Variant report

Variant	rs1133344
Chromosome Location	chr7:80285069-80285070
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10428893	0.90[ASN][1000 genomes]
rs10429164	0.90[ASN][1000 genomes]
rs10499857	0.87[ASN][1000 genomes]
rs10499858	0.90[ASN][1000 genomes]
rs11768747	0.87[ASN][1000 genomes]
rs11768817	0.88[ASN][1000 genomes]
rs11771839	0.90[ASN][1000 genomes]
rs11772036	0.88[ASN][1000 genomes]
rs1194181	0.88[EUR][1000 genomes]
rs11971740	0.88[ASN][1000 genomes]
rs11971793	0.88[ASN][1000 genomes]
rs11972894	0.87[ASN][1000 genomes]
rs11974227	0.88[ASN][1000 genomes]
rs1334511	0.91[ASN][1000 genomes]
rs1360741	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1537593	0.98[EUR][1000 genomes]
rs17154130	0.90[ASN][1000 genomes]
rs17154181	0.90[ASN][1000 genomes]
rs3173799	0.90[ASN][1000 genomes]
rs3211817	0.91[ASN][1000 genomes]
rs3211828	0.94[ASN][1000 genomes]
rs3211830	0.94[ASN][1000 genomes]
rs3211838	0.98[ASN][1000 genomes]
rs3211851	0.96[ASN][1000 genomes]
rs3211867	1.00[ASN][1000 genomes]
rs3211883	0.98[EUR][1000 genomes]
rs3212162	0.89[ASN][1000 genomes]
rs3212163	0.91[ASN][1000 genomes]
rs35179913	0.92[ASN][1000 genomes]
rs58408258	0.91[ASN][1000 genomes]
rs60133848	0.88[ASN][1000 genomes]
rs60854150	0.90[ASN][1000 genomes]
rs6960369	0.90[ASN][1000 genomes]
rs9641866	0.88[ASN][1000 genomes]
rs9784998	0.89[ASN][1000 genomes]
rs9918530	0.90[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	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv831043	chr7:80119414-80322092	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv948605	chr7:80119690-80298887	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1020682	chr7:80120651-80297697	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv464606	chr7:80177084-80311794	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv607682	chr7:80177084-80311794	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv1026688	chr7:80231657-80307236	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
8	nsv1020745	chr7:80231657-80309495	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
9	nsv888526	chr7:80240943-80354229	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv888529	chr7:80252518-80295701	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv464607	chr7:80262830-80288854	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv607683	chr7:80262830-80288854	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv888533	chr7:80272568-80289765	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv888535	chr7:80277632-80303350	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80269400-80305000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:80272600-80293600	Weak transcription	Placenta	Placenta
3	chr7:80275800-80288400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:80276200-80285600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr7:80276200-80286400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr7:80278600-80288200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr7:80279000-80306600	Weak transcription	Fetal Intestine Small	intestine
8	chr7:80279800-80303400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr7:80281200-80287200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:80282200-80291800	Weak transcription	Fetal Muscle Leg	muscle
11	chr7:80282800-80291000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr7:80283200-80292600	Genic enhancers	Adipose Nuclei	Adipose
13	chr7:80284000-80286000	Enhancers	HepG2	liver
14	chr7:80284200-80285200	Genic enhancers	Left Ventricle	heart
15	chr7:80284200-80285800	Enhancers	Liver	Liver
16	chr7:80284200-80285800	Enhancers	Right Ventricle	heart
17	chr7:80284600-80285800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr7:80284600-80288200	Weak transcription	Fetal Heart	heart
19	chr7:80284600-80288400	Weak transcription	Fetal Lung	lung
20	chr7:80284600-80291600	Weak transcription	Spleen	Spleen
21	chr7:80284600-80309800	Weak transcription	Psoas Muscle	Psoas
22	chr7:80285000-80285200	Enhancers	Right Atrium	heart
23	chr7:80285000-80285400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:80285000-80287800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr7:80285000-80288400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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