Variant report

Variant	rs17143161
Chromosome Location	chr7:120746209-120746210
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:120744759..120747111-chr7:120748384..120750272,2	K562	blood:
2	chr7:120729541..120731923-chr7:120745410..120747271,2	K562	blood:
3	chr7:120739177..120742283-chr7:120745711..120747787,4	K562	blood:
4	chr7:120745612..120749676-chr7:120751128..120754629,5	K562	blood:
5	chr7:120745709..120748191-chr7:120751470..120754629,3	K562	blood:
6	chr7:120721836..120724207-chr7:120744772..120746398,2	K562	blood:
7	chr7:120722707..120724413-chr7:120743913..120746398,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000212628	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1005400	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.89[ASN][1000 genomes]
rs10215148	0.85[CHD][hapmap];0.81[GIH][hapmap];0.86[JPT][hapmap]
rs10215164	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10215475	0.86[CHD][hapmap];0.86[JPT][hapmap];0.80[TSI][hapmap]
rs10216123	0.86[JPT][hapmap]
rs10228519	0.86[JPT][hapmap]
rs10235934	0.81[CHB][hapmap]
rs10246521	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs10248011	0.90[CHD][hapmap];0.86[JPT][hapmap];0.82[TSI][hapmap]
rs10249736	0.85[ASN][1000 genomes]
rs10251139	0.86[CHB][hapmap];0.86[JPT][hapmap];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10259383	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs10261386	0.80[TSI][hapmap]
rs10280106	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1112208	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs1125447	0.86[CHD][hapmap];0.86[JPT][hapmap];0.80[TSI][hapmap]
rs11531545	0.86[JPT][hapmap]
rs11977465	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12534510	0.86[ASN][1000 genomes]
rs12706314	0.83[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs1357755	0.86[CHD][hapmap];0.80[TSI][hapmap]
rs1524498	0.86[CHB][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1558541	0.86[CHB][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17143147	0.87[GIH][hapmap];0.87[TSI][hapmap]
rs17536644	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs17537827	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17626220	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1917112	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1917114	0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2037631	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2037632	0.86[CHB][hapmap];0.81[CHD][hapmap];0.86[JPT][hapmap];0.82[TSI][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2177578	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs2402560	0.86[CHD][hapmap];0.86[JPT][hapmap];0.80[TSI][hapmap]
rs3779384	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55910643	0.88[EUR][1000 genomes]
rs66729951	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6968039	0.86[CHD][hapmap];0.86[JPT][hapmap]
rs6971407	0.82[JPT][hapmap]
rs7778936	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs798949	0.86[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9641657	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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
15	nsv428506	chr7:120719434-120891759	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
16	nsv523626	chr7:120738269-120763212	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	nsv528485	chr7:120746209-120763212	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17143161	PDE5A	trans	parietal	SCAN
rs17143161	LMOD2	cis	parietal	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120711400-120790600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr7:120725800-120761800	Weak transcription	Fetal Stomach	stomach
3	chr7:120727800-120756400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:120731200-120747800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr7:120733000-120747800	Weak transcription	Spleen	Spleen
6	chr7:120735400-120784000	Weak transcription	Right Ventricle	heart
7	chr7:120737400-120747400	Strong transcription	Liver	Liver
8	chr7:120738200-120749200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:120739600-120746400	Strong transcription	HSMM	muscle
10	chr7:120740400-120753000	Weak transcription	Osteobl	bone
11	chr7:120740600-120758800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:120740800-120786000	Weak transcription	Fetal Lung	lung
13	chr7:120741400-120746400	Strong transcription	NHLF	lung
14	chr7:120741400-120782200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr7:120741800-120765600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:120742000-120810000	Weak transcription	Psoas Muscle	Psoas
17	chr7:120742400-120748200	Weak transcription	Colon Smooth Muscle	Colon
18	chr7:120742800-120752000	Weak transcription	Aorta	Aorta
19	chr7:120742800-120765000	Weak transcription	NHDF-Ad	bronchial
20	chr7:120742800-120771800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr7:120743000-120748000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:120743000-120750600	Weak transcription	Ovary	ovary
23	chr7:120743000-120765400	Weak transcription	Left Ventricle	heart
24	chr7:120743000-120784200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:120743400-120778200	Strong transcription	K562	blood
26	chr7:120743600-120749000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr7:120743600-120752800	Weak transcription	HMEC	breast
28	chr7:120743800-120748800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr7:120743800-120753200	Weak transcription	HSMMtube	muscle
30	chr7:120743800-120765600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr7:120745600-120747800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:120745600-120747800	Weak transcription	Adipose Nuclei	Adipose
33	chr7:120745600-120749200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:120746200-120768000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr7:120746200-120777800	Weak transcription	Rectal Smooth Muscle	rectum

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