Variant report

Variant	rs6040472
Chromosome Location	chr20:11230400-11230401
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs1473700	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1473701	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1473702	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1473703	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2015108	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2076643	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2076644	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2076645	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2076646	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2076647	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2143857	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2143859	0.90[ASN][1000 genomes]
rs2179827	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2207098	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2207099	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2207100	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2223858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2327366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2327368	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2876220	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2876221	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4384859	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4435520	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4449208	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4632419	0.99[ASN][1000 genomes]
rs4643605	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4813966	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4813967	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4813968	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4813969	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4813970	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4813971	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4813972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6033062	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6033063	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6033066	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6033067	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6033068	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6033069	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6033070	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6033071	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033072	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6040442	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6040446	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6040447	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6040450	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6040451	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6040452	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6040456	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6040458	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6040459	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6040460	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6040461	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6040463	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6040464	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6040465	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6040466	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6040469	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6040470	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6040471	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6040473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6040474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6040475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6040477	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6040479	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6040480	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6040481	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6040482	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6040486	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6040487	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6040490	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6078105	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6078109	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6104726	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6108870	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6108871	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6108872	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6108876	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6108882	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs714690	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs714691	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs714692	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs761471	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs761472	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs926725	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs983251	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs983252	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs983342	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs983343	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065969	chr20:10850562-11464172	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv544181	chr20:10850562-11464172	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv585415	chr20:11134907-11383327	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11216200-11238800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:11225400-11231000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr20:11227000-11230800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr20:11227400-11235000	Weak transcription	Fetal Kidney	kidney
5	chr20:11228200-11230600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr20:11228200-11230800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr20:11228800-11230400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr20:11228800-11230800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr20:11229000-11230400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr20:11229000-11230600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr20:11229200-11230800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr20:11229200-11230800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr20:11229400-11230600	Enhancers	H9 Cell Line	embryonic stem cell
14	chr20:11229400-11230600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr20:11229600-11230400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr20:11229600-11230400	Active TSS	Brain Anterior Caudate	brain
17	chr20:11229600-11230800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr20:11229800-11230400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr20:11230000-11230400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr20:11230000-11230800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr20:11230000-11231000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr20:11230000-11231000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr20:11230200-11230400	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr20:11230200-11230400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
25	chr20:11230200-11230400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr20:11230200-11230400	Bivalent Enhancer	Fetal Brain Male	brain
27	chr20:11230200-11230400	Active TSS	Osteobl	bone
28	chr20:11230200-11230600	Enhancers	Brain Angular Gyrus	brain
29	chr20:11230200-11230600	Enhancers	Brain Substantia Nigra	brain
30	chr20:11230200-11230800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr20:11230200-11230800	Enhancers	Brain Cingulate Gyrus	brain
32	chr20:11230200-11231000	Enhancers	Brain Germinal Matrix	brain
33	chr20:11230200-11231600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr20:11230200-11232000	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr20:11230400-11230600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr20:11230400-11230600	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr20:11230400-11230800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr20:11230400-11230800	Enhancers	Brain Hippocampus Middle	brain
39	chr20:11230400-11231000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell

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