Variant report

Variant	rs7807612
Chromosome Location	chr7:48040200-48040201
allele	C/T
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	FOS	chr7:48039844-48040275	MCF10A-Er-Src	breast:	n/a	n/a
2	RAD21	chr7:48039788-48040335	HCT-116	colon:	n/a	n/a
3	SP1	chr7:48039683-48040399	HCT-116	colon:	n/a	n/a
4	CBX3	chr7:48039513-48040288	HCT-116	colon:	n/a	n/a
5	CEBPB	chr7:48038870-48040443	HCT-116	colon:	n/a	chr7:48039185-48039196
6	MAX	chr7:48039690-48040257	HCT-116	colon:	n/a	n/a
7	SP1	chr7:48039546-48040365	HCT-116	colon:	n/a	n/a
8	FOS	chr7:48039855-48040245	MCF10A-Er-Src	breast:	n/a	n/a
9	STAT3	chr7:48039868-48040237	MCF10A-Er-Src	breast:	n/a	n/a
10	FOSL1	chr7:48039791-48040308	HCT-116	colon:	n/a	n/a
11	RPC155	chr7:48039639-48040212	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:48016950..48019113-chr7:48039129..48042039,2	K562	blood:

Variant related genes	Relation type
SUN3	TF binding region
ENSG00000136273	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10247913	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10253220	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10253238	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10256256	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10261930	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10951937	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10951938	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10951940	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10951941	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10951942	0.92[EUR][1000 genomes]
rs11761275	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11762077	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11764799	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11766144	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11766891	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11767002	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11768277	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11772387	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11772633	0.82[EUR][1000 genomes]
rs11773348	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12535580	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12702405	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12702406	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1318327	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13230023	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1574242	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1915960	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1915962	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1915966	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1915967	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1915968	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1915971	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1915972	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2037482	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2348666	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2348667	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2348670	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2708883	0.80[EUR][1000 genomes]
rs2881991	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2881992	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4332046	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4618593	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6978838	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6979699	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7357251	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7357327	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7456745	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7779252	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7791084	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7791572	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7791823	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7800590	0.86[ASN][1000 genomes]
rs7807611	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7807654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7807750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7808462	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9690905	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv532120	chr7:47882757-48195869	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv470221	chr7:47917495-48354363	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv464442	chr7:47917495-48354820	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv606893	chr7:47917495-48354820	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv888004	chr7:48028771-48120717	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7807612	UPP1	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48031800-48043600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:48031800-48050200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:48039000-48044000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:48039600-48040400	Enhancers	A549	lung
5	chr7:48039600-48040400	Enhancers	NH-A	brain
6	chr7:48039600-48040400	Enhancers	Osteobl	bone
7	chr7:48040000-48040400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr7:48040000-48040400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:48040000-48040400	Enhancers	NHEK	skin
10	chr7:48040000-48040600	Enhancers	Hela-S3	cervix
11	chr7:48040000-48046600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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