Variant report

Variant	rs72856373
Chromosome Location	chr2:31361912-31361913
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	MAX	chr2:31360523-31362014	H1-hESC	embryonic stem cell:	n/a	chr2:31361683-31361692 chr2:31361674-31361690 chr2:31361684-31361691
2	CTCF	chr2:31360624-31361993	MCF-7	breast:	n/a	chr2:31361855-31361863 chr2:31360996-31361009 chr2:31361855-31361868
3	FOXA2	chr2:31361332-31361929	A549	lung:	n/a	n/a
4	CTCF	chr2:31359180-31362243	SK-N-SH	brain:	n/a	chr2:31361855-31361863 chr2:31360996-31361009 chr2:31361855-31361868
5	MAX	chr2:31361372-31361912	SK-N-SH	brain:	n/a	chr2:31361683-31361692 chr2:31361674-31361690 chr2:31361684-31361691
6	CTCF	chr2:31361251-31361922	A549	lung:	n/a	chr2:31361855-31361863 chr2:31361855-31361868
7	SP1	chr2:31361239-31361966	A549	lung:	n/a	chr2:31361560-31361569 chr2:31361387-31361399 chr2:31361559-31361568 chr2:31361563-31361575 chr2:31361558-31361570 chr2:31361558-31361570 chr2:31361560-31361569
8	MAX	chr2:31360799-31361924	SK-N-SH	brain:	n/a	chr2:31361683-31361692 chr2:31361674-31361690 chr2:31361684-31361691
9	MXI1	chr2:31359325-31362237	SK-N-SH	brain:	n/a	n/a
10	E2F6	chr2:31359970-31362668	H1-hESC	embryonic stem cell:	n/a	chr2:31361662-31361669 chr2:31361564-31361576 chr2:31361662-31361669 chr2:31361939-31361956 chr2:31361675-31361685 chr2:31360317-31360327 chr2:31360586-31360600 chr2:31361662-31361669 chr2:31361939-31361956 chr2:31361636-31361646 chr2:31361082-31361092
11	E2F6	chr2:31360411-31362213	A549	lung:	n/a	chr2:31361662-31361669 chr2:31361564-31361576 chr2:31361662-31361669 chr2:31361939-31361956 chr2:31361675-31361685 chr2:31360586-31360600 chr2:31361662-31361669 chr2:31361939-31361956 chr2:31361636-31361646 chr2:31361082-31361092
12	HDAC2	chr2:31360759-31361938	MCF-7	breast:	n/a	n/a
13	HA-E2F1	chr2:31360607-31362123	MCF-7	breast:	n/a	chr2:31361662-31361669 chr2:31361564-31361576 chr2:31361662-31361669 chr2:31361939-31361956 chr2:31361675-31361685 chr2:31361662-31361669 chr2:31361939-31361956 chr2:31361636-31361646 chr2:31361082-31361092
14	MAX	chr2:31359804-31362170	A549	lung:	n/a	chr2:31361683-31361692 chr2:31362133-31362143 chr2:31361674-31361690 chr2:31361684-31361691
15	MAX	chr2:31360509-31362085	HCT-116	colon:	n/a	chr2:31361683-31361692 chr2:31361674-31361690 chr2:31361684-31361691
16	MYC	chr2:31360459-31362050	A549	lung:	n/a	chr2:31361683-31361692 chr2:31361674-31361690 chr2:31361684-31361691
17	POLR2A	chr2:31360555-31361990	SK-N-MC	brain:	n/a	n/a
18	RAD21	chr2:31360654-31361929	A549	lung:	n/a	chr2:31361426-31361438 chr2:31361678-31361692 chr2:31361599-31361612
19	CTCF	chr2:31361800-31361950	HA-sp	spinal cord:	n/a	chr2:31361855-31361863 chr2:31361855-31361868
20	TCF12	chr2:31360613-31362088	A549	lung:	n/a	chr2:31361748-31361756 chr2:31361767-31361777 chr2:31361607-31361614 chr2:31361082-31361092
21	EBF1	chr2:31361454-31362022	GM12878	blood:	n/a	chr2:31361830-31361841
22	GATA3	chr2:31360706-31362047	A549	lung:	n/a	n/a
23	RAD21	chr2:31360718-31361914	H1-hESC	embryonic stem cell:	n/a	chr2:31361426-31361438 chr2:31361678-31361692 chr2:31361599-31361612
24	BCL3	chr2:31361427-31361928	A549	lung:	n/a	chr2:31361658-31361667
25	MAX	chr2:31359873-31362113	A549	lung:	n/a	chr2:31361683-31361692 chr2:31361674-31361690 chr2:31361684-31361691
26	RAD21	chr2:31359432-31362184	SK-N-SH	brain:	n/a	chr2:31359911-31359924 chr2:31361426-31361438 chr2:31361678-31361692 chr2:31360499-31360513 chr2:31361599-31361612
27	CTCF	chr2:31359153-31362377	A549	lung:	n/a	chr2:31361855-31361863 chr2:31360996-31361009 chr2:31361855-31361868
28	MAX	chr2:31360007-31362010	H1-hESC	embryonic stem cell:	n/a	chr2:31361683-31361692 chr2:31361674-31361690 chr2:31361684-31361691
29	SP1	chr2:31360716-31361974	A549	lung:	n/a	chr2:31361560-31361569 chr2:31361387-31361399 chr2:31361559-31361568 chr2:31361563-31361575 chr2:31361558-31361570 chr2:31361558-31361570 chr2:31361560-31361569
30	E2F6	chr2:31360021-31361981	H1-hESC	embryonic stem cell:	n/a	chr2:31361662-31361669 chr2:31361564-31361576 chr2:31361662-31361669 chr2:31361939-31361956 chr2:31361675-31361685 chr2:31360317-31360327 chr2:31360586-31360600 chr2:31361662-31361669 chr2:31361939-31361956 chr2:31361636-31361646 chr2:31361082-31361092
31	MAX	chr2:31360688-31362016	HCT-116	colon:	n/a	chr2:31361683-31361692 chr2:31361674-31361690 chr2:31361684-31361691
32	E2F6	chr2:31360529-31361944	A549	lung:	n/a	chr2:31361662-31361669 chr2:31361564-31361576 chr2:31361662-31361669 chr2:31361675-31361685 chr2:31360586-31360600 chr2:31361662-31361669 chr2:31361636-31361646 chr2:31361082-31361092
33	POLR2A	chr2:31359635-31361923	Raji	blood:	n/a	n/a
34	CREB1	chr2:31360642-31361912	A549	lung:	n/a	n/a
35	MAX	chr2:31360591-31361987	H1-hESC	embryonic stem cell:	n/a	chr2:31361683-31361692 chr2:31361674-31361690 chr2:31361684-31361691

