Variant report

Variant	rs6040686
Chromosome Location	chr20:11426674-11426675
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2207114	0.90[EUR][1000 genomes]
rs2207119	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2207130	0.87[EUR][1000 genomes]
rs2207908	0.86[EUR][1000 genomes]
rs2224183	0.86[EUR][1000 genomes]
rs2423550	0.86[EUR][1000 genomes]
rs2423551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2423553	0.86[EUR][1000 genomes]
rs2423555	0.86[EUR][1000 genomes]
rs2423558	0.86[EUR][1000 genomes]
rs6033128	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6033152	0.89[EUR][1000 genomes]
rs6040604	0.85[AMR][1000 genomes]
rs6040711	0.89[EUR][1000 genomes]
rs6040712	0.89[EUR][1000 genomes]
rs6078181	0.90[EUR][1000 genomes]
rs969293	0.89[EUR][1000 genomes]
rs973291	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv432099	chr20:11371093-11476900	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1058734	chr20:11389232-11479953	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv522929	chr20:11411026-11516418	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11417000-11432200	Weak transcription	A549	lung
2	chr20:11421200-11428000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr20:11423800-11429800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr20:11423800-11432400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr20:11424200-11427200	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr20:11424600-11428200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr20:11424600-11428400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr20:11424800-11427600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr20:11424800-11427800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr20:11424800-11427800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr20:11424800-11428000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr20:11424800-11428000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr20:11424800-11428200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr20:11424800-11428200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr20:11424800-11428200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr20:11424800-11428200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr20:11424800-11432400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr20:11425000-11432200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr20:11425400-11428200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr20:11426200-11427600	Weak transcription	Psoas Muscle	Psoas
21	chr20:11426200-11428400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr20:11426400-11426800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr20:11426400-11432200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr20:11426600-11427200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr20:11426600-11432200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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