Variant report

Variant	rs72625888
Chromosome Location	chr3:23850120-23850121
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:71)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:71 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr3:23849928-23850509	K562	blood:	n/a	n/a
2	TAL1	chr3:23849611-23850548	K562	blood:	n/a	n/a
3	PML	chr3:23849823-23850475	K562	blood:	n/a	n/a
4	TAF1	chr3:23849972-23850295	K562	blood:	n/a	n/a
5	UBTF	chr3:23849623-23850340	K562	blood:	n/a	n/a
6	GATA2	chr3:23850007-23850421	K562	blood:	n/a	n/a
7	USF1	chr3:23850059-23850501	K562	blood:	n/a	chr3:23850350-23850371 chr3:23850354-23850367
8	ARID3A	chr3:23849955-23850537	K562	blood:	n/a	n/a
9	ZMIZ1	chr3:23849757-23850426	K562	blood:	n/a	n/a
10	IRF1	chr3:23849921-23850713	K562	blood:	n/a	chr3:23850594-23850606 chr3:23850591-23850605 chr3:23850594-23850611 chr3:23850595-23850609 chr3:23850656-23850668 chr3:23850595-23850605 chr3:23850594-23850606
11	REST	chr3:23850009-23850324	K562	blood:	n/a	n/a
12	TBP	chr3:23849975-23850424	K562	blood:	n/a	n/a
13	TAF1	chr3:23849962-23850353	K562	blood:	n/a	n/a
14	POLR2A	chr3:23850043-23850385	K562	blood:	n/a	n/a
15	CEBPD	chr3:23849858-23850473	K562	blood:	n/a	n/a
16	REST	chr3:23849948-23850366	K562	blood:	n/a	n/a
17	HDAC2	chr3:23849994-23850364	K562	blood:	n/a	n/a
18	UBTF	chr3:23849754-23850371	K562	blood:	n/a	n/a
19	CEBPB	chr3:23849927-23850238	K562	blood:	n/a	n/a
20	POLR2A	chr3:23849904-23850376	K562	blood:	n/a	n/a
21	HDAC2	chr3:23849966-23850424	K562	blood:	n/a	n/a
22	MAX	chr3:23849914-23850525	K562	blood:	n/a	n/a
23	RCOR1	chr3:23849895-23850458	K562	blood:	n/a	n/a
24	TEAD4	chr3:23849825-23850527	K562	blood:	n/a	n/a
25	HCFC1	chr3:23849953-23850150	K562	blood:	n/a	n/a
26	CEBPD	chr3:23849856-23850440	K562	blood:	n/a	n/a
27	POLR2A	chr3:23849944-23850444	K562	blood:	n/a	n/a
28	CEBPB	chr3:23849968-23850396	K562	blood:	n/a	n/a
29	WRNIP1	chr3:23849748-23850315	GM12878	blood:	n/a	n/a
30	POLR2A	chr3:23849848-23850495	K562	blood:	n/a	n/a
31	ZBTB7A	chr3:23850091-23850351	K562	blood:	n/a	n/a
32	NR2F2	chr3:23849797-23850606	K562	blood:	n/a	n/a
33	NR2F2	chr3:23849966-23850444	K562	blood:	n/a	n/a
34	MXI1	chr3:23849913-23850400	GM12878	blood:	n/a	n/a
35	TRIM28	chr3:23849812-23850504	K562	blood:	n/a	n/a
36	JUND	chr3:23849962-23850489	K562	blood:	n/a	n/a
37	ZC3H11A	chr3:23849818-23850162	K562	blood:	n/a	n/a
38	MAFF	chr3:23849972-23850227	K562	blood:	n/a	n/a
39	CCNT2	chr3:23850065-23850380	K562	blood:	n/a	n/a
40	MAX	chr3:23850099-23850471	K562	blood:	n/a	n/a
41	MAZ	chr3:23850071-23850385	K562	blood:	n/a	n/a
42	ATF1	chr3:23850021-23850396	K562	blood:	n/a	n/a
43	PML	chr3:23849903-23850536	K562	blood:	n/a	n/a
44	ZNF274	chr3:23849747-23850625	K562	blood:	n/a	n/a
45	POLR2A	chr3:23850086-23850268	K562	blood:	n/a	n/a
46	ZNF143	chr3:23849974-23850500	K562	blood:	n/a	n/a
47	IRF1	chr3:23849967-23850397	K562	blood:	n/a	n/a
48	STAT5A	chr3:23849859-23850478	K562	blood:	n/a	n/a
49	CBX3	chr3:23849839-23850489	K562	blood:	n/a	n/a
50	TEAD4	chr3:23849841-23850482	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:23849778..23851567-chr3:23881436..23883574,2	K562	blood:
2	chr3:23848988..23853074-chr3:23957156..23960234,5	K562	blood:
3	chr3:23849969..23852479-chr3:23986397..23988332,3	K562	blood:

