Variant report

Variant	rs71646763
Chromosome Location	chr1:226208498-226208499
allele	A/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	chr1:226204301..226206286-chr1:226208154..226209970,2	K562	blood:
2	chr1:226184960..226187333-chr1:226206537..226209915,3	K562	blood:
3	chr1:226204895..226209098-chr1:226249962..226252500,5	K562	blood:
4	chr1:226207957..226211790-chr1:226247230..226252301,7	MCF-7	breast:
5	chr1:226201529..226203979-chr1:226206128..226208883,3	K562	blood:
6	chr1:226186179..226191581-chr1:226205120..226212715,10	K562	blood:
7	chr1:226208374..226211010-chr1:226213387..226217163,4	K562	blood:
8	chr1:226207205..226209894-chr1:226309049..226312004,2	K562	blood:
9	chr1:226205369..226210756-chr1:226213268..226218237,7	K562	blood:

No data

No data

No data

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12726662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12728649	0.86[EUR][1000 genomes]
rs12735124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12741523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16845453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17514975	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34235986	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34897537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35065132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35336028	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs36094219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3748813	0.89[ASN][1000 genomes]
rs4427371	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6698966	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71646760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs71646761	0.93[EUR][1000 genomes]
rs71646762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226204600-226210600	Weak transcription	Colonic Mucosa	Colon
2	chr1:226205000-226209000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:226205600-226209000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:226205600-226215000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:226206000-226209000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:226207400-226209000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr1:226207800-226215400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr1:226208400-226208600	Enhancers	K562	blood
9	chr1:226208400-226209200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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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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