Variant report

Variant	rs546221
Chromosome Location	chr6:165764063-165764064
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs3778248	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3799146	0.82[ASN][1000 genomes]
rs3799148	0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3799156	0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3799160	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs471607	1.00[ASN][1000 genomes]
rs472328	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs484842	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs509939	0.86[CEU][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs513240	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs525643	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs537131	0.84[EUR][1000 genomes]
rs541938	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs546311	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs550868	1.00[ASN][1000 genomes]
rs551444	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55694649	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs56854061	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs571047	0.87[EUR][1000 genomes]
rs62442142	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62442144	0.91[ASN][1000 genomes]
rs851951	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs851963	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][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	nsv432982	chr6:165528589-165835589	Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv605245	chr6:165542686-165845903	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking 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	2 gene(s)	inside rSNPs	diseases
3	nsv1031648	chr6:165544569-165841029	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv432983	chr6:165554403-165851585	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	esv3417270	chr6:165682773-166023032	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv886928	chr6:165722345-166197889	Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:165744000-165769000	Weak transcription	Ovary	ovary
2	chr6:165744800-165801200	Weak transcription	Hela-S3	cervix
3	chr6:165745200-165770000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:165745600-165802800	Weak transcription	Fetal Heart	heart
5	chr6:165747400-165802600	Weak transcription	HSMMtube	muscle
6	chr6:165747600-165853000	Weak transcription	A549	lung
7	chr6:165749200-165769800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr6:165749800-165775000	Weak transcription	Fetal Lung	lung
9	chr6:165754600-165764800	Weak transcription	Fetal Brain Male	brain
10	chr6:165762600-165765200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:165762600-165766600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:165763000-165764200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:165763000-165764200	ZNF genes & repeats	Brain Germinal Matrix	brain
14	chr6:165763200-165764200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:165763200-165764200	ZNF genes & repeats	Fetal Muscle Leg	muscle
16	chr6:165763200-165764400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:165763400-165764200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
18	chr6:165763800-165768800	Weak transcription	HSMM	muscle
19	chr6:165763800-165770800	Weak transcription	Brain Anterior Caudate	brain
20	chr6:165763800-165771200	Weak transcription	Brain Angular Gyrus	brain
21	chr6:165763800-165775800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr6:165763800-165789600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:165763800-165797000	Weak transcription	Right Ventricle	heart
24	chr6:165763800-165797600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:165764000-165769000	Weak transcription	Left Ventricle	heart

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