Variant report

Variant	rs1041146
Chromosome Location	chr6:53854217-53854218
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1325823	0.96[AFR][1000 genomes]
rs1325824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1359559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1570914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1570915	0.84[AFR][1000 genomes]
rs1581820	0.81[AFR][1000 genomes]
rs2182275	0.81[AFR][1000 genomes]
rs727385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7754583	0.89[AFR][1000 genomes]
rs7754712	1.00[AFR][1000 genomes]
rs9382266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9464010	0.81[AFR][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	nsv1034955	chr6:53447607-53931055	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	nsv1018062	chr6:53842588-53925192	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53851800-53854400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr6:53852000-53854400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr6:53852200-53854400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr6:53852200-53861000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr6:53852400-53854400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:53852400-53867800	Weak transcription	Fetal Heart	heart
7	chr6:53852600-53854800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr6:53853400-53855600	Weak transcription	Psoas Muscle	Psoas
9	chr6:53854200-53854600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:53854200-53854600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr6:53854200-53854600	Enhancers	Liver	Liver
12	chr6:53854200-53854800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr6:53854200-53855200	Enhancers	iPS-15b 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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