Variant report

Variant	rs72813854
Chromosome Location	chr5:114633095-114633096
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	MAZ	chr5:114631381-114633200	K562	blood:	n/a	n/a
2	STAT3	chr5:114632913-114633113	MCF10A-Er-Src	breast:	n/a	chr5:114632971-114632982

No.	Distal block	Cell Line	Cell type
1	chr5:114619634..114629040-chr5:114629951..114633566,14	MCF-7	breast:
2	chr5:114630838..114633826-chr5:114960976..114962823,3	MCF-7	breast:
3	chr5:114596880..114599090-chr5:114631128..114633570,2	MCF-7	breast:
4	chr5:114630836..114633202-chr5:115177399..115179913,2	MCF-7	breast:
5	chr5:114596551..114598881-chr5:114630526..114633575,4	MCF-7	breast:

Variant related genes	Relation type
CCDC112	TF binding region
ENSG00000251201	Chromatin interaction
ENSG00000134970	Chromatin interaction
ENSG00000177879	Chromatin interaction
ENSG00000271797	Chromatin interaction
ENSG00000250197	Chromatin interaction
ENSG00000145782	Chromatin interaction
ENSG00000243414	Chromatin interaction
ENSG00000164219	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2161196	0.87[AFR][1000 genomes]
rs73780096	1.00[ASN][1000 genomes]
rs7734924	0.81[AFR][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	esv3409295	chr5:114631078-114633926	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	esv3403466	chr5:114632003-114633201	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114630600-114633200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:114631000-114633200	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr5:114631200-114633200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:114631200-114633200	Active TSS	Thymus	Thymus
5	chr5:114632200-114641800	Weak transcription	Stomach Mucosa	stomach
6	chr5:114632400-114634600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr5:114632400-114634600	Weak transcription	Spleen	Spleen
8	chr5:114632600-114633200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr5:114632600-114633200	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr5:114632600-114633200	Enhancers	Brain Substantia Nigra	brain
11	chr5:114632600-114633400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr5:114632800-114633200	Enhancers	H9 Cell Line	embryonic stem cell
13	chr5:114632800-114633200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr5:114632800-114633200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr5:114632800-114633200	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr5:114632800-114633200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:114632800-114633200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:114632800-114633200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
19	chr5:114632800-114634400	Weak transcription	Psoas Muscle	Psoas
20	chr5:114632800-114634400	Weak transcription	K562	blood
21	chr5:114633000-114633200	Enhancers	Primary B cells from peripheral blood	blood
22	chr5:114633000-114633200	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr5:114633000-114633200	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr5:114633000-114633200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
25	chr5:114633000-114633200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
26	chr5:114633000-114633400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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