Variant report

Variant	rs6080111
Chromosome Location	chr20:16044986-16044987
allele	A/G
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:17)

rs_ID	r²[population]
rs10485545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12624898	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs1323300	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs16997016	1.00[CHB][hapmap]
rs16997071	0.80[AMR][1000 genomes]
rs16997087	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2066089	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6043705	0.98[ASN][1000 genomes]
rs6043708	0.97[ASN][1000 genomes]
rs6074997	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6074998	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6074999	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6080103	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6080104	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6080109	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62194240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7352607	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869328	chr20:15325423-16213898	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3447866	chr20:15799286-16115291	Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1059778	chr20:15999519-16165895	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv544207	chr20:15999519-16165895	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv585649	chr20:16004320-16066764	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1061301	chr20:16007489-16097070	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16033200-16045000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr20:16039600-16045200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr20:16040600-16045200	Weak transcription	Adipose Nuclei	Adipose
4	chr20:16042000-16047000	Enhancers	Brain Germinal Matrix	brain
5	chr20:16042400-16045000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr20:16043200-16045000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr20:16043200-16045600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr20:16043400-16045200	Weak transcription	Fetal Heart	heart
9	chr20:16043400-16046600	Enhancers	HSMM	muscle
10	chr20:16043400-16048000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr20:16043800-16045000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr20:16043800-16045000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr20:16043800-16045200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr20:16043800-16047400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr20:16043800-16047400	Enhancers	HSMMtube	muscle
16	chr20:16043800-16047600	Enhancers	Fetal Muscle Leg	muscle
17	chr20:16044000-16045000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr20:16044000-16045000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr20:16044000-16045000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr20:16044000-16045200	Enhancers	NHEK	skin
21	chr20:16044000-16047000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr20:16044000-16047000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr20:16044200-16045000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr20:16044200-16045000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr20:16044200-16045000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr20:16044200-16045000	Enhancers	HMEC	breast
27	chr20:16044200-16046400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr20:16044200-16047400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr20:16044400-16047200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr20:16044600-16045400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr20:16044600-16047000	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr20:16044600-16047800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr20:16044800-16046200	Enhancers	Fetal Brain Male	brain
34	chr20:16044800-16046200	Enhancers	Fetal Brain Female	brain
35	chr20:16044800-16046200	Enhancers	Fetal Stomach	stomach
36	chr20:16044800-16046800	Enhancers	H9 Cell Line	embryonic stem cell

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