Variant report

Variant	rs539091462
Chromosome Location	chr17:20222709-20222710
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	chr17:20222433-20222743	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr17:20222295-20222884	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000266839	TF binding region
CCDC144CP	TF binding region

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

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067100	chr17:20007480-20464520	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv543260	chr17:20007480-20464520	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats 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	37 gene(s)	inside rSNPs	diseases
3	nsv428669	chr17:20071969-20245033	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1064854	chr17:20086562-20225751	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv2761953	chr17:20086562-20225763	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv574581	chr17:20088492-20699545	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
7	nsv1065758	chr17:20141912-20464366	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv543262	chr17:20141912-20464366	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	nsv1057389	chr17:20158343-20256498	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv427993	chr17:20171398-20482061	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	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
12	nsv520772	chr17:20184501-20522444	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
13	nsv521025	chr17:20198024-20514921	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
14	esv32786	chr17:20219434-20294008	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv471495	chr17:20221409-20464225	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
16	nsv1059504	chr17:20222112-20581021	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20187800-20223800	Weak transcription	Pancreas	Pancrea
2	chr17:20210800-20223800	Weak transcription	Colonic Mucosa	Colon
3	chr17:20210800-20223800	Weak transcription	Esophagus	oesophagus
4	chr17:20211000-20223000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr17:20211000-20223800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr17:20211000-20223800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:20211000-20224000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr17:20211000-20224000	Weak transcription	HMEC	breast
9	chr17:20211200-20223800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr17:20211200-20224000	Weak transcription	Fetal Intestine Large	intestine
11	chr17:20211400-20224000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr17:20211600-20224000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr17:20213000-20223800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr17:20213000-20223800	Weak transcription	Adipose Nuclei	Adipose
15	chr17:20213000-20226600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr17:20213200-20223800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr17:20214400-20223400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr17:20217200-20224000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr17:20218400-20223800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr17:20218600-20223800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr17:20218600-20223800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr17:20218600-20223800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr17:20218600-20224000	Weak transcription	A549	lung
24	chr17:20218800-20223800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr17:20218800-20224000	Weak transcription	NHEK	skin
26	chr17:20218800-20224400	Weak transcription	Gastric	stomach
27	chr17:20219000-20223600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr17:20219000-20223800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr17:20219000-20224000	Weak transcription	Brain Germinal Matrix	brain
30	chr17:20219000-20224000	Weak transcription	Spleen	Spleen
31	chr17:20219200-20223600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr17:20219200-20223800	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr17:20219200-20223800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr17:20219200-20223800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr17:20219200-20223800	Weak transcription	Ovary	ovary
36	chr17:20219200-20224000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr17:20219200-20224600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr17:20219400-20223200	Weak transcription	Hela-S3	cervix
39	chr17:20219400-20223800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr17:20219400-20223800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr17:20219400-20223800	Weak transcription	Aorta	Aorta
42	chr17:20219400-20223800	Weak transcription	Brain Angular Gyrus	brain
43	chr17:20219400-20223800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr17:20219400-20223800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr17:20219400-20223800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr17:20219400-20224000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr17:20219400-20224000	Weak transcription	Fetal Intestine Small	intestine
48	chr17:20219400-20229200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr17:20219600-20223800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr17:20219600-20223800	Weak transcription	Brain Hippocampus Middle	brain

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