Variant report

Variant	rs165384
Chromosome Location	chr2:180697540-180697541
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12998578	1.00[EUR][1000 genomes]
rs13024417	0.94[EUR][1000 genomes]
rs165375	0.94[EUR][1000 genomes]
rs165377	0.94[EUR][1000 genomes]
rs165383	1.00[CHD][hapmap]
rs187744	1.00[CHD][hapmap]
rs259814	1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[EUR][1000 genomes]
rs259815	0.84[EUR][1000 genomes]
rs259832	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs357717	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs357718	1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs35870821	1.00[EUR][1000 genomes]
rs6709255	1.00[EUR][1000 genomes]
rs71425646	1.00[EUR][1000 genomes]
rs73048563	0.94[EUR][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	nsv1002305	chr2:180568558-180812846	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv428731	chr2:180629389-180805171	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv875472	chr2:180696414-181024926	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
4	nsv875473	chr2:180696414-181055597	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180692000-180702000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr2:180692000-180704400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:180696400-180697600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:180696600-180697600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr2:180697000-180702000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:180697200-180701600	Weak transcription	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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