Variant report

Variant	rs4718972
Chromosome Location	chr7:70096901-70096902
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1013878	0.89[ASN][1000 genomes]
rs10242748	0.85[ASN][1000 genomes]
rs11762238	0.85[ASN][1000 genomes]
rs11772435	0.85[ASN][1000 genomes]
rs1557971	0.85[ASN][1000 genomes]
rs17578487	0.82[ASN][1000 genomes]
rs1859574	0.89[ASN][1000 genomes]
rs4717540	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5017470	0.85[ASN][1000 genomes]
rs6948401	0.83[ASN][1000 genomes]
rs7459368	0.82[ASN][1000 genomes]
rs7808950	0.85[ASN][1000 genomes]
rs7809475	0.91[ASN][1000 genomes]
rs9638590	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][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	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv532783	chr7:69939570-70245396	Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv3341834	chr7:69968031-70288098	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv532784	chr7:69969631-70204548	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1025522	chr7:69971452-70173513	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1032378	chr7:70010392-70190353	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv538929	chr7:70010392-70190353	Bivalent/Poised TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1024498	chr7:70016323-70190353	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv538930	chr7:70016323-70190353	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1024524	chr7:70031241-70138924	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv1025164	chr7:70061655-70469358	Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv538931	chr7:70061655-70469358	Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1029757	chr7:70061656-70190100	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv538932	chr7:70061656-70190100	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv1030496	chr7:70067475-70221743	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv464546	chr7:70071920-70100347	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
17	nsv607432	chr7:70071920-70100347	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
18	nsv1017876	chr7:70073764-70434599	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4718972	GUCY1A3	trans	parietal	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70087400-70100400	Weak transcription	Liver	Liver
2	chr7:70088200-70102400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr7:70094600-70097800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:70094800-70098000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:70095000-70097600	Enhancers	Fetal Brain Male	brain
6	chr7:70095000-70097800	Enhancers	Fetal Stomach	stomach
7	chr7:70095200-70097600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr7:70095200-70097800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:70095400-70097800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:70096000-70097600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
11	chr7:70096200-70097600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:70096200-70097800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:70096200-70097800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr7:70096200-70097800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr7:70096400-70097200	Enhancers	H9 Cell Line	embryonic stem cell
16	chr7:70096400-70097200	Bivalent Enhancer	Fetal Muscle Leg	muscle
17	chr7:70096400-70097600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr7:70096400-70097800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
19	chr7:70096400-70099200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:70096400-70100400	Weak transcription	Right Ventricle	heart
21	chr7:70096600-70097000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
22	chr7:70096600-70097000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:70096600-70097000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:70096600-70097000	Enhancers	NH-A	brain
25	chr7:70096600-70097200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
26	chr7:70096600-70097400	Bivalent Enhancer	Brain Germinal Matrix	brain
27	chr7:70096600-70097400	Enhancers	Fetal Brain Female	brain
28	chr7:70096600-70097600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:70096600-70097800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr7:70096600-70097800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:70096600-70098200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:70096600-70099400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:70096600-70099400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:70096600-70099400	Weak transcription	Osteobl	bone
35	chr7:70096600-70099600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:70096800-70099000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr7:70096800-70103200	Weak transcription	Fetal Lung	lung

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