Variant report

Variant	rs72835927
Chromosome Location	chr17:16586616-16586617
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	POLR2A	chr17:16586563-16587095	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
RNASEH1P2	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11654767	0.81[AMR][1000 genomes]
rs11656972	0.81[AMR][1000 genomes]
rs11658427	0.81[AMR][1000 genomes]
rs11658964	0.81[AMR][1000 genomes]
rs16959888	0.81[AMR][1000 genomes]
rs3813766	0.81[AMR][1000 genomes]
rs66553135	0.81[AMR][1000 genomes]
rs72835914	0.81[AMR][1000 genomes]
rs72835919	0.81[AMR][1000 genomes]
rs72835920	0.81[AMR][1000 genomes]
rs72835924	0.90[EUR][1000 genomes]
rs72835926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8073938	0.87[EUR][1000 genomes]
rs9890361	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
2	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	esv2758442	chr17:16527056-16817437	Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv2758676	chr17:16527056-16817437	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv427991	chr17:16527056-16817437	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv907720	chr17:16557606-16758204	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv978372	chr17:16559570-16587380	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv2756642	chr17:16571504-16734163	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	esv2757653	chr17:16571504-16764830	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv984504	chr17:16572370-16776542	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
11	esv3315162	chr17:16573497-16587377	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	esv3315164	chr17:16573497-16587377	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16581800-16589600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr17:16581800-16589800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr17:16584000-16586800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr17:16586400-16587000	Weak transcription	Right Atrium	heart
5	chr17:16586400-16587000	Bivalent Enhancer	HepG2	liver
6	chr17:16586600-16586800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr17:16586600-16586800	Bivalent Enhancer	Fetal Brain Male	brain
8	chr17:16586600-16586800	Active TSS	Right Ventricle	heart
9	chr17:16586600-16586800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
10	chr17:16586600-16587000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr17:16586600-16587000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr17:16586600-16587000	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
13	chr17:16586600-16587000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr17:16586600-16587000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr17:16586600-16587000	Active TSS	Colon Smooth Muscle	Colon
16	chr17:16586600-16587000	Active TSS	Psoas Muscle	Psoas
17	chr17:16586600-16587000	Active TSS	HSMM	muscle
18	chr17:16586600-16587200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr17:16586600-16587200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr17:16586600-16587200	Active TSS	Brain Hippocampus Middle	brain
21	chr17:16586600-16587200	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr17:16586600-16587200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr17:16586600-16587400	Active TSS	Brain Substantia Nigra	brain
24	chr17:16586600-16587400	Bivalent/Poised TSS	Fetal Brain Female	brain

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