Variant report

Variant	rs562559
Chromosome Location	chr6:53947087-53947088
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1150877	1.00[JPT][hapmap]
rs12193888	1.00[JPT][hapmap]
rs1321884	1.00[JPT][hapmap]
rs1321885	1.00[JPT][hapmap]
rs1342829	1.00[JPT][hapmap]
rs1407233	1.00[JPT][hapmap]
rs1407234	1.00[JPT][hapmap]
rs2754779	1.00[JPT][hapmap]
rs2754783	1.00[JPT][hapmap]
rs2754790	1.00[JPT][hapmap]
rs2797424	1.00[JPT][hapmap]
rs2797426	1.00[JPT][hapmap]
rs2797427	1.00[JPT][hapmap]
rs2797428	1.00[JPT][hapmap]
rs2797429	1.00[JPT][hapmap]
rs2797430	1.00[JPT][hapmap]
rs4715446	1.00[JPT][hapmap]
rs4715447	1.00[JPT][hapmap]
rs499594	1.00[JPT][hapmap]
rs631441	1.00[JPT][hapmap]
rs677434	1.00[JPT][hapmap]
rs768358	1.00[JPT][hapmap]
rs7742515	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs816366	1.00[JPT][hapmap]
rs816368	1.00[JPT][hapmap]
rs816369	1.00[JPT][hapmap]
rs816374	1.00[JPT][hapmap]
rs816376	1.00[JPT][hapmap]
rs816377	1.00[JPT][hapmap]
rs816380	1.00[JPT][hapmap]
rs816388	1.00[JPT][hapmap]
rs843826	1.00[JPT][hapmap]
rs843828	1.00[JPT][hapmap]
rs9474745	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067663	chr6:53796341-54449718	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529158	chr6:53796341-54449718	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv2758055	chr6:53839373-53996093	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv2759431	chr6:53839373-54007349	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv5307	chr6:53874118-53952230	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv603110	chr6:53885918-54103794	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv7901	chr6:53914491-53981080	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv823691	chr6:53918427-53978766	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv885885	chr6:53920024-54046264	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv34853	chr6:53924697-53977449	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv603119	chr6:53929484-53947087	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
12	nsv603120	chr6:53929484-53951857	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv603121	chr6:53929484-53951990	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv1017633	chr6:53935336-54118476	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53940000-53949800	Weak transcription	Left Ventricle	heart
2	chr6:53941400-53948200	Weak transcription	Psoas Muscle	Psoas
3	chr6:53941400-53955000	Weak transcription	Right Ventricle	heart
4	chr6:53941600-53949800	Weak transcription	Fetal Muscle Leg	muscle
5	chr6:53942200-53948200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:53942800-53948000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:53942800-53948200	Weak transcription	Fetal Heart	heart
8	chr6:53942800-53948400	Weak transcription	Fetal Brain Male	brain
9	chr6:53943400-53947200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr6:53945000-53970800	Weak transcription	Right Atrium	heart
11	chr6:53945800-53948200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:53947000-53947600	Enhancers	Skeletal Muscle Male	skeletal muscle

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