Variant report

Variant	rs2721325
Chromosome Location	chr7:120698749-120698750
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:120697561-120699595	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:120697542..120700598-chr7:120718862..120721681,3	K562	blood:
2	chr7:120695475..120699447-chr7:120700790..120703313,5	K562	blood:
3	chr7:120694397..120696985-chr7:120697475..120700692,4	K562	blood:
4	chr7:120687520..120689259-chr7:120697389..120698977,2	K562	blood:
5	chr7:120698569..120700981-chr7:120701062..120703872,2	K562	blood:
6	chr7:120691054..120694014-chr7:120698104..120700209,3	K562	blood:
7	chr7:120697778..120699427-chr7:120715523..120718079,2	K562	blood:
8	chr7:120627513..120629112-chr7:120697921..120699916,2	K562	blood:
9	chr7:120695659..120698795-chr7:120708123..120711912,4	K562	blood:

No data

Variant related genes	Relation type
CPED1	TF binding region
ENSG00000106034	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10085563	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10224864	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10233922	0.97[ASN][1000 genomes]
rs12706307	1.00[ASN][1000 genomes]
rs12706308	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706309	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12706310	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1986767	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2110276	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2160010	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2160011	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2160012	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2538485	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2538487	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2721326	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2721336	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2721337	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2721340	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2721345	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2908570	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4727917	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730988	1.00[ASN][1000 genomes]
rs4730991	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466764	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6965415	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6970871	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7784837	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7794369	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7808593	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831114	chr7:120595624-120804510	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv608327	chr7:120633006-120873078	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2753621	chr7:120635049-120800049	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1023611	chr7:120638930-120881658	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer 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	25 gene(s)	inside rSNPs	diseases
6	nsv1030792	chr7:120662815-120917533	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers 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
7	nsv1031282	chr7:120667937-120887301	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS 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	nsv539099	chr7:120667937-120887301	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Strong transcription 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	nsv1019025	chr7:120667937-120918696	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv539100	chr7:120667937-120918696	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv534342	chr7:120667938-120887300	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv889118	chr7:120683751-120800837	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv889119	chr7:120688463-120800837	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv889120	chr7:120691417-120800837	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2721325	TSPAN12	cis	Artery Tibial	GTEx

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120682400-120719600	Weak transcription	Fetal Lung	lung
2	chr7:120682800-120700800	Weak transcription	Fetal Kidney	kidney
3	chr7:120687800-120706600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:120689600-120709400	Weak transcription	HSMMtube	muscle
5	chr7:120690200-120709000	Weak transcription	Right Ventricle	heart
6	chr7:120690200-120709400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:120690400-120704200	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:120690400-120704400	Weak transcription	NHDF-Ad	bronchial
9	chr7:120690400-120709000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr7:120690600-120709200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:120691200-120702000	Weak transcription	Liver	Liver
12	chr7:120691200-120703400	Weak transcription	Aorta	Aorta
13	chr7:120691200-120709000	Weak transcription	Adipose Nuclei	Adipose
14	chr7:120692800-120719000	Weak transcription	Left Ventricle	heart
15	chr7:120693000-120702000	Weak transcription	Ovary	ovary
16	chr7:120693000-120704400	Weak transcription	Fetal Stomach	stomach
17	chr7:120693400-120704200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr7:120695000-120699000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr7:120696600-120709400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:120696600-120709400	Weak transcription	NHLF	lung
21	chr7:120696800-120709200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr7:120698000-120699600	ZNF genes & repeats	K562	blood
23	chr7:120698200-120699600	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr7:120698600-120701000	Weak transcription	HSMM	muscle
25	chr7:120698600-120702000	Weak transcription	Spleen	Spleen

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