Variant report

Variant	rs72713023
Chromosome Location	chr8:125460528-125460529
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:10)
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	GATA3	chr8:125460005-125460541	T-47D	breast:	n/a	n/a
2	EP300	chr8:125459951-125460555	T-47D	breast:	n/a	chr8:125460279-125460293 chr8:125460265-125460275

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125459763..125466513-chr8:125482159..125488968,22	K562	blood:
2	chr8:125459763..125466594-chr8:125480347..125488760,16	K562	blood:
3	chr8:124792624..124795520-chr8:125459150..125461003,2	K562	blood:
4	chr8:125448058..125451036-chr8:125458911..125461802,2	MCF-7	breast:
5	chr8:125209307..125211794-chr8:125460227..125463007,2	K562	blood:
6	chr8:125458816..125460797-chr8:125549847..125552574,2	MCF-7	breast:
7	chr8:125458853..125460594-chr8:125466039..125468256,2	K562	blood:
8	chr7:150781876..150784323-chr8:125460204..125463130,2	MCF-7	breast:
9	chr8:125458285..125469406-chr8:125482519..125490004,41	MCF-7	breast:
10	chr8:125459427..125466261-chr8:125549985..125555147,10	K562	blood:

No data

Variant related genes	Relation type
TRMT12	TF binding region
ENSG00000245149	Chromatin interaction
ENSG00000133612	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000176853	Chromatin interaction
ENSG00000170881	Chromatin interaction
ENSG00000147687	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10956186	0.85[EUR][1000 genomes]
rs16899643	0.85[EUR][1000 genomes]
rs16899656	0.85[EUR][1000 genomes]
rs16899660	0.85[EUR][1000 genomes]
rs17298171	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3812470	0.85[EUR][1000 genomes]
rs3812473	0.86[EUR][1000 genomes]
rs4330675	0.85[EUR][1000 genomes]
rs4527852	0.85[EUR][1000 genomes]
rs4613980	0.86[EUR][1000 genomes]
rs4621790	0.86[EUR][1000 genomes]
rs57929284	0.85[EUR][1000 genomes]
rs6981043	0.86[EUR][1000 genomes]
rs6989097	0.85[EUR][1000 genomes]
rs6997089	0.85[EUR][1000 genomes]
rs72713019	0.83[EUR][1000 genomes]
rs72713030	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72713032	0.85[EUR][1000 genomes]
rs72713042	0.85[EUR][1000 genomes]
rs72713045	0.85[EUR][1000 genomes]
rs72713053	0.85[EUR][1000 genomes]
rs72713055	0.85[EUR][1000 genomes]
rs72713059	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72713071	0.81[EUR][1000 genomes]
rs72713073	0.85[EUR][1000 genomes]
rs72713075	0.85[EUR][1000 genomes]
rs72713077	0.85[EUR][1000 genomes]
rs72713084	0.83[EUR][1000 genomes]
rs72713096	0.83[EUR][1000 genomes]
rs72713098	0.83[EUR][1000 genomes]
rs73704274	0.85[EUR][1000 genomes]
rs9643197	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1034768	chr8:125323011-125481733	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv531508	chr8:125390194-125587953	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	nsv891430	chr8:125431030-125485027	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1017848	chr8:125432689-125489052	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
6	nsv891431	chr8:125437811-125485027	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv891432	chr8:125438093-125485027	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv891433	chr8:125438093-125498547	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125450800-125462600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:125453200-125461800	Weak transcription	HMEC	breast
3	chr8:125456200-125462200	Weak transcription	Psoas Muscle	Psoas
4	chr8:125459200-125460600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:125459200-125461000	Enhancers	K562	blood
6	chr8:125459400-125460600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:125459400-125462000	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr8:125459800-125461400	Enhancers	Colonic Mucosa	Colon
9	chr8:125459800-125462000	Weak transcription	Adipose Nuclei	Adipose
10	chr8:125459800-125462200	Weak transcription	NHLF	lung
11	chr8:125460000-125460600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:125460000-125460600	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr8:125460000-125460800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:125460000-125462000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr8:125460000-125462000	Weak transcription	Hela-S3	cervix
16	chr8:125460000-125462000	Weak transcription	Osteobl	bone
17	chr8:125460000-125462200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:125460200-125460600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:125460200-125461200	Weak transcription	HepG2	liver
20	chr8:125460200-125461600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr8:125460200-125462000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:125460200-125462000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr8:125460200-125462200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:125460200-125462400	Weak transcription	HSMM	muscle
25	chr8:125460400-125460600	Enhancers	Placenta	Placenta
26	chr8:125460400-125462000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:125460400-125462000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:125460400-125462000	Weak transcription	NHDF-Ad	bronchial
29	chr8:125460400-125462200	Weak transcription	HSMMtube	muscle
30	chr8:125460400-125462400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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