Variant report

Variant	rs73828072
Chromosome Location	chr4:79559014-79559015
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	RELA	chr4:79558885-79560367	GM18951	blood:	n/a	n/a
2	EP300	chr4:79558934-79560251	GM12878	blood:	n/a	chr4:79560125-79560139 chr4:79560020-79560034
3	RELA	chr4:79558837-79560320	GM10847	blood:	n/a	n/a
4	EBF1	chr4:79558885-79559157	GM12878	blood:	n/a	n/a
5	ZNF143	chr4:79558901-79559161	GM12878	blood:	n/a	n/a
6	RELA	chr4:79558875-79560385	GM12891	blood:	n/a	n/a
7	RELA	chr4:79558877-79560347	GM19099	blood:	n/a	n/a
8	SMC3	chr4:79558800-79559066	GM12878	blood:	n/a	n/a
9	RELA	chr4:79558843-79560361	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:79557761..79562686-chr4:79563110..79568703,4	K562	blood:
2	chr4:79557978..79560128-chr4:79697718..79699238,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238816	TF binding region
ENSG00000251442	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17003351	1.00[AMR][1000 genomes]
rs61295695	0.96[AFR][1000 genomes];1.00[AMR][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	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79549600-79560000	Weak transcription	HMEC	breast
2	chr4:79550400-79564200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:79551400-79578200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:79553000-79561600	Weak transcription	Placenta	Placenta
5	chr4:79553200-79559200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr4:79553200-79559200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr4:79553200-79563000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr4:79554000-79561600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:79555400-79562000	Weak transcription	Brain Substantia Nigra	brain
10	chr4:79555600-79564000	Weak transcription	Fetal Intestine Large	intestine
11	chr4:79555800-79566400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:79556000-79564000	Weak transcription	Brain Hippocampus Middle	brain
13	chr4:79557200-79568000	Enhancers	Primary B cells from cord blood	blood
14	chr4:79558400-79559200	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr4:79558400-79559200	Enhancers	GM12878-XiMat	blood
16	chr4:79558400-79559800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr4:79558400-79560800	Enhancers	Primary hematopoietic stem cells	blood
18	chr4:79558400-79561000	Enhancers	Primary B cells from peripheral blood	blood
19	chr4:79558600-79559600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:79558800-79560200	Enhancers	Primary T cells from cord blood	blood
21	chr4:79558800-79560200	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr4:79558800-79561200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:79559000-79559400	Weak transcription	K562	blood
24	chr4:79559000-79560400	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr4:79559000-79560400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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