Variant report

Variant	rs559324387
Chromosome Location	chr17:20823150-20823151
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	chr17:20823136-20823396	K562	blood:	n/a	n/a
2	EGR1	chr17:20822997-20823181	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000233098	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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	nsv916440	chr17:20171468-20839266	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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	esv2751619	chr17:20462908-20914156	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv3361931	chr17:20539962-20845258	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv3330516	chr17:20572433-20862663	Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1064365	chr17:20801739-20890716	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv949097	chr17:20801739-21406355	Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
7	nsv574597	chr17:20802778-20872331	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv527161	chr17:20814766-20872331	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv457706	chr17:20814766-20872331	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv574598	chr17:20814766-20872331	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	esv17086	chr17:20823000-20825771	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	esv3314605	chr17:20823150-20825868	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20812200-20824800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr17:20812600-20823200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr17:20812600-20830800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr17:20820000-20823200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr17:20820000-20824000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr17:20820200-20823200	Weak transcription	NHDF-Ad	bronchial
7	chr17:20820200-20823400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr17:20820200-20823600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr17:20820200-20823800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr17:20820200-20824200	Weak transcription	Hela-S3	cervix
11	chr17:20820200-20824200	Weak transcription	NHLF	lung
12	chr17:20820200-20827800	Weak transcription	Right Atrium	heart
13	chr17:20820400-20823800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr17:20820400-20825600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr17:20820400-20825600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr17:20820400-20825600	Weak transcription	NHEK	skin
17	chr17:20820400-20827200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr17:20822800-20823200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr17:20822800-20824200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr17:20822800-20824400	Enhancers	Brain Cingulate Gyrus	brain
21	chr17:20823000-20823200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr17:20823000-20823200	Enhancers	Brain Substantia Nigra	brain
23	chr17:20823000-20823400	Enhancers	Colon Smooth Muscle	Colon
24	chr17:20823000-20823600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr17:20823000-20823600	Enhancers	Osteobl	bone
26	chr17:20823000-20823800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr17:20823000-20824400	Enhancers	Brain Anterior Caudate	brain
28	chr17:20823000-20824600	Enhancers	Brain Hippocampus Middle	brain

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