No data

Variant related genes	Relation type
UBE2E1-AS1	TF binding region
UBE2E1	TF binding region
ENSG00000197885	Chromatin interaction
ENSG00000174748	Chromatin interaction
ENSG00000174738	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs72625882	0.93[ASN][1000 genomes]
rs72625883	0.93[ASN][1000 genomes]
rs72625884	0.93[ASN][1000 genomes]
rs72625885	0.93[ASN][1000 genomes]
rs72625886	0.93[ASN][1000 genomes]
rs72625887	0.93[ASN][1000 genomes]
rs72625890	0.82[ASN][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	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv834637	chr3:23703928-23886144	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr3:23848400-23850400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr3:23848400-23850400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:23848400-23852200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:23848600-23850200	Transcr. at gene 5' and 3'	Dnd41	blood
5	chr3:23848600-23851800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr3:23848800-23850400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
7	chr3:23848800-23850400	Flanking Active TSS	K562	blood
8	chr3:23848800-23851600	Weak transcription	Spleen	Spleen
9	chr3:23848800-23851800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:23849000-23850400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:23849000-23850800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr3:23849000-23851200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
13	chr3:23849000-23851200	Enhancers	Small Intestine	intestine
14	chr3:23849000-23851600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr3:23849000-23851600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr3:23849000-23851800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:23849000-23851800	Weak transcription	Esophagus	oesophagus
18	chr3:23849000-23851800	Weak transcription	Gastric	stomach
19	chr3:23849000-23851800	Weak transcription	Lung	lung
20	chr3:23849000-23851800	Weak transcription	Pancreas	Pancrea
21	chr3:23849000-23852200	Flanking Active TSS	NHEK	skin
22	chr3:23849200-23850200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr3:23849200-23850200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr3:23849200-23850200	Weak transcription	Aorta	Aorta
25	chr3:23849200-23850400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:23849200-23850400	Enhancers	Primary T cells fromperipheralblood	blood
27	chr3:23849200-23850400	Enhancers	Liver	Liver
28	chr3:23849200-23850400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr3:23849200-23850800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr3:23849200-23850800	Weak transcription	Psoas Muscle	Psoas
31	chr3:23849200-23850800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr3:23849200-23851000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr3:23849200-23851200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:23849200-23851200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr3:23849200-23851200	Weak transcription	Fetal Intestine Large	intestine
36	chr3:23849200-23851400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:23849200-23851400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr3:23849200-23851400	Enhancers	Primary B cells from peripheral blood	blood
39	chr3:23849200-23851400	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr3:23849200-23851400	Weak transcription	NH-A	brain
41	chr3:23849200-23851600	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr3:23849200-23851600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr3:23849200-23851600	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr3:23849200-23851600	Enhancers	Colon Smooth Muscle	Colon
45	chr3:23849200-23851600	Enhancers	Fetal Stomach	stomach
46	chr3:23849200-23851600	Weak transcription	Left Ventricle	heart
47	chr3:23849200-23851600	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr3:23849200-23851800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr3:23849200-23851800	Weak transcription	Placenta	Placenta
50	chr3:23849200-23851800	Weak transcription	Ovary	ovary

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