Variant report

Variant	rs72686538
Chromosome Location	chr4:120986460-120986461
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr4:120985855-120988544	MCF10A-Er-Src	breast:	n/a	chr4:120987957-120987968 chr4:120988011-120988020
2	MXI1	chr4:120986183-120989454	SK-N-SH	brain:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:120981267..120985179-chr4:120986108..120989816,4	MCF-7	breast:
2	chr4:120426318..120428351-chr4:120986302..120988038,2	K562	blood:
3	chr4:120131923..120135922-chr4:120985229..120990455,5	K562	blood:
4	chr4:120973859..120975620-chr4:120985435..120987169,2	K562	blood:
5	chr4:120230931..120233394-chr4:120986011..120987625,2	K562	blood:
6	chr4:120131661..120133788-chr4:120986266..120989312,3	K562	blood:
7	chr4:120153288..120155840-chr4:120986022..120987789,2	K562	blood:
8	chr4:120985605..120987258-chr4:121004705..121006717,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000250938	TF binding region
MAD2L1	TF binding region
ENSG00000138735	Chromatin interaction
ENSG00000178636	Chromatin interaction
ENSG00000145390	Chromatin interaction
ENSG00000164109	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10446729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10446730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11777	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs61752609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61752610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6833927	1.00[AFR][1000 genomes]
rs72668809	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72668810	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72668812	1.00[AFR][1000 genomes]
rs72668814	1.00[AFR][1000 genomes]
rs72668820	1.00[AFR][1000 genomes]
rs72668821	1.00[AFR][1000 genomes]
rs72668824	1.00[AFR][1000 genomes]
rs72668829	1.00[AFR][1000 genomes]
rs72668830	1.00[AFR][1000 genomes]
rs72668835	1.00[AFR][1000 genomes]
rs72668836	1.00[AFR][1000 genomes]
rs72668838	1.00[AFR][1000 genomes]
rs72668839	1.00[AFR][1000 genomes]
rs72668840	1.00[AFR][1000 genomes]
rs72668859	1.00[AFR][1000 genomes]
rs72668868	1.00[AFR][1000 genomes]
rs72668872	1.00[AFR][1000 genomes]
rs72668874	1.00[AFR][1000 genomes]
rs72668875	1.00[AFR][1000 genomes]
rs72668898	1.00[AFR][1000 genomes]
rs72668899	1.00[AFR][1000 genomes]
rs72668902	1.00[AFR][1000 genomes]
rs72670409	1.00[AFR][1000 genomes]
rs72670410	1.00[AFR][1000 genomes]
rs72670412	1.00[AFR][1000 genomes]
rs72670414	1.00[AFR][1000 genomes]
rs72670415	1.00[AFR][1000 genomes]
rs72670416	1.00[AFR][1000 genomes]
rs72670420	1.00[AFR][1000 genomes]
rs72670421	1.00[AFR][1000 genomes]
rs72670425	1.00[AFR][1000 genomes]
rs72670427	1.00[AFR][1000 genomes]
rs72670428	1.00[AFR][1000 genomes]
rs72670431	1.00[AFR][1000 genomes]
rs72670444	1.00[AFR][1000 genomes]
rs72686517	1.00[AFR][1000 genomes]
rs72686518	1.00[AFR][1000 genomes]
rs72686524	1.00[AFR][1000 genomes]
rs72686526	1.00[AFR][1000 genomes]
rs72686529	1.00[AFR][1000 genomes]
rs72686533	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72686534	1.00[AFR][1000 genomes]
rs72686541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72686542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72686543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72686544	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72686546	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72686547	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72686550	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72686552	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7662162	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv1007641	chr4:120884220-121555889	Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv537234	chr4:120884220-121555889	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120962200-120987200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:120971000-120987400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:120971200-120986800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr4:120971200-120987200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:120971200-120987200	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr4:120971200-120987400	Weak transcription	Left Ventricle	heart
7	chr4:120975400-120986800	Weak transcription	Primary B cells from cord blood	blood
8	chr4:120975800-120986800	Weak transcription	Primary B cells from peripheral blood	blood
9	chr4:120977400-120986600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:120977400-120986600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr4:120977400-120986800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr4:120977400-120987200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr4:120978200-120987200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr4:120978400-120986600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr4:120979600-120986800	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr4:120981200-120986800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr4:120981200-120987200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr4:120981400-120987200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr4:120982000-120987200	Weak transcription	Fetal Brain Male	brain
20	chr4:120982600-120986600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr4:120983200-120987200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr4:120983200-120987200	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr4:120983600-120986600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:120983600-120987000	Enhancers	Osteobl	bone
25	chr4:120983800-120986600	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr4:120983800-120986800	Enhancers	Fetal Heart	heart
27	chr4:120984000-120986600	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr4:120984400-120986600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:120984600-120987200	Weak transcription	Placenta	Placenta
30	chr4:120984800-120986800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr4:120985000-120986600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr4:120985000-120986600	Enhancers	Thymus	Thymus
33	chr4:120985000-120987000	Transcr. at gene 5' and 3'	Dnd41	blood
34	chr4:120985400-120986600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
35	chr4:120985400-120986600	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
36	chr4:120985400-120986800	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
37	chr4:120985400-120986800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:120985400-120987000	Enhancers	Primary T cells from cord blood	blood
39	chr4:120985400-120987000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr4:120985400-120987000	Enhancers	Fetal Lung	lung
41	chr4:120985600-120986600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:120985600-120987000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
43	chr4:120985600-120987000	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr4:120985600-120987200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr4:120985600-120987200	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr4:120985800-120986600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr4:120985800-120986600	Weak transcription	Fetal Intestine Large	intestine
48	chr4:120985800-120986800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr4:120985800-120986800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:120985800-120986800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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