Variant report

Variant	rs7210801
Chromosome Location	chr17:45570623-45570624
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr17:45568506-45571321	HepG2	liver:	n/a	n/a
2	PAX5	chr17:45569635-45570628	GM12878	blood:	n/a	chr17:45570021-45570030
3	CBX3	chr17:45569445-45570802	K562	blood:	n/a	n/a
4	RPC155	chr17:45570119-45570781	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr17:45570439-45571057	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr17:45568893-45570740	GM12892	blood:	n/a	n/a
7	POLR2A	chr17:45568612-45570763	GM12878	blood:	n/a	n/a
8	MYBL2	chr17:45569048-45571178	HepG2	liver:	n/a	n/a
9	ZNF384	chr17:45570568-45570871	K562	blood:	n/a	n/a
10	POLR2A	chr17:45568652-45570730	HepG2	liver:	n/a	n/a
11	POLR2A	chr17:45570469-45570920	K562	blood:	n/a	n/a
12	PAX5	chr17:45570408-45570686	GM12878	blood:	n/a	n/a
13	MYBL2	chr17:45569069-45571286	HepG2	liver:	n/a	n/a
14	E2F6	chr17:45570516-45570655	K562	blood:	n/a	n/a
15	HEY1	chr17:45569301-45570625	K562	blood:	n/a	n/a
16	HEY1	chr17:45568667-45571036	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45569553..45571642-chr17:45608535..45610078,2	MCF-7	breast:

Variant related genes	Relation type
MRPL45P2	TF binding region
ENSG00000141279	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12051716	0.81[EUR][1000 genomes]
rs12103836	0.84[EUR][1000 genomes]
rs12602134	0.84[EUR][1000 genomes]
rs4794051	0.86[EUR][1000 genomes]
rs7226079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7350906	0.80[EUR][1000 genomes]
rs7405889	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9892234	0.90[ASN][1000 genomes]
rs9903898	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv516872	chr17:45419139-45702280	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active 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	9 gene(s)	inside rSNPs	diseases
3	nsv525267	chr17:45451894-45735706	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv1806110	chr17:45477544-45673592	Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS 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	7 gene(s)	inside rSNPs	diseases
5	nsv908568	chr17:45506682-45590420	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS 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
6	nsv833468	chr17:45511563-45683164	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv469573	chr17:45511582-45698942	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv471701	chr17:45511583-45698942	Genic enhancers Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv1793478	chr17:45518444-45671051	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv1811231	chr17:45520374-45764956	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	esv1813964	chr17:45520374-45764956	Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	esv2758458	chr17:45520374-45764956	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
13	esv2758693	chr17:45520374-45764956	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
14	nsv428344	chr17:45520374-45764956	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
15	nsv908569	chr17:45537395-45603094	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	esv1808961	chr17:45542951-45664746	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
17	esv33689	chr17:45551959-45664575	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
18	nsv471513	chr17:45552080-45671439	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
19	nsv978433	chr17:45560111-45600707	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7210801	TBKBP1	cis	Artery Tibial	GTEx
rs7210801	TBKBP1	cis	Nerve Tibial	GTEx
rs7210801	MRPL45P2	cis	Skin Sun Exposed Lower leg	GTEx
rs7210801	KPNB1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45569200-45570800	Active TSS	Duodenum Mucosa	Duodenum
2	chr17:45569200-45570800	Active TSS	Fetal Intestine Large	intestine
3	chr17:45569400-45570800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr17:45569400-45571000	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr17:45569400-45571800	Active TSS	Placenta	Placenta
6	chr17:45569800-45570800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr17:45569800-45579200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr17:45570200-45570800	Flanking Active TSS	Dnd41	blood
9	chr17:45570400-45570800	Enhancers	Primary B cells from peripheral blood	blood
10	chr17:45570400-45570800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr17:45570400-45570800	Weak transcription	Adipose Nuclei	Adipose
12	chr17:45570400-45570800	Enhancers	Brain Hippocampus Middle	brain
13	chr17:45570400-45570800	Enhancers	GM12878-XiMat	blood
14	chr17:45570400-45571000	Enhancers	Primary T cells fromperipheralblood	blood
15	chr17:45570400-45571000	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr17:45570400-45571000	Enhancers	Fetal Intestine Small	intestine
17	chr17:45570400-45571000	Flanking Active TSS	K562	blood
18	chr17:45570400-45571800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr17:45570400-45579400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr17:45570600-45570800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr17:45570600-45570800	Flanking Active TSS	Hela-S3	cervix
22	chr17:45570600-45571000	Flanking Active TSS	Liver	Liver
23	chr17:45570600-45571600	Flanking Active TSS	HepG2	liver

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