Variant report

Variant	rs9891975
Chromosome Location	chr17:20687724-20687725
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:20687447-20687761	GM12878	blood:	n/a	n/a
2	POLR2A	chr17:20687433-20687814	ProgFib	skin:	n/a	n/a
3	POLR2A	chr17:20687395-20687875	Gliobla	brain:	n/a	n/a
4	POLR2A	chr17:20687470-20687862	GM12878	blood:	n/a	n/a
5	POLR2A	chr17:20687690-20687773	A549	lung:	n/a	n/a
6	POU2F2	chr17:20687350-20687730	GM12878	blood:	n/a	n/a
7	HEY1	chr17:20687368-20687940	HepG2	liver:	n/a	n/a
8	POLR2A	chr17:20687360-20687919	MCF-7	breast:	n/a	n/a
9	POLR2A	chr17:20687339-20687834	GM12892	blood:	n/a	n/a
10	POLR2A	chr17:20687367-20688050	MCF-7	breast:	n/a	n/a
11	POLR2A	chr17:20687314-20687913	K562	blood:	n/a	n/a
12	POLR2A	chr17:20687367-20688055	HepG2	liver:	n/a	n/a
13	POLR2A	chr17:20687687-20687837	HepG2	liver:	n/a	n/a
14	HEY1	chr17:20687397-20687752	K562	blood:	n/a	n/a
15	POLR2A	chr17:20687349-20687897	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr17:20687284-20687962	MCF-7	breast:	n/a	n/a
17	POLR2A	chr17:20687516-20687724	HepG2	liver:	n/a	n/a
18	TAF1	chr17:20687475-20687754	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr17:20687526-20687868	HepG2	liver:	n/a	n/a
20	POLR2A	chr17:20687687-20687826	A549	lung:	n/a	n/a
21	POLR2A	chr17:20687459-20687832	HepG2	liver:	n/a	n/a
22	MYC	chr17:20687544-20687766	MCF-7	breast:	n/a	n/a
23	POLR2A	chr17:20687486-20687735	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr17:20687446-20687894	A549	lung:	n/a	n/a
25	EBF1	chr17:20687423-20687724	GM12878	blood:	n/a	n/a
26	HEY1	chr17:20687519-20687734	HepG2	liver:	n/a	n/a
27	POLR2A	chr17:20687294-20687932	HUVEC	blood vessel:	n/a	n/a
28	FOSL2	chr17:20687398-20687801	HepG2	liver:	n/a	n/a
29	POLR2A	chr17:20687515-20687730	A549	lung:	n/a	n/a
30	TAF1	chr17:20687396-20687843	HepG2	liver:	n/a	n/a
31	POLR2A	chr17:20687454-20687755	SK-N-MC	brain:	n/a	n/a
32	TAF1	chr17:20687438-20687752	HepG2	liver:	n/a	n/a
33	EBF1	chr17:20687368-20687821	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:20687698-20687748	HPAEpiC	pulmonary alveolar:	n/a
2	chr17:20687681-20687731	AG09319	gingival:	n/a
3	chr17:20687681-20687731	HUVEC	blood vessel:	n/a
4	chr17:20687681-20687731	BJ	skin:	n/a
5	chr17:20687698-20687748	HRE	kidney:	n/a
6	chr17:20687681-20687731	ProgFib	skin:	n/a
7	chr17:20687681-20687731	Hepatocyte	liver:	n/a
8	chr17:20687681-20687731	AG04450	lung:	fetal
9	chr17:20687681-20687731	HNPCEpiC	eye:	n/a
10	chr17:20687681-20687731	AG10803	skin:	n/a
11	chr17:20687698-20687748	AG04450	lung:	fetal
12	chr17:20687698-20687748	CMK	blood:	n/a
13	chr17:20687698-20687748	BJ	skin:	n/a
14	chr17:20687681-20687731	SK-N-SH	brain:	n/a
15	chr17:20687681-20687731	HAEpiC	amniotic membrane:	n/a
16	chr17:20687698-20687748	HCF	heart:	n/a
17	chr17:20687681-20687731	HMEC	breast:	n/a
18	chr17:20687681-20687731	ECC-1	luminal epithelium:	n/a
19	chr17:20687681-20687731	HL-60	blood:	n/a
20	chr17:20687681-20687731	GM12891	blood:	n/a
21	chr17:20687698-20687748	BE2_C	brain:	n/a
22	chr17:20687698-20687748	AoSMC	blood vessel:	n/a
23	chr17:20687681-20687731	RPTEC	kidney:	n/a
24	chr17:20687681-20687731	HIPEpiC	eye:	n/a
25	chr17:20687698-20687748	HEEpiC	esophagus:	n/a
26	chr17:20687698-20687748	RPTEC	kidney:	n/a
27	chr17:20687681-20687731	NB4	blood:	n/a
28	chr17:20687698-20687748	NB4	blood:	n/a
29	chr17:20687681-20687731	PANC-1	pancreas:	n/a
30	chr17:20687681-20687731	U87	brain:	n/a
31	chr17:20687681-20687731	A549	lung:	n/a
32	chr17:20687698-20687748	MCF10A-Er-Src	breast:	n/a
33	chr17:20687681-20687731	AG04449	skin:	fetal
34	chr17:20687681-20687731	HRPEpiC	eye:	n/a
35	chr17:20687698-20687748	IMR90	lung:	fetal
36	chr17:20687681-20687731	HRE	kidney:	n/a
37	chr17:20687698-20687748	NHDF-neo	bronchial:	n/a
38	chr17:20687681-20687731	HEEpiC	esophagus:	n/a
39	chr17:20687698-20687748	HAEpiC	amniotic membrane:	n/a
40	chr17:20687681-20687731	PrEC	prostate:	n/a
41	chr17:20687698-20687748	AG09309	skin:	n/a
42	chr17:20687698-20687748	Hepatocyte	liver:	n/a
43	chr17:20687698-20687748	Jurkat	blood:	n/a
44	chr17:20687698-20687748	HMEC	breast:	n/a
45	chr17:20687681-20687731	Hela-S3	cervix:	n/a
46	chr17:20687681-20687731	HCT-116	colon:	n/a
47	chr17:20687698-20687748	GM12892	blood:	n/a
48	chr17:20687698-20687748	LNCaP	prostate:	n/a
49	chr17:20687681-20687731	K562	blood:	n/a
50	chr17:20687698-20687748	NT2-D1	testis:	n/a

