Variant report

Variant	rs57579114
Chromosome Location	chr11:73546393-73546394
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11821823	1.00[EUR][1000 genomes]
rs11822264	1.00[EUR][1000 genomes]
rs11822655	1.00[EUR][1000 genomes]
rs11822794	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11823400	1.00[EUR][1000 genomes]
rs11824937	1.00[EUR][1000 genomes]
rs11825819	1.00[EUR][1000 genomes]
rs11826017	1.00[EUR][1000 genomes]
rs11827951	1.00[EUR][1000 genomes]
rs11828393	1.00[EUR][1000 genomes]
rs11829005	1.00[EUR][1000 genomes]
rs11829012	1.00[EUR][1000 genomes]
rs12295455	1.00[EUR][1000 genomes]
rs17132260	1.00[EUR][1000 genomes]
rs17132408	1.00[EUR][1000 genomes]
rs17132421	1.00[EUR][1000 genomes]
rs17132422	1.00[EUR][1000 genomes]
rs17132438	1.00[EUR][1000 genomes]
rs17132488	1.00[EUR][1000 genomes]
rs17132555	1.00[EUR][1000 genomes]
rs2462620	1.00[EUR][1000 genomes]
rs2512635	1.00[EUR][1000 genomes]
rs45476292	1.00[EUR][1000 genomes]
rs45570334	1.00[EUR][1000 genomes]
rs55840703	1.00[EUR][1000 genomes]
rs55893487	1.00[EUR][1000 genomes]
rs55939206	1.00[EUR][1000 genomes]
rs56117405	1.00[EUR][1000 genomes]
rs56237750	1.00[EUR][1000 genomes]
rs56340309	1.00[EUR][1000 genomes]
rs56378817	1.00[EUR][1000 genomes]
rs56723437	1.00[EUR][1000 genomes]
rs56767203	1.00[EUR][1000 genomes]
rs58792356	1.00[EUR][1000 genomes]
rs59610227	1.00[EUR][1000 genomes]
rs59621450	1.00[EUR][1000 genomes]
rs60093210	1.00[EUR][1000 genomes]
rs60520592	1.00[EUR][1000 genomes]
rs60924318	1.00[EUR][1000 genomes]
rs61085412	1.00[EUR][1000 genomes]
rs61581672	1.00[EUR][1000 genomes]
rs61616797	1.00[EUR][1000 genomes]
rs61701946	1.00[EUR][1000 genomes]
rs645579	1.00[EUR][1000 genomes]
rs675838	1.00[EUR][1000 genomes]
rs676346	1.00[EUR][1000 genomes]
rs7110607	1.00[EUR][1000 genomes]
rs73543094	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS 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	55 gene(s)	inside rSNPs	diseases
2	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73499600-73549600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:73499600-73583800	Weak transcription	Aorta	Aorta
3	chr11:73500200-73574200	Weak transcription	Right Ventricle	heart
4	chr11:73500400-73571400	Weak transcription	Fetal Brain Male	brain
5	chr11:73500400-73583800	Weak transcription	Colonic Mucosa	Colon
6	chr11:73500600-73549200	Weak transcription	Osteobl	bone
7	chr11:73500600-73553800	Weak transcription	Fetal Lung	lung
8	chr11:73500800-73558800	Weak transcription	NHEK	skin
9	chr11:73508400-73570600	Weak transcription	Psoas Muscle	Psoas
10	chr11:73508800-73565000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:73508800-73573800	Weak transcription	Spleen	Spleen
12	chr11:73508800-73575400	Weak transcription	Gastric	stomach
13	chr11:73509000-73549400	Weak transcription	Brain Substantia Nigra	brain
14	chr11:73509000-73549600	Weak transcription	Brain Angular Gyrus	brain
15	chr11:73509000-73553200	Weak transcription	Lung	lung
16	chr11:73516000-73553200	Weak transcription	HepG2	liver
17	chr11:73517000-73562800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr11:73517000-73565200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:73517600-73549400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr11:73518400-73584000	Weak transcription	Pancreas	Pancrea
21	chr11:73522400-73549400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:73522400-73549400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr11:73525600-73549000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:73529800-73549200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr11:73530000-73549600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:73530400-73549400	Weak transcription	HSMM	muscle
27	chr11:73530600-73549200	Weak transcription	NH-A	brain
28	chr11:73530600-73549400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr11:73530600-73549600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr11:73530800-73549200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:73531000-73549200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:73531000-73549600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr11:73531800-73555600	Weak transcription	Fetal Kidney	kidney
34	chr11:73532000-73549400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:73532800-73548400	Weak transcription	Fetal Heart	heart
36	chr11:73533000-73580400	Weak transcription	Stomach Mucosa	stomach
37	chr11:73534400-73549200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr11:73534600-73549400	Weak transcription	A549	lung
39	chr11:73535200-73549600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:73535600-73549600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:73536200-73547600	Strong transcription	Fetal Stomach	stomach
42	chr11:73537200-73559800	Weak transcription	Small Intestine	intestine
43	chr11:73537400-73582600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr11:73538600-73549600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:73539000-73549200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr11:73539000-73577200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr11:73539200-73549400	Weak transcription	Brain Hippocampus Middle	brain
48	chr11:73539200-73574200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:73539200-73583800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr11:73539800-73549600	Weak transcription	Ovary	ovary

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