Variant report

Variant	rs60520592
Chromosome Location	chr11:73626575-73626576
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11821823	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11822264	1.00[EUR][1000 genomes]
rs11822794	1.00[EUR][1000 genomes]
rs11823400	1.00[EUR][1000 genomes]
rs11824937	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11825819	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132408	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132421	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132422	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132438	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132555	1.00[EUR][1000 genomes]
rs45476292	1.00[EUR][1000 genomes]
rs45570334	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55840703	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55893487	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55939206	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56117405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56168571	0.87[AMR][1000 genomes]
rs56340309	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56723437	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56767203	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57579114	1.00[EUR][1000 genomes]
rs58792356	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59621450	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60093210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60924318	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61085412	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61581672	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61616797	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61701946	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7110607	1.00[EUR][1000 genomes]
rs73543094	0.87[AMR][1000 genomes];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	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
4	nsv1038105	chr11:73552023-73673836	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73588800-73630000	Weak transcription	Colonic Mucosa	Colon
2	chr11:73588800-73630200	Weak transcription	HUVEC	blood vessel
3	chr11:73589000-73630200	Weak transcription	Fetal Brain Male	brain
4	chr11:73589400-73629200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:73596000-73640800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr11:73601000-73640400	Weak transcription	Stomach Mucosa	stomach
7	chr11:73601600-73630000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:73602400-73644800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:73606600-73630000	Weak transcription	A549	lung
10	chr11:73606800-73638200	Weak transcription	NHLF	lung
11	chr11:73607200-73628400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:73611000-73628200	Weak transcription	Gastric	stomach
13	chr11:73611200-73628600	Weak transcription	Esophagus	oesophagus
14	chr11:73611600-73627800	Weak transcription	NHDF-Ad	bronchial
15	chr11:73611600-73628600	Weak transcription	Aorta	Aorta
16	chr11:73611600-73630200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:73611800-73629000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr11:73613000-73640600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:73614400-73630000	Weak transcription	Hela-S3	cervix
20	chr11:73615400-73640800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:73615800-73633400	Strong transcription	Primary T cells from cord blood	blood
22	chr11:73615800-73633600	Strong transcription	Fetal Muscle Leg	muscle
23	chr11:73615800-73641400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:73616000-73633400	Strong transcription	Fetal Muscle Trunk	muscle
25	chr11:73617600-73646000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:73618000-73628200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:73618000-73646400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr11:73618200-73627000	Strong transcription	Fetal Stomach	stomach
29	chr11:73618400-73641600	Strong transcription	Placenta	Placenta
30	chr11:73618800-73629600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr11:73618800-73629800	Weak transcription	Fetal Heart	heart
32	chr11:73618800-73630000	Weak transcription	Pancreas	Pancrea
33	chr11:73618800-73635200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:73618800-73638800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:73619200-73627000	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr11:73619200-73636800	Strong transcription	Fetal Thymus	thymus
37	chr11:73619600-73633200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:73619600-73639800	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr11:73620000-73627000	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr11:73620200-73626800	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr11:73620200-73627000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr11:73620200-73627000	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr11:73620200-73627200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:73620200-73628600	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr11:73620200-73631000	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr11:73620200-73631000	Strong transcription	Ovary	ovary
47	chr11:73620200-73631200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr11:73620200-73631200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr11:73620200-73632000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:73620200-73633000	Strong transcription	Primary B cells from peripheral blood	blood

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