Variant report

Variant	rs3792618
Chromosome Location	chr4:48230860-48230861
allele	A/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	CTCF	chr4:48230720-48230870	GM12869	blood:	n/a	chr4:48230767-48230776
2	CTCF	chr4:48230720-48230870	GM12873	blood:	n/a	chr4:48230767-48230776
3	CTCF	chr4:48230760-48230910	HCM	heart:	n/a	chr4:48230767-48230776
4	CTCF	chr4:48230720-48230870	GM12868	blood:	n/a	chr4:48230767-48230776
5	CTCF	chr4:48230760-48230910	GM12873	blood:	n/a	chr4:48230767-48230776
6	CTCF	chr4:48230720-48230870	AoAF	blood vessel:	n/a	chr4:48230767-48230776
7	CTCF	chr4:48230760-48230910	GM12874	blood:	n/a	chr4:48230767-48230776
8	FOS	chr4:48230856-48231041	MCF10A-Er-Src	breast:	n/a	n/a
9	CTCF	chr4:48230760-48230910	NHEK	skin:	n/a	chr4:48230767-48230776
10	GATA1	chr4:48230832-48231445	PBDE	blood:	n/a	chr4:48231154-48231170
11	GATA2	chr4:48230841-48231285	SH-SY5Y	brain:	n/a	chr4:48231154-48231170
12	CTCF	chr4:48230820-48230970	GM12864	blood:	n/a	n/a
13	GATA3	chr4:48230778-48231384	SK-N-SH	brain:	n/a	chr4:48231154-48231170
14	CUX1	chr4:48230752-48230888	K562	blood:	n/a	n/a
15	CTCF	chr4:48230720-48230870	HCPEpiC	choroid plexus:	n/a	chr4:48230767-48230776
16	CTCF	chr4:48230740-48230890	GM12872	blood:	n/a	chr4:48230767-48230776

Variant related genes	Relation type
TEC	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1812667	0.85[EUR][1000 genomes]
rs55666922	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62309355	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62309358	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62309359	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62311460	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62311477	0.85[EUR][1000 genomes]
rs62311483	0.82[EUR][1000 genomes]
rs62311497	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2763359	chr4:48189710-48290233	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
4	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48214800-48231200	Weak transcription	Liver	Liver
2	chr4:48215600-48232400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr4:48220400-48242200	Weak transcription	Aorta	Aorta
4	chr4:48222000-48235000	Weak transcription	Fetal Thymus	thymus
5	chr4:48223200-48231400	Weak transcription	Fetal Intestine Small	intestine
6	chr4:48224600-48231200	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr4:48225800-48231400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr4:48226400-48231200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:48227000-48231800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:48227400-48231200	Weak transcription	Fetal Lung	lung
11	chr4:48228200-48232200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:48228400-48231200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:48228400-48231400	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr4:48228600-48231200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr4:48228800-48236200	Weak transcription	Primary B cells from cord blood	blood
16	chr4:48229600-48231200	Genic enhancers	K562	blood
17	chr4:48230000-48231400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr4:48230000-48236400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:48230000-48236400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr4:48230000-48236600	Weak transcription	Stomach Mucosa	stomach
21	chr4:48230000-48245600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:48230200-48231400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:48230200-48231400	Strong transcription	GM12878-XiMat	blood

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