Variant report

Variant	rs73067339
Chromosome Location	chr19:52054309-52054310
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51970702..51973310-chr19:52051081..52054707,4	K562	blood:
2	chr19:52008070..52014830-chr19:52047100..52054399,12	K562	blood:
3	chr19:52036245..52040151-chr19:52052262..52055120,4	K562	blood:
4	chr19:52054163..52056571-chr19:52069054..52071841,3	K562	blood:
5	chr19:52053557..52056461-chr19:52303271..52305092,2	K562	blood:
6	chr19:52053867..52056450-chr19:52073512..52076767,3	K562	blood:
7	chr19:52005076..52007479-chr19:52052391..52054693,2	K562	blood:
8	chr19:51963894..51965992-chr19:52053600..52057338,3	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000269580	Chromatin interaction
ENSG00000268957	Chromatin interaction
ENSG00000105497	Chromatin interaction
ENSG00000268839	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1466302	0.96[ASN][1000 genomes]
rs1551159	0.88[ASN][1000 genomes]
rs16982810	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17660319	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17660341	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs17716726	0.96[ASN][1000 genomes]
rs2168638	0.96[ASN][1000 genomes]
rs2168639	0.96[ASN][1000 genomes]
rs73050804	0.96[ASN][1000 genomes]
rs73050815	0.88[ASN][1000 genomes]
rs73067342	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73067352	0.96[ASN][1000 genomes]
rs73067368	0.96[ASN][1000 genomes]
rs73067369	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv544051	chr19:51944903-52147459	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2758504	chr19:51991896-52266700	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	542 gene(s)	inside rSNPs	diseases
5	esv2758767	chr19:51991896-52604625	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	578 gene(s)	inside rSNPs	diseases
6	nsv469584	chr19:52001381-52151821	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv482654	chr19:52001381-52151821	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 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	chr19:52048800-52058000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr19:52050600-52054400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
3	chr19:52052800-52056400	Weak transcription	Spleen	Spleen
4	chr19:52053400-52054400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
5	chr19:52053400-52054800	Active TSS	K562	blood
6	chr19:52053600-52054800	Weak transcription	Primary T cells from cord blood	blood
7	chr19:52053600-52056400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr19:52054000-52054400	Flanking Active TSS	Primary B cells from peripheral blood	blood
9	chr19:52054000-52054600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:52054000-52054600	Enhancers	Placenta	Placenta
11	chr19:52054000-52057000	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr19:52054200-52054400	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
13	chr19:52054200-52054600	Enhancers	GM12878-XiMat	blood
14	chr19:52054200-52055000	Active TSS	Rectal Mucosa Donor 29	rectum

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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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