Variant report

Variant	rs9482896
Chromosome Location	chr6:128847060-128847061
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1341601	1.00[AFR][1000 genomes]
rs13437530	0.80[AFR][1000 genomes]
rs13437537	0.80[AFR][1000 genomes]
rs766305	1.00[AFR][1000 genomes]
rs7751016	0.80[AFR][1000 genomes]
rs7760423	0.80[AFR][1000 genomes]
rs9321123	0.93[AFR][1000 genomes]
rs9482899	0.87[AFR][1000 genomes]
rs9491978	0.92[AFR][1000 genomes]
rs9491979	0.92[AFR][1000 genomes]
rs9491980	0.92[AFR][1000 genomes]
rs9491981	1.00[AFR][1000 genomes]
rs9491982	1.00[AFR][1000 genomes]
rs9491987	1.00[AFR][1000 genomes]
rs9491989	1.00[AFR][1000 genomes]
rs9491992	0.80[AFR][1000 genomes]
rs9491993	0.80[AFR][1000 genomes]
rs9491998	0.80[AFR][1000 genomes]
rs9492016	0.80[AFR][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	nsv1033443	chr6:128306654-128899203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv538440	chr6:128306654-128899203	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1020071	chr6:128579774-129048919	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv538441	chr6:128579774-129048919	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv830800	chr6:128710631-128878435	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128842600-128848800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:128842800-128853800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:128844000-128859200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:128845000-128847400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:128845600-128847600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:128845800-128847600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:128845800-128848200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:128846200-128847400	Enhancers	Brain Germinal Matrix	brain
9	chr6:128846200-128847800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:128846400-128847400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr6:128846400-128847400	Enhancers	Brain Hippocampus Middle	brain
12	chr6:128846400-128847600	Enhancers	Brain Substantia Nigra	brain
13	chr6:128846400-128847600	Enhancers	Fetal Brain Male	brain
14	chr6:128846600-128847200	Weak transcription	Fetal Brain Female	brain
15	chr6:128846600-128848200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:128846800-128848600	Weak transcription	HepG2	liver
17	chr6:128847000-128847200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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