Variant report

Variant	rs7317409
Chromosome Location	chr13:80164872-80164873
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10492579	0.92[EUR][1000 genomes]
rs10507899	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1335373	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1335374	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1414157	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17071499	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17071532	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17071549	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17071558	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17071566	0.92[EUR][1000 genomes]
rs17071574	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17071585	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17071627	0.92[EUR][1000 genomes]
rs17071632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41288268	0.84[EUR][1000 genomes]
rs56711390	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57032852	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57929179	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58056613	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs58406632	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59165380	0.82[EUR][1000 genomes]
rs59381369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59755477	0.86[AFR][1000 genomes]
rs59783325	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60126328	1.00[EUR][1000 genomes]
rs61318325	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61676417	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6563117	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7317511	0.92[EUR][1000 genomes]
rs7318854	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7327148	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7329633	0.86[AFR][1000 genomes]
rs7335191	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7338043	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73548951	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs73548955	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs73551558	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs73551595	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73551596	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73551597	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73551601	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73551602	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73553403	0.92[EUR][1000 genomes]
rs73553418	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73553424	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73553431	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73553447	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73553448	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73553473	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73553481	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73553499	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73555409	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73555411	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73555415	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7491258	0.84[EUR][1000 genomes]
rs7981574	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7984159	0.84[EUR][1000 genomes]
rs7984598	0.81[EUR][1000 genomes]
rs7985697	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7990190	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7990464	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7997554	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7998452	0.92[EUR][1000 genomes]
rs8000870	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916983	chr13:80065879-80249702	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1041994	chr13:80123596-80247708	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80164200-80167400	Weak transcription	HSMM	muscle
2	chr13:80164400-80165000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:80164400-80165000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr13:80164400-80165000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr13:80164400-80165000	Flanking Active TSS	HMEC	breast
6	chr13:80164400-80165200	Enhancers	Fetal Muscle Trunk	muscle
7	chr13:80164400-80167400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr13:80164400-80167400	Weak transcription	HSMMtube	muscle
9	chr13:80164600-80165200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr13:80164600-80165400	Enhancers	Adipose Nuclei	Adipose
11	chr13:80164600-80167200	Weak transcription	Osteobl	bone
12	chr13:80164600-80167800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr13:80164600-80169800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr13:80164800-80165200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr13:80164800-80165800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr13:80164800-80165800	Enhancers	NHEK	skin
17	chr13:80164800-80167200	Weak transcription	Fetal Muscle Leg	muscle

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