Variant report

Variant	rs28554010
Chromosome Location	chr8:117814305-117814306
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:117808270..117810364-chr8:117813434..117815653,2	K562	blood:
2	chr8:117813053..117814950-chr8:117817591..117820100,2	K562	blood:
3	chr8:117804720..117807505-chr8:117812796..117815488,2	K562	blood:
4	chr8:117798017..117801805-chr8:117813902..117817416,4	MCF-7	breast:
5	chr8:117813605..117816569-chr8:117845773..117847387,2	MCF-7	breast:
6	chr8:117810889..117812580-chr8:117813438..117815076,2	MCF-7	breast:
7	chr8:117808270..117811367-chr8:117813434..117817059,3	K562	blood:
8	chr8:117776939..117779580-chr8:117812102..117815545,3	MCF-7	breast:
9	chr8:117812604..117814954-chr8:117885470..117887763,3	MCF-7	breast:
10	chr8:117804606..117806220-chr8:117812796..117814658,2	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000264875	Chromatin interaction
ENSG00000164754	Chromatin interaction
ENSG00000147677	Chromatin interaction
ENSG00000147679	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10087312	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10105870	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10112726	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10505289	0.98[EUR][1000 genomes]
rs1133950	0.98[EUR][1000 genomes]
rs16888720	0.98[EUR][1000 genomes]
rs4492407	0.81[EUR][1000 genomes]
rs59540933	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60927118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67123278	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs921066	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1027259	chr8:117790928-117842055	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1034015	chr8:117790928-117843979	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117780400-117830200	Weak transcription	Aorta	Aorta
2	chr8:117809600-117814800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:117812400-117815800	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr8:117812600-117815400	Enhancers	Placenta Amnion	Placenta Amnion
5	chr8:117812600-117815600	Enhancers	Fetal Heart	heart
6	chr8:117813000-117816800	Enhancers	Placenta	Placenta
7	chr8:117813400-117814800	Weak transcription	Fetal Lung	lung
8	chr8:117813800-117818000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:117814000-117814400	Weak transcription	HSMMtube	muscle
10	chr8:117814000-117814800	Weak transcription	Fetal Muscle Leg	muscle
11	chr8:117814000-117814800	Weak transcription	Left Ventricle	heart
12	chr8:117814000-117814800	Weak transcription	Psoas Muscle	Psoas
13	chr8:117814000-117814800	Weak transcription	Right Ventricle	heart
14	chr8:117814200-117814600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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