Variant report

Variant	rs2003884
Chromosome Location	chr17:16649880-16649881
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:16649799-16650215	U87	brain:	n/a	n/a
2	POLR2A	chr17:16649777-16650333	Gliobla	brain:	n/a	n/a
3	POLR2A	chr17:16649719-16650190	GM12878	blood:	n/a	n/a
4	HEY1	chr17:16649854-16650153	HepG2	liver:	n/a	n/a
5	POLR2A	chr17:16649863-16650191	GM12891	blood:	n/a	n/a
6	POLR2A	chr17:16649806-16650117	MCF-7	breast:	n/a	n/a
7	TAF1	chr17:16649873-16650139	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr17:16649876-16650171	GM12878	blood:	n/a	n/a
9	POLR2A	chr17:16649855-16650111	HUVEC	blood vessel:	n/a	n/a
10	TCF3	chr17:16649791-16650150	GM12878	blood:	n/a	n/a
11	POLR2A	chr17:16649873-16649882	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr17:16649879-16650140	GM12878	blood:	n/a	n/a
13	POLR2A	chr17:16649726-16650253	GM12892	blood:	n/a	n/a
14	POLR2A	chr17:16649846-16650028	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr17:16649867-16650113	ProgFib	skin:	n/a	n/a
16	POLR2A	chr17:16649766-16650197	SK-N-MC	brain:	n/a	n/a
17	TAF1	chr17:16649810-16650168	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr17:16649787-16650336	GM12892	blood:	n/a	n/a
19	POLR2A	chr17:16649867-16650176	A549	lung:	n/a	n/a
20	TCF12	chr17:16649828-16650207	GM12878	blood:	n/a	n/a
21	POLR2A	chr17:16649782-16650159	GM12892	blood:	n/a	n/a
22	TAF1	chr17:16649852-16650068	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr17:16649849-16650167	GM12891	blood:	n/a	n/a
24	PAX5	chr17:16649796-16650235	GM12878	blood:	n/a	n/a
25	POLR2A	chr17:16649774-16650179	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr17:16649835-16650105	MCF-7	breast:	n/a	n/a
27	POLR2A	chr17:16649872-16650234	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr17:16649860-16650041	MCF-7	breast:	n/a	n/a
29	IRF4	chr17:16649853-16650122	GM12878	blood:	n/a	n/a
30	POLR2A	chr17:16649779-16650137	K562	blood:	n/a	n/a
31	POLR2A	chr17:16649815-16650240	GM12891	blood:	n/a	n/a

No data

Variant related genes	Relation type
UPF3AP1	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2349265	0.83[EUR][1000 genomes]
rs2656343	1.00[AFR][1000 genomes]
rs3101948	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs778669	1.00[AFR][1000 genomes]

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	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
2	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	esv2758442	chr17:16527056-16817437	Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv2758676	chr17:16527056-16817437	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv427991	chr17:16527056-16817437	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv907720	chr17:16557606-16758204	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	esv2756642	chr17:16571504-16734163	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	esv2757653	chr17:16571504-16764830	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	nsv984504	chr17:16572370-16776542	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	esv2635467	chr17:16589774-16757904	Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv833378	chr17:16596129-16750963	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
12	nsv907721	chr17:16599123-16758204	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
13	nsv482681	chr17:16609078-16767235	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
14	nsv907722	chr17:16643881-16758204	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
15	nsv907723	chr17:16643881-16777177	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
16	nsv978474	chr17:16644356-16665370	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
17	nsv960063	chr17:16649044-16662779	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16649000-16650000	Active TSS	H9 Cell Line	embryonic stem cell
2	chr17:16649000-16650000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr17:16649400-16650000	Active TSS	iPS-20b Cell Line	embryonic stem cell

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