Variant report

Variant	rs73083553
Chromosome Location	chr1:226276198-226276199
allele	C/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:226271544..226273166-chr1:226274162..226276596,2	K562	blood:
2	chr1:226273328..226275664-chr1:226276167..226279764,3	K562	blood:
3	chr1:226249074..226251904-chr1:226274575..226276501,2	MCF-7	breast:
4	chr1:226269914..226275147-chr1:226275590..226280617,8	MCF-7	breast:
5	chr1:226276150..226278572-chr1:226296104..226299009,3	MCF-7	breast:
6	chr1:226275598..226277765-chr1:226293845..226296301,2	MCF-7	breast:
7	chr1:226269982..226272748-chr1:226275764..226279082,4	K562	blood:
8	chr1:226274594..226276434-chr1:226308649..226310179,2	MCF-7	breast:
9	chr1:226274685..226276521-chr1:226308373..226310110,2	K562	blood:

No data

No data

No data

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10753412	0.84[AMR][1000 genomes]
rs10915943	0.85[ASN][1000 genomes]
rs4369199	0.86[AMR][1000 genomes]
rs55946391	0.81[ASN][1000 genomes]
rs60311516	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72757045	0.81[ASN][1000 genomes]
rs73083508	0.81[AFR][1000 genomes]
rs73083551	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv873232	chr1:226242772-226375267	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226271800-226277000	Weak transcription	K562	blood
2	chr1:226271800-226286200	Weak transcription	Ovary	ovary
3	chr1:226271800-226288000	Weak transcription	Right Atrium	heart
4	chr1:226271800-226288400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:226272000-226276400	Weak transcription	Placenta	Placenta
6	chr1:226272000-226276800	Weak transcription	Colonic Mucosa	Colon
7	chr1:226272000-226281000	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:226272000-226282200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr1:226272000-226285400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:226272000-226287800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr1:226272000-226288200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:226274800-226279600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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