Variant report

Variant	rs190267112
Chromosome Location	chr17:20823592-20823593
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	POLR2A	chr17:20823178-20823873	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000233098	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 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
13	esv3314606	chr17:20823197-20825844	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	esv3314609	chr17:20823215-20825825	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	esv3314608	chr17:20823220-20825797	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	esv3314604	chr17:20823273-20825766	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	esv3314610	chr17:20823287-20825763	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 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	chr17:20812600-20830800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr17:20820000-20824000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr17:20820200-20823600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr17:20820200-20823800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr17:20820200-20824200	Weak transcription	Hela-S3	cervix
7	chr17:20820200-20824200	Weak transcription	NHLF	lung
8	chr17:20820200-20827800	Weak transcription	Right Atrium	heart
9	chr17:20820400-20823800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr17:20820400-20825600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr17:20820400-20825600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr17:20820400-20825600	Weak transcription	NHEK	skin
13	chr17:20820400-20827200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr17:20822800-20824200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr17:20822800-20824400	Enhancers	Brain Cingulate Gyrus	brain
16	chr17:20823000-20823600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr17:20823000-20823600	Enhancers	Osteobl	bone
18	chr17:20823000-20823800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr17:20823000-20824400	Enhancers	Brain Anterior Caudate	brain
20	chr17:20823000-20824600	Enhancers	Brain Hippocampus Middle	brain
21	chr17:20823200-20823800	Enhancers	NH-A	brain
22	chr17:20823200-20824000	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr17:20823200-20824000	Enhancers	Ovary	ovary
24	chr17:20823200-20824000	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr17:20823200-20824000	Enhancers	HSMMtube	muscle
26	chr17:20823200-20824200	Enhancers	Fetal Stomach	stomach
27	chr17:20823200-20824600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr17:20823200-20825600	Enhancers	NHDF-Ad	bronchial
29	chr17:20823200-20826000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr17:20823200-20826600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr17:20823400-20823800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr17:20823400-20826400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr17:20823400-20827600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr17:20823400-20831600	Weak transcription	Colon Smooth Muscle	Colon
35	chr17:20823400-20833600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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