Variant report

Variant	rs72951430
Chromosome Location	chr4:148652394-148652395
allele	A/C
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	MYC	chr4:148652335-148652952	H1-hESC	embryonic stem cell:	n/a	chr4:148652443-148652450 chr4:148652439-148652448
2	CUX1	chr4:148652363-148652833	GM12878	blood:	n/a	n/a
3	NFATC1	chr4:148652301-148652663	GM12878	blood:	n/a	n/a
4	PML	chr4:148652273-148654450	GM12878	blood:	n/a	n/a
5	CTCF	chr4:148652340-148652490	GM12865	blood:	n/a	n/a
6	MXI1	chr4:148652334-148654342	GM12878	blood:	n/a	n/a
7	MEF2A	chr4:148652264-148652830	GM12878	blood:	n/a	chr4:148652482-148652497 chr4:148652481-148652502 chr4:148652483-148652498 chr4:148652481-148652502 chr4:148652482-148652497 chr4:148652486-148652495 chr4:148652483-148652497 chr4:148652481-148652502 chr4:148652485-148652496 chr4:148652482-148652498 chr4:148652484-148652495
8	MAX	chr4:148652357-148652763	GM12878	blood:	n/a	chr4:148652443-148652450 chr4:148652439-148652448
9	CHD1	chr4:148652362-148652627	H1-hESC	embryonic stem cell:	n/a	n/a
10	MXI1	chr4:148652352-148656278	SK-N-SH	brain:	n/a	n/a
11	RELA	chr4:148652388-148653595	GM19099	blood:	n/a	n/a
12	CTCF	chr4:148652360-148652510	GM12865	blood:	n/a	n/a
13	CTCF	chr4:148652360-148652510	HPAF	blood vessel:	n/a	n/a
14	EP300	chr4:148652373-148652644	GM12878	blood:	n/a	n/a
15	MAX	chr4:148652165-148652398	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr4:148652380-148652530	GM12878	blood:	n/a	n/a
17	RUNX3	chr4:148652165-148654023	GM12878	blood:	n/a	n/a
18	MEF2C	chr4:148652187-148652761	GM12878	blood:	n/a	chr4:148652482-148652497 chr4:148652481-148652502 chr4:148652483-148652498 chr4:148652481-148652502 chr4:148652483-148652498 chr4:148652482-148652497 chr4:148652486-148652495 chr4:148652483-148652497 chr4:148652481-148652502 chr4:148652485-148652496 chr4:148652482-148652498 chr4:148652484-148652495
19	CTCF	chr4:148652380-148652530	RPTEC	kidney:	n/a	n/a
20	POLR2A	chr4:148652373-148654234	GM12891	blood:	n/a	n/a
21	CTCF	chr4:148652360-148652510	HCPEpiC	choroid plexus:	n/a	n/a
22	BHLHE40	chr4:148652002-148653459	GM12878	blood:	n/a	chr4:148653043-148653059
23	CTCF	chr4:148652385-148652778	GM12878	blood:	n/a	n/a
24	MXI1	chr4:148652073-148654559	IMR90	lung:	n/a	n/a
25	MAZ	chr4:148652370-148655136	IMR90	lung:	n/a	chr4:148652443-148652450 chr4:148652439-148652448
26	CTCF	chr4:148652340-148652490	GM12872	blood:	n/a	n/a
27	CTCF	chr4:148652340-148652490	GM12873	blood:	n/a	n/a
28	POLR2A	chr4:148652394-148656006	GM12878	blood:	n/a	n/a
29	CTCF	chr4:148652340-148652490	Caco-2	colon:	n/a	n/a
30	EBF1	chr4:148652344-148652562	GM12878	blood:	n/a	n/a
31	EBF1	chr4:148652351-148652599	GM12878	blood:	n/a	n/a
32	MTA3	chr4:148652211-148652849	GM12878	blood:	n/a	n/a
33	CTCF	chr4:148652380-148652530	GM12872	blood:	n/a	n/a
34	POLR2A	chr4:148652157-148654327	GM19099	blood:	n/a	n/a
35	POLR2A	chr4:148652364-148653194	SK-N-MC	brain:	n/a	n/a
36	CTCF	chr4:148652360-148652510	WI-38	lung:	n/a	n/a
37	EP300	chr4:148652271-148652688	GM12878	blood:	n/a	n/a
38	NFIC	chr4:148652330-148652691	GM12878	blood:	n/a	n/a
39	MEF2A	chr4:148652248-148652679	GM12878	blood:	n/a	chr4:148652482-148652497 chr4:148652481-148652502 chr4:148652483-148652498 chr4:148652481-148652502 chr4:148652482-148652497 chr4:148652486-148652495 chr4:148652483-148652497 chr4:148652481-148652502 chr4:148652485-148652496 chr4:148652482-148652498 chr4:148652484-148652495
40	RUNX3	chr4:148652203-148652881	GM12878	blood:	n/a	n/a
41	CTCF	chr4:148652320-148652470	GM12864	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:148634430..148636083-chr4:148650426..148652748,2	MCF-7	breast:
2	chr4:148602322..148606656-chr4:148649854..148654389,6	MCF-7	breast:

Variant related genes	Relation type
ARHGAP10	TF binding region
ENSG00000164169	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11725260	0.85[EUR][1000 genomes]
rs11726957	0.81[EUR][1000 genomes]
rs13128620	0.80[EUR][1000 genomes]
rs36052332	0.80[EUR][1000 genomes]
rs4490438	0.88[EUR][1000 genomes]
rs4835446	0.80[EUR][1000 genomes]
rs56224422	0.80[EUR][1000 genomes]
