Variant report

Variant	rs9493296
Chromosome Location	chr6:132689855-132689856
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:132684501..132686095-chr6:132688658..132690202,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs57477220	1.00[AMR][1000 genomes]
rs57484838	1.00[AMR][1000 genomes]
rs6938195	1.00[AMR][1000 genomes]
rs73541966	1.00[AMR][1000 genomes]
rs73541967	1.00[AMR][1000 genomes]
rs73541976	1.00[AMR][1000 genomes]
rs73541988	1.00[AMR][1000 genomes]
rs73541989	1.00[AMR][1000 genomes]
rs73541992	1.00[AMR][1000 genomes]
rs73541998	1.00[AMR][1000 genomes]
rs73544003	1.00[AMR][1000 genomes]
rs73544004	1.00[AMR][1000 genomes]
rs73544007	1.00[AMR][1000 genomes]
rs73544041	1.00[AMR][1000 genomes]
rs73544090	1.00[AMR][1000 genomes]
rs73544093	1.00[AMR][1000 genomes]
rs73553753	1.00[AMR][1000 genomes]
rs73553769	1.00[AMR][1000 genomes]
rs73553779	1.00[AMR][1000 genomes]
rs73553785	1.00[AMR][1000 genomes]
rs7751860	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9483436	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9483438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9483439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9493290	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9493291	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9493293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9493295	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886674	chr6:132613798-132694751	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv830811	chr6:132623160-132787539	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv886675	chr6:132683762-132730947	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv604668	chr6:132687248-132731358	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132677400-132701200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr6:132678600-132690400	Weak transcription	NH-A	brain
3	chr6:132679000-132690000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr6:132682000-132692200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr6:132682200-132705800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:132686600-132690200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:132686800-132690200	Weak transcription	HSMMtube	muscle
8	chr6:132687000-132690200	Weak transcription	HSMM	muscle
9	chr6:132687000-132690400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:132687200-132690000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:132687400-132690400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:132687800-132690000	Strong transcription	NHDF-Ad	bronchial
13	chr6:132688000-132692000	Weak transcription	Fetal Lung	lung
14	chr6:132688400-132692000	Weak transcription	Fetal Kidney	kidney
15	chr6:132689000-132690200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:132689000-132690800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:132689400-132690000	Weak transcription	Osteobl	bone
18	chr6:132689600-132693600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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