Variant report

Variant	rs7018753
Chromosome Location	chr9:99962210-99962211
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:73)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:73 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:99961971-99962539	HepG2	liver:	n/a	n/a
2	HEY1	chr9:99962093-99962454	HepG2	liver:	n/a	n/a
3	POLR2A	chr9:99962137-99962373	SK-N-MC	brain:	n/a	n/a
4	SPI1	chr9:99962072-99962343	GM12891	blood:	n/a	n/a
5	POLR2A	chr9:99962122-99962475	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr9:99962091-99962432	A549	lung:	n/a	n/a
7	POLR2A	chr9:99962040-99962516	Gliobla	brain:	n/a	n/a
8	POLR2A	chr9:99962081-99962458	HepG2	liver:	n/a	n/a
9	POLR2A	chr9:99962070-99962461	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr9:99962119-99962410	GM12891	blood:	n/a	n/a
11	POLR2A	chr9:99962152-99962398	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr9:99961968-99962592	Hela-S3	cervix:	n/a	n/a
13	JUND	chr9:99962133-99962254	HepG2	liver:	n/a	n/a
14	HEY1	chr9:99962062-99962456	K562	blood:	n/a	n/a
15	SIN3AK20	chr9:99962053-99962390	HepG2	liver:	n/a	n/a
16	GABPA	chr9:99962086-99962348	HepG2	liver:	n/a	n/a
17	POLR2A	chr9:99962088-99962543	ProgFib	skin:	n/a	n/a
18	POLR2A	chr9:99962070-99962548	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr9:99962042-99962519	SK-N-MC	brain:	n/a	n/a
20	POLR2A	chr9:99962082-99962442	Hela-S3	cervix:	n/a	n/a
21	GABPA	chr9:99962086-99962312	HepG2	liver:	n/a	n/a
22	HEY1	chr9:99961967-99962475	HepG2	liver:	n/a	n/a
23	POLR2A	chr9:99962085-99962477	GM12891	blood:	n/a	n/a
24	POLR2A	chr9:99962036-99962493	GM12878	blood:	n/a	n/a
25	POLR2A	chr9:99962049-99962447	PANC-1	pancreas:	n/a	n/a
26	TAF1	chr9:99962058-99962457	Hela-S3	cervix:	n/a	n/a
27	SPI1	chr9:99962078-99962330	GM12878	blood:	n/a	n/a
28	POLR2A	chr9:99962053-99962473	GM12892	blood:	n/a	n/a
29	POLR2A	chr9:99962086-99962432	HepG2	liver:	n/a	n/a
30	GABPA	chr9:99962077-99962287	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr9:99962072-99962485	GM12891	blood:	n/a	n/a
32	POLR2A	chr9:99962120-99962441	HepG2	liver:	n/a	n/a
33	POLR2A	chr9:99962061-99962451	A549	lung:	n/a	n/a
34	TAF1	chr9:99962067-99962451	H1-hESC	embryonic stem cell:	n/a	n/a
35	USF1	chr9:99962081-99962571	A549	lung:	n/a	chr9:99962133-99962149
36	POLR2A	chr9:99962033-99962497	GM12892	blood:	n/a	n/a
37	POLR2A	chr9:99959070-99962561	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr9:99962098-99962417	A549	lung:	n/a	n/a
39	USF1	chr9:99962086-99962437	HepG2	liver:	n/a	chr9:99962133-99962149
40	TAF1	chr9:99962074-99962344	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr9:99962036-99962484	PFSK-1	brain:	n/a	n/a
42	POLR2A	chr9:99962053-99962495	A549	lung:	n/a	n/a
43	POLR2A	chr9:99962075-99962424	GM12878	blood:	n/a	n/a
44	JUND	chr9:99962188-99962391	HepG2	liver:	n/a	n/a
45	POLR2A	chr9:99962034-99962611	K562	blood:	n/a	n/a
46	SPI1	chr9:99962028-99962284	K562	blood:	n/a	n/a
47	SPI1	chr9:99962088-99962274	K562	blood:	n/a	n/a
48	POLR2A	chr9:99962097-99962391	A549	lung:	n/a	n/a
49	GABPA	chr9:99962057-99962412	Hela-S3	cervix:	n/a	n/a
50	HEY1	chr9:99962048-99962469	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
ZNF322P1	TF binding region
ENSG00000242375	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10521028	0.97[EUR][1000 genomes]
rs10980890	0.92[EUR][1000 genomes]
rs10980955	0.97[EUR][1000 genomes]
rs10980992	0.92[EUR][1000 genomes]
rs10981005	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10981158	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10981161	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12377244	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12378555	0.97[EUR][1000 genomes]
rs12550862	0.94[EUR][1000 genomes]
rs13287095	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16905669	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1857085	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1986462	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34592472	0.97[EUR][1000 genomes]
rs34868501	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35241252	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35285539	0.98[EUR][1000 genomes]
rs4014782	0.91[EUR][1000 genomes]
rs4128763	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4463540	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4743061	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4743062	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56860287	0.97[EUR][1000 genomes]
rs58003970	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7021506	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7848439	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7851025	0.97[EUR][1000 genomes]
rs7860303	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7865758	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931946	chr9:99895658-100005099	Bivalent/Poised TSS Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv893607	chr9:99906545-99996548	Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv893608	chr9:99906545-100005128	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer 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	17 gene(s)	inside rSNPs	diseases
4	nsv972433	chr9:99962059-99983443	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7018753	VN1R51P	cis	Thyroid	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:99942800-99962600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:99949200-99962400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr9:99957400-99962600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr9:99961400-99968800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
5	chr9:99961400-99969200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr9:99961800-99968800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr9:99961800-99969000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
8	chr9:99961800-99969000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr9:99961800-99969000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr9:99962000-99962400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr9:99962000-99967000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell

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