chr4:47915200-47917200	Active TSS	Psoas Muscle	Psoas
20	chr4:47915200-47917400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:47915200-47917400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:47915200-47917400	Active TSS	Brain Germinal Matrix	brain
23	chr4:47915200-47917600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:47915400-47917000	Active TSS	Hela-S3	cervix
25	chr4:47915400-47917200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr4:47915400-47917200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:47915400-47917200	Active TSS	Colonic Mucosa	Colon
28	chr4:47915400-47917200	Active TSS	Fetal Kidney	kidney
29	chr4:47915400-47917200	Active TSS	Gastric	stomach
30	chr4:47915400-47917400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr4:47915400-47917400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:47915400-47917600	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr4:47915600-47917000	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr4:47915600-47917000	Active TSS	Colon Smooth Muscle	Colon
35	chr4:47915600-47917000	Active TSS	Placenta Amnion	Placenta Amnion
36	chr4:47915600-47917000	Bivalent/Poised TSS	HepG2	liver
37	chr4:47915600-47917000	Active TSS	K562	blood
38	chr4:47915600-47917200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:47915600-47917200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:47915600-47917200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr4:47915600-47917200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr4:47915600-47917200	Active TSS	Placenta	Placenta
43	chr4:47915600-47917200	Active TSS	Left Ventricle	heart
44	chr4:47915600-47917200	Active TSS	Ovary	ovary
45	chr4:47915600-47917200	Active TSS	Stomach Mucosa	stomach
46	chr4:47915600-47917200	Active TSS	NHDF-Ad	bronchial
47	chr4:47915600-47917400	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr4:47915600-47917400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:47915600-47917400	Active TSS	Fetal Intestine Large	intestine
50	chr4:47915600-47917400	Active TSS	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links