No data

Variant related genes	Relation type
ENSG00000264215	TF binding region
SCDP1	TF binding region
ENSG00000264215	CpG island
SCDP1	CpG island

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs28537295	0.82[AFR][1000 genomes]
rs58204547	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295949	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9907149	1.00[AMR][1000 genomes]
rs9908154	1.00[AMR][1000 genomes]

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	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
2	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
3	esv2758445	chr17:20287295-20699840	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
4	esv2758680	chr17:20287295-20699840	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv469647	chr17:20552253-20751738	Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv482489	chr17:20552253-20751738	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	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
10	nsv960076	chr17:20610812-20689633	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv907884	chr17:20613642-20715726	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv9511	chr17:20679832-20688799	Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Strong transcription	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20687200-20687800	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr17:20687200-20688000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr17:20687400-20688000	Bivalent Enhancer	Adipose Nuclei	Adipose
4	chr17:20687600-20687800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr17:20687600-20687800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr17:20687600-20687800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr17:20687600-20687800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr17:20687600-20687800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
9	chr17:20687600-20687800	Bivalent/Poised TSS	Fetal Stomach	stomach
10	chr17:20687600-20687800	Active TSS	HSMM	muscle
11	chr17:20687600-20688000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr17:20687600-20688000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr17:20687600-20688000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr17:20687600-20688000	Bivalent/Poised TSS	Fetal Brain Female	brain

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