Variant report

Variant	rs59774597
Chromosome Location	chr17:19883023-19883024
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:19879996-19884397	H1-hESC	embryonic stem cell:	n/a	n/a
2	TAF7	chr17:19882938-19883949	H1-hESC	embryonic stem cell:	n/a	n/a
3	TAF1	chr17:19882930-19884030	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr17:19882792-19883033	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr17:19882786-19884035	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr17:19882662-19884036	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD1	chr17:19882695-19883634	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	chr17:19878871..19883594-chr17:20057277..20060362,4	K562	blood:
3	chr17:19880813..19883681-chr17:19988880..19990706,2	MCF-7	breast:

No data

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

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12325682	1.00[AFR][1000 genomes]
rs12325689	0.91[AFR][1000 genomes]
rs60818106	0.92[AFR][1000 genomes]
rs61093861	0.90[AFR][1000 genomes]
rs61612850	0.85[AFR][1000 genomes]
rs61648246	0.81[AFR][1000 genomes]
rs61655182	0.90[AFR][1000 genomes]
rs73296034	0.95[AFR][1000 genomes]
rs73296042	1.00[AFR][1000 genomes]
rs73296051	0.98[AFR][1000 genomes]
rs73296074	1.00[AFR][1000 genomes]
rs73296078	0.95[AFR][1000 genomes]
rs73303985	0.90[AFR][1000 genomes]
rs9652900	0.95[AFR][1000 genomes]
rs9652901	0.95[AFR][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:36 , 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	chr17:19881800-19883200	Weak transcription	Ovary	ovary
7	chr17:19881800-19883400	Weak transcription	Gastric	stomach
8	chr17:19881800-19884200	Enhancers	Placenta	Placenta
9	chr17:19882000-19883200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr17:19882000-19883200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr17:19882000-19883400	Enhancers	Fetal Muscle Leg	muscle
12	chr17:19882000-19884000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr17:19882200-19883200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr17:19882200-19883200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr17:19882400-19883200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr17:19882400-19883200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr17:19882400-19883200	Enhancers	Adipose Nuclei	Adipose
18	chr17:19882400-19883200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr17:19882400-19883200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr17:19882400-19883400	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr17:19882400-19883400	Enhancers	Brain Anterior Caudate	brain
22	chr17:19882400-19883400	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr17:19882400-19883400	Weak transcription	Spleen	Spleen
24	chr17:19882400-19883600	Weak transcription	Esophagus	oesophagus
25	chr17:19882400-19883600	Weak transcription	Left Ventricle	heart
26	chr17:19882400-19883600	Weak transcription	Right Atrium	heart
27	chr17:19882400-19883800	Enhancers	Primary B cells from cord blood	blood
28	chr17:19882400-19884000	Enhancers	Primary B cells from peripheral blood	blood
29	chr17:19882400-19884400	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr17:19882400-19884400	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr17:19882600-19883200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr17:19882600-19883800	Enhancers	Primary hematopoietic stem cells	blood
33	chr17:19882600-19884000	Enhancers	HUVEC	blood vessel
34	chr17:19883000-19883600	Active TSS	Duodenum Mucosa	Duodenum
35	chr17:19883000-19883800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr17:19883000-19883800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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