Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:39052988-39053354	SK-N-MC	brain:	n/a	n/a
2	YY1	chr7:39052950-39053304	H1-hESC	embryonic stem cell:	n/a	chr7:39053131-39053143
3	POLR2A	chr7:39052897-39053247	K562	blood:	n/a	n/a
4	POLR2A	chr7:39052413-39053282	H1-hESC	embryonic stem cell:	n/a	n/a
5	YY1	chr7:39052938-39053372	K562	blood:	n/a	chr7:39053131-39053143
6	YY1	chr7:39052945-39053320	K562	blood:	n/a	chr7:39053131-39053143
7	YY1	chr7:39052959-39053302	NT2-D1	testis:	n/a	chr7:39053131-39053143
8	TAF1	chr7:39052960-39053276	K562	blood:	n/a	n/a
9	TAF1	chr7:39052671-39053196	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr7:39052973-39053209	H1-hESC	embryonic stem cell:	n/a	n/a
11	HEY1	chr7:39052936-39053292	K562	blood:	n/a	n/a
12	POLR2A	chr7:39052931-39053244	K562	blood:	n/a	n/a
13	POLR2A	chr7:39052954-39053176	H1-hESC	embryonic stem cell:	n/a	n/a
14	YY1	chr7:39052808-39053358	H1-hESC	embryonic stem cell:	n/a	chr7:39053131-39053143
15	TBP	chr7:39052959-39053904	K562	blood:	n/a	n/a
16	TAF1	chr7:39052934-39053228	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr7:39052938-39053306	K562	blood:	n/a	n/a
18	YY1	chr7:39052951-39053281	K562	blood:	n/a	chr7:39053131-39053143
19	HEY1	chr7:39052921-39053333	K562	blood:	n/a	n/a
20	YY1	chr7:39053063-39053176	K562	blood:	n/a	chr7:39053131-39053143

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VPS41-1	chr7:39053013-39053168	NONHSAT120194

Variant related genes	Relation type
POU6F2-AS2	TF binding region

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1116813	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12534015	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12701690	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13234105	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13244920	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1358422	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1527949	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17171520	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17171521	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34013745	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34191717	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35218421	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35787066	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4512300	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9691458	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9719863	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830967	chr7:38913837-39069253	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1024142	chr7:38978728-39300444	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv887967	chr7:39009307-39090698	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39052200-39053200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:39052600-39053200	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr7:39052600-39053200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:39052600-39053800	Active TSS	H9 Cell Line	embryonic stem cell
5	chr7:39052600-39054200	Active TSS	H1 Cell Line	embryonic stem cell
6	chr7:39052600-39054400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr7:39052600-39054400	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr7:39052800-39053200	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr7:39052800-39053400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:39052800-39054200	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr7:39052800-39054200	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr7:39052800-39054200	Active TSS	K562	blood
13	chr7:39053000-39053600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:39053000-39054200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr7:39053000-39054200	Active TSS	iPS-20b Cell Line	embryonic stem cell

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