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:31348773..31351647-chr2:31359918..31362358,2	MCF-7	breast:

Variant related genes	Relation type
GALNT14	TF binding region
ENSG00000158089	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs61603879	1.00[AFR][1000 genomes]
rs6718505	1.00[AFR][1000 genomes]
rs72856367	0.98[AFR][1000 genomes]
rs72856375	1.00[AFR][1000 genomes]
rs72856377	0.88[AFR][1000 genomes]
rs72856379	1.00[AFR][1000 genomes]
rs72856381	1.00[AFR][1000 genomes]
rs72856387	0.84[AFR][1000 genomes]
rs72857603	0.94[AFR][1000 genomes]
rs72857606	0.94[AFR][1000 genomes]
rs745523	1.00[AFR][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	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31359600-31362200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr2:31359800-31362000	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr2:31359800-31362000	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr2:31359800-31362000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr2:31360000-31362000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:31360000-31362000	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr2:31360000-31362000	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr2:31360200-31362000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:31360200-31362000	Active TSS	Brain Cingulate Gyrus	brain
10	chr2:31360400-31362000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:31360400-31362000	Active TSS	Brain Anterior Caudate	brain
12	chr2:31360600-31362000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:31360800-31365400	Enhancers	Fetal Brain Male	brain
14	chr2:31361200-31362000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:31361200-31362000	Bivalent Enhancer	Placenta	Placenta
16	chr2:31361400-31362000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
17	chr2:31361400-31362200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
18	chr2:31361400-31362200	Bivalent Enhancer	Fetal Thymus	thymus
19	chr2:31361600-31362000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
20	chr2:31361600-31362000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
21	chr2:31361600-31362000	Flanking Active TSS	Brain Germinal Matrix	brain
22	chr2:31361600-31362000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr2:31361600-31362000	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr2:31361600-31362000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
25	chr2:31361600-31362000	Bivalent/Poised TSS	NHEK	skin
26	chr2:31361800-31362000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
27	chr2:31361800-31362000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:31361800-31362000	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:31361800-31362000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:31361800-31362000	Enhancers	Adipose Nuclei	Adipose
31	chr2:31361800-31362000	Enhancers	Brain Angular Gyrus	brain
32	chr2:31361800-31362000	Bivalent Enhancer	Brain Hippocampus Middle	brain
33	chr2:31361800-31362000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
34	chr2:31361800-31362000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
35	chr2:31361800-31362000	Bivalent Enhancer	Fetal Intestine Small	intestine
36	chr2:31361800-31362000	Enhancers	Spleen	Spleen
37	chr2:31361800-31362000	Flanking Active TSS	A549	lung
38	chr2:31361800-31362200	Enhancers	Primary B cells from peripheral blood	blood
39	chr2:31361800-31362200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr2:31361800-31363400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:31361800-31365200	Enhancers	Fetal Brain Female	brain
42	chr2:31361800-31369400	Weak transcription	Right Atrium	heart

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