Variant report

Variant	rs58920422
Chromosome Location	chr17:19772037-19772038
allele	A/G
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	SETDB1	chr17:19771252-19772230	U2OS	brain:	n/a	chr17:19772087-19772111
2	HA-E2F1	chr17:19770207-19772105	MCF-7	breast:	n/a	chr17:19771947-19771954 chr17:19770963-19770973 chr17:19771947-19771954 chr17:19771947-19771954 chr17:19770733-19770742
3	CTCF	chr17:19769654-19772275	A549	lung:	n/a	chr17:19771337-19771350 chr17:19771299-19771312 chr17:19770938-19770951 chr17:19771520-19771533 chr17:19771481-19771494
4	SIN3A	chr17:19770151-19772087	H1-hESC	embryonic stem cell:	n/a	chr17:19771287-19771296 chr17:19770959-19770970 chr17:19771169-19771180

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:19769588..19772074-chr17:19879592..19882526,4	MCF-7	breast:
2	chr17:19769754..19773058-chr17:19878983..19882883,4	MCF-7	breast:

Variant related genes	Relation type
ULK2	TF binding region
ENSG00000108599	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs281325	0.88[AFR][1000 genomes]
rs281327	0.88[AFR][1000 genomes]
rs281338	0.88[AFR][1000 genomes]
rs281342	0.88[AFR][1000 genomes]
rs3101811	0.88[AFR][1000 genomes]
rs3101812	0.88[AFR][1000 genomes]
rs61381800	1.00[AFR][1000 genomes]
rs73301996	1.00[AFR][1000 genomes]
rs8066104	0.96[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	nsv1063892	chr17:19564634-19808485	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv482398	chr17:19673458-19808039	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1057469	chr17:19696714-19787062	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3371214	chr17:19768660-19773258	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	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
7	esv3402031	chr17:19769585-19772133	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 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	chr17:19769800-19772200	Active TSS	Fetal Kidney	kidney
2	chr17:19769800-19772200	Active TSS	Fetal Lung	lung
3	chr17:19770400-19772200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr17:19770400-19772200	Active TSS	Stomach Smooth Muscle	stomach
5	chr17:19770400-19772200	Active TSS	Hela-S3	cervix
6	chr17:19770600-19772200	Active TSS	Liver	Liver
7	chr17:19771200-19778800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr17:19771400-19772200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:19771400-19772200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr17:19771600-19772200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr17:19771600-19772200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr17:19771600-19772200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr17:19771600-19772200	Flanking Active TSS	Brain Germinal Matrix	brain
14	chr17:19771600-19772200	Bivalent Enhancer	Fetal Thymus	thymus
15	chr17:19771600-19772200	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr17:19771600-19774000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr17:19771600-19775000	Enhancers	Primary T cells fromperipheralblood	blood
18	chr17:19771600-19779000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr17:19771600-19787000	Weak transcription	Gastric	stomach
20	chr17:19771800-19772200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr17:19771800-19772200	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
22	chr17:19771800-19772200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
23	chr17:19771800-19772200	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr17:19771800-19772200	Enhancers	Esophagus	oesophagus
25	chr17:19771800-19772200	Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr17:19771800-19772200	Bivalent Enhancer	Thymus	Thymus
27	chr17:19771800-19773200	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr17:19771800-19775200	Enhancers	Primary T cells from cord blood	blood
29	chr17:19771800-19775200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr17:19771800-19776200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr17:19771800-19777800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr17:19771800-19780000	Weak transcription	Pancreas	Pancrea
33	chr17:19772000-19772200	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr17:19772000-19772200	Enhancers	Fetal Brain Female	brain
35	chr17:19772000-19772200	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr17:19772000-19776000	Weak transcription	Primary monocytes fromperipheralblood	blood

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