Variant report

Variant	rs57853272
Chromosome Location	chr17:19883657-19883658
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr17:19883150-19883775	H1-hESC	embryonic stem cell:	n/a	n/a
2	SIN3A	chr17:19883093-19883803	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr17:19879996-19884397	H1-hESC	embryonic stem cell:	n/a	n/a
4	NANOG	chr17:19883257-19883731	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr17:19883388-19884083	H1-hESC	embryonic stem cell:	n/a	n/a
6	TAF7	chr17:19882938-19883949	H1-hESC	embryonic stem cell:	n/a	n/a
7	TBP	chr17:19883180-19883830	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD2	chr17:19883129-19883811	H1-hESC	embryonic stem cell:	n/a	n/a
9	GTF2F1	chr17:19883083-19883759	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr17:19883031-19883736	H1-hESC	embryonic stem cell:	n/a	n/a
11	TAF1	chr17:19882930-19884030	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr17:19883156-19883746	H1-hESC	embryonic stem cell:	n/a	n/a
13	YY1	chr17:19883133-19883727	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr17:19882786-19884035	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr17:19882662-19884036	H1-hESC	embryonic stem cell:	n/a	n/a
16	TAF1	chr17:19883118-19883820	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:19874894..19877588-chr17:19882059..19884637,2	MCF-7	breast:
2	chr17:19880813..19883681-chr17:19988880..19990706,2	MCF-7	breast:
3	chr17:19877195..19879459-chr17:19883535..19885344,2	K562	blood:

No data

Variant related genes	Relation type
AKAP10	TF binding region
ENSG00000128487	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs56178618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58524683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59395638	1.00[AMR][1000 genomes]
rs59704385	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7215558	0.86[AFR][1000 genomes]
rs7221750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980725	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980727	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980759	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73980789	0.97[AFR][1000 genomes]
rs73980794	1.00[AFR][1000 genomes]
rs73984562	0.88[AFR][1000 genomes]
rs8064839	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8066256	0.94[AFR][1000 genomes]
rs8073950	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8082216	0.94[AFR][1000 genomes];1.00[AMR][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	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv907869	chr17:19795774-19926836	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv833394	chr17:19827714-19999577	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1060337	chr17:19828636-20204872	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv543257	chr17:19828636-20204872	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv907870	chr17:19871922-20001612	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19880000-19884000	Active TSS	H1 Cell Line	embryonic stem cell
2	chr17:19880200-19884400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr17:19881200-19884200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr17:19881400-19884200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr17:19881400-19884400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr17:19881800-19884200	Enhancers	Placenta	Placenta
7	chr17:19882000-19884000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr17:19882400-19883800	Enhancers	Primary B cells from cord blood	blood
9	chr17:19882400-19884000	Enhancers	Primary B cells from peripheral blood	blood
10	chr17:19882400-19884400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr17:19882400-19884400	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr17:19882600-19883800	Enhancers	Primary hematopoietic stem cells	blood
13	chr17:19882600-19884000	Enhancers	HUVEC	blood vessel
14	chr17:19883000-19883800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr17:19883000-19883800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr17:19883200-19883800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr17:19883200-19883800	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr17:19883200-19883800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr17:19883200-19884200	Active TSS	H9 Cell Line	embryonic stem cell
20	chr17:19883200-19884400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr17:19883400-19883800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr17:19883400-19883800	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr17:19883400-19883800	Flanking Active TSS	Ovary	ovary
24	chr17:19883400-19883800	Enhancers	Spleen	Spleen
25	chr17:19883600-19883800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr17:19883600-19883800	Enhancers	Esophagus	oesophagus
27	chr17:19883600-19883800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr17:19883600-19883800	Enhancers	Left Ventricle	heart
29	chr17:19883600-19883800	Enhancers	Right Atrium	heart

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