Variant report

Variant	rs73553424
Chromosome Location	chr13:80111249-80111250
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10492579	1.00[EUR][1000 genomes]
rs10507899	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1335373	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1335374	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1414157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17071499	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs17071532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17071549	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17071558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17071566	1.00[EUR][1000 genomes]
rs17071574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17071585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17071627	1.00[EUR][1000 genomes]
rs17071632	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs41288268	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs56711390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57032852	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57929179	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58056613	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58069884	0.82[EUR][1000 genomes]
rs58406632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59165380	0.89[EUR][1000 genomes]
rs59381369	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59755477	0.92[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs59783325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60126328	0.92[EUR][1000 genomes]
rs61318325	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61676417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6563117	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7317409	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7317511	1.00[EUR][1000 genomes]
rs7318854	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7327148	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7329633	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7335191	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7338043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73548951	0.92[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs73548955	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs73551558	0.97[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs73551595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73551596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73551597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73551601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73551602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73553403	1.00[EUR][1000 genomes]
rs73553418	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73553431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73553447	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73553448	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73553473	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73553481	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73553499	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73555409	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73555411	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73555415	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7491258	0.92[EUR][1000 genomes]
rs7981574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7984159	0.92[EUR][1000 genomes]
rs7984598	0.88[EUR][1000 genomes]
rs7985220	0.82[EUR][1000 genomes]
rs7985697	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7990190	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7990464	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7997554	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7998452	1.00[EUR][1000 genomes]
rs8000870	0.95[AFR][1000 genomes];0.92[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	nsv523979	chr13:79979679-80120263	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80066800-80122800	Weak transcription	Esophagus	oesophagus
2	chr13:80083000-80120000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:80083000-80122800	Weak transcription	Stomach Mucosa	stomach
4	chr13:80087400-80134000	Weak transcription	Aorta	Aorta
5	chr13:80087400-80134600	Weak transcription	Pancreas	Pancrea
6	chr13:80089400-80118400	Weak transcription	Small Intestine	intestine
7	chr13:80090600-80112000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr13:80093400-80112800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr13:80097000-80112400	Weak transcription	Thymus	Thymus
10	chr13:80097200-80112400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr13:80097200-80122800	Weak transcription	Fetal Lung	lung
12	chr13:80097400-80121800	Weak transcription	Lung	lung
13	chr13:80098000-80112600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr13:80098400-80114200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr13:80098400-80123200	Weak transcription	Fetal Kidney	kidney
16	chr13:80098600-80135000	Weak transcription	Placenta	Placenta
17	chr13:80099400-80112000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr13:80099400-80115600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr13:80099400-80133200	Weak transcription	Psoas Muscle	Psoas
20	chr13:80099600-80112000	Weak transcription	Adipose Nuclei	Adipose
21	chr13:80099800-80113600	Weak transcription	GM12878-XiMat	blood
22	chr13:80100400-80121600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr13:80100600-80136400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr13:80100800-80133200	Weak transcription	Hela-S3	cervix
25	chr13:80101000-80123400	Weak transcription	HMEC	breast
26	chr13:80101800-80133200	Weak transcription	Primary T cells from cord blood	blood
27	chr13:80102200-80133600	Weak transcription	Gastric	stomach
28	chr13:80102400-80111800	Weak transcription	Left Ventricle	heart
29	chr13:80102400-80114200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr13:80102400-80114400	Weak transcription	Right Ventricle	heart
31	chr13:80102400-80115400	Weak transcription	Fetal Muscle Leg	muscle
32	chr13:80104400-80112200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr13:80104800-80133600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr13:80105800-80115800	Weak transcription	Brain Anterior Caudate	brain
35	chr13:80106000-80112000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr13:80106200-80111800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr13:80106600-80113800	Strong transcription	Dnd41	blood
38	chr13:80107800-80111400	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr13:80108400-80132200	Weak transcription	A549	lung
40	chr13:80108800-80113000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr13:80109000-80111400	Weak transcription	Fetal Intestine Large	intestine
42	chr13:80109000-80113000	Weak transcription	Ovary	ovary
43	chr13:80109000-80113600	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr13:80109000-80113600	Weak transcription	Brain Hippocampus Middle	brain
45	chr13:80109000-80121600	Weak transcription	HSMMtube	muscle
46	chr13:80109000-80123200	Weak transcription	NH-A	brain
47	chr13:80109000-80129400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr13:80109000-80133200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr13:80109000-80133200	Weak transcription	HSMM	muscle
50	chr13:80109200-80111800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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