Variant report

Variant	rs7502637
Chromosome Location	chr17:20773694-20773695
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:20771704-20774305	K562	blood:	n/a	n/a
2	POLR2A	chr17:20773318-20773951	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD1	chr17:20773198-20774195	H1-hESC	embryonic stem cell:	n/a	n/a
4	TAF1	chr17:20773004-20773993	H1-hESC	embryonic stem cell:	n/a	n/a
5	ZNF384	chr17:20773673-20773721	K562	blood:	n/a	n/a
6	POLR2A	chr17:20773083-20778055	K562	blood:	n/a	n/a
7	TAF7	chr17:20773500-20773847	H1-hESC	embryonic stem cell:	n/a	n/a
8	TEAD4	chr17:20773541-20773867	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCLAF1	chr17:20771699-20774204	K562	blood:	n/a	n/a
10	HEY1	chr17:20769307-20776159	K562	blood:	n/a	n/a
11	POLR2A	chr17:20773570-20773843	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr17:20773689-20773998	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr17:20773336-20773760	H1-hESC	embryonic stem cell:	n/a	n/a
14	SIN3A	chr17:20773594-20773797	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr17:20773356-20773835	H1-hESC	embryonic stem cell:	n/a	n/a
16	UBTF	chr17:20773468-20773887	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:20773460..20776251-chr4:34006664..34009123,2	K562	blood:

No data

Variant related genes	Relation type
CCDC144NL	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4264447	0.90[EUR][1000 genomes]
rs6587094	0.91[EUR][1000 genomes]
rs8071346	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv1066490	chr17:20732646-20786993	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv960439	chr17:20733458-20799926	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv1057238	chr17:20734623-20786993	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv1057410	chr17:20736492-20782474	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv1064007	chr17:20736492-20785902	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
10	nsv1065163	chr17:20736890-20778317	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
11	nsv1067482	chr17:20737431-20782474	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20769400-20778000	Active TSS	K562	blood
2	chr17:20771200-20774000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:20771200-20774200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr17:20771200-20774800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr17:20771200-20775200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr17:20771400-20774600	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr17:20771600-20775000	Active TSS	H1 Cell Line	embryonic stem cell
8	chr17:20771800-20774000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr17:20771800-20774200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr17:20771800-20774200	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr17:20771800-20774200	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr17:20771800-20774400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr17:20771800-20774400	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr17:20771800-20775000	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr17:20772000-20774600	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr17:20772200-20774000	Active TSS	H9 Cell Line	embryonic stem cell
17	chr17:20772200-20774000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr17:20772200-20774200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr17:20773000-20775200	Active TSS	HepG2	liver
20	chr17:20773600-20774000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr17:20773600-20774000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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