Variant report

Variant	rs73555604
Chromosome Location	chr19:39739170-39739171
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr19:39739115-39739641	H1-hESC	embryonic stem cell:	n/a	chr19:39739369-39739379
2	SUZ12	chr19:39738011-39739511	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr19:39739130-39739646	H1-hESC	embryonic stem cell:	n/a	chr19:39739369-39739379

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:39738872..39741336-chr19:39743495..39745954,2	K562	blood:

Variant related genes	Relation type
IFNL3	TF binding region
ENSG00000213926	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs62120525	0.87[EUR][1000 genomes]
rs62120527	0.94[EUR][1000 genomes]
rs62120528	1.00[EUR][1000 genomes]
rs62120529	1.00[EUR][1000 genomes]
rs62120530	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432048	chr19:39572060-39850060	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833830	chr19:39709538-39837846	Enhancers Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	nsv911678	chr19:39710903-39763765	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv1796501	chr19:39723520-39740868	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv911679	chr19:39735106-39924129	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
6	nsv963046	chr19:39735570-39739516	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39737600-39739200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr19:39737800-39739200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
3	chr19:39737800-39739400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr19:39737800-39739600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:39738000-39739200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr19:39738000-39740200	Enhancers	Primary hematopoietic stem cells	blood
7	chr19:39738000-39740400	Enhancers	Liver	Liver
8	chr19:39738600-39739400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr19:39738600-39739600	Bivalent Enhancer	Adipose Nuclei	Adipose
10	chr19:39738600-39740400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr19:39738800-39739200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr19:39738800-39739200	Bivalent Enhancer	Fetal Stomach	stomach
13	chr19:39738800-39739400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr19:39738800-39739400	Bivalent Enhancer	Brain Hippocampus Middle	brain
15	chr19:39738800-39740800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr19:39739000-39739200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
17	chr19:39739000-39739200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr19:39739000-39739200	Bivalent/Poised TSS	Colonic Mucosa	Colon
19	chr19:39739000-39739200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
20	chr19:39739000-39739600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin

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