Variant report

Variant	rs60041948
Chromosome Location	chr6:145565494-145565495
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17074907	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4990866	0.91[AFR][1000 genomes]
rs56968627	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59481112	0.98[AFR][1000 genomes]
rs6904351	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6935017	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6935914	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73562134	0.98[AFR][1000 genomes]
rs9484960	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016747	chr6:144917411-145599874	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1022965	chr6:145374851-145635385	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145560400-145565800	Weak transcription	Fetal Brain Male	brain
2	chr6:145561600-145566200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:145562800-145566400	Weak transcription	NH-A	brain
4	chr6:145562800-145568000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:145562800-145568000	Weak transcription	Hela-S3	cervix
6	chr6:145562800-145568600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:145563000-145568600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:145563000-145568600	Weak transcription	Osteobl	bone
9	chr6:145563200-145565800	Weak transcription	A549	lung
10	chr6:145563200-145565800	Weak transcription	NHDF-Ad	bronchial
11	chr6:145563200-145566000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:145563200-145568600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:145564800-145567200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:145565200-145567400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:145565400-145566400	Enhancers	HepG2	liver

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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