Variant report

Variant	rs73349821
Chromosome Location	chr7:7599842-7599843
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10224056	1.00[EUR][1000 genomes]
rs10244757	1.00[EUR][1000 genomes]
rs10246969	1.00[EUR][1000 genomes]
rs10254036	1.00[EUR][1000 genomes]
rs10257279	1.00[EUR][1000 genomes]
rs10273001	1.00[EUR][1000 genomes]
rs13438746	1.00[EUR][1000 genomes]
rs17168622	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2348340	1.00[EUR][1000 genomes]
rs28422034	1.00[EUR][1000 genomes]
rs28488380	1.00[EUR][1000 genomes]
rs28564742	1.00[EUR][1000 genomes]
rs28602361	1.00[EUR][1000 genomes]
rs28706886	1.00[EUR][1000 genomes]
rs56681740	0.83[AMR][1000 genomes]
rs56845168	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57124042	0.83[AMR][1000 genomes]
rs57173357	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs57830645	1.00[EUR][1000 genomes]
rs58017839	0.87[AFR][1000 genomes]
rs58522484	0.92[AFR][1000 genomes]
rs59918454	0.83[AMR][1000 genomes]
rs60663837	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61285017	1.00[EUR][1000 genomes]
rs73334908	0.83[AMR][1000 genomes]
rs73334923	0.83[AMR][1000 genomes]
rs73340652	0.83[AFR][1000 genomes]
rs73349819	1.00[EUR][1000 genomes]
rs73349832	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73349849	0.88[AFR][1000 genomes]
rs73349851	0.92[AFR][1000 genomes]
rs73353651	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9691893	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1019498	chr7:7053923-7668373	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv538721	chr7:7053923-7668373	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv887470	chr7:7310023-7655094	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv887472	chr7:7405069-7680697	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv887473	chr7:7497676-7604913	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1027872	chr7:7516124-7600842	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv1024107	chr7:7516124-7601638	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv887474	chr7:7519603-7679644	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
12	nsv887475	chr7:7519603-7679644	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
13	nsv887476	chr7:7519603-7680697	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
14	nsv887477	chr7:7531819-7810122	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
15	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
16	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7589400-7605800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr7:7590000-7606000	Weak transcription	Brain Substantia Nigra	brain
3	chr7:7590000-7606200	Weak transcription	Ovary	ovary
4	chr7:7590200-7605800	Weak transcription	Brain Anterior Caudate	brain
5	chr7:7590200-7605800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr7:7593800-7606000	Weak transcription	Right Atrium	heart
7	chr7:7595200-7603000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr7:7595200-7603600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr7:7595800-7605600	Weak transcription	Fetal Kidney	kidney
10	chr7:7596400-7603200	Weak transcription	Aorta	Aorta
11	chr7:7596800-7602800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:7597000-7603800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:7597000-7605400	Weak transcription	Lung	lung
14	chr7:7597200-7604200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:7597200-7606600	Weak transcription	Gastric	stomach
16	chr7:7597400-7603600	Weak transcription	Pancreas	Pancrea
17	chr7:7597800-7606000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr7:7599200-7605800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr7:7599600-7600000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr7:7599600-7603000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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