rs56946313	0.86[EUR][1000 genomes]
rs6828600	0.82[EUR][1000 genomes]
rs72951414	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72951426	1.00[ASN][1000 genomes]
rs72953456	0.98[EUR][1000 genomes]
rs72953462	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7666807	0.80[EUR][1000 genomes]
rs7669809	0.80[EUR][1000 genomes]
rs7673393	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs905606	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148644800-148652400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr4:148645000-148652400	Weak transcription	Liver	Liver
3	chr4:148646400-148652400	Weak transcription	A549	lung
4	chr4:148649000-148652400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr4:148649200-148652400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:148649200-148652400	Weak transcription	NHDF-Ad	bronchial
7	chr4:148649400-148652400	Weak transcription	HMEC	breast
8	chr4:148651600-148652400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:148651600-148652400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr4:148651600-148652400	Enhancers	NH-A	brain
11	chr4:148651600-148652600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:148651600-148655000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr4:148651600-148656200	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr4:148651800-148654200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr4:148652000-148652400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:148652000-148652400	Enhancers	Primary T cells fromperipheralblood	blood
17	chr4:148652000-148652400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr4:148652000-148652400	Enhancers	Fetal Thymus	thymus
19	chr4:148652000-148652600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:148652000-148654000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr4:148652000-148654200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr4:148652000-148654400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
23	chr4:148652000-148654400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr4:148652000-148654400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:148652000-148655000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
26	chr4:148652200-148652400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:148652200-148652400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:148652200-148652400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr4:148652200-148652400	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr4:148652200-148652400	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr4:148652200-148652400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr4:148652200-148652400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr4:148652200-148652400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr4:148652200-148652400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr4:148652200-148652400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr4:148652200-148652400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr4:148652200-148652400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr4:148652200-148652400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:148652200-148652400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr4:148652200-148652400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:148652200-148652400	Enhancers	Adipose Nuclei	Adipose
42	chr4:148652200-148652400	Enhancers	Aorta	Aorta
43	chr4:148652200-148652400	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr4:148652200-148652400	Enhancers	Colon Smooth Muscle	Colon
45	chr4:148652200-148652400	Enhancers	Fetal Heart	heart
46	chr4:148652200-148652400	Enhancers	Fetal Muscle Leg	muscle
47	chr4:148652200-148652400	Enhancers	Placenta	Placenta
48	chr4:148652200-148652400	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr4:148652200-148652400	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr4:148652200-148652400	Enhancers	Thymus	Thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links