Variant report

Variant	rs2645306
Chromosome Location	chr1:119535183-119535184
allele	A/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]
rs1014098	1.00[LWK][hapmap];0.93[YRI][hapmap]
rs17022901	0.88[AFR][1000 genomes]
rs17023129	1.00[MEX][hapmap]
rs17023211	1.00[MEX][hapmap]
rs2256171	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2256826	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2645286	0.93[YRI][hapmap]
rs2645287	0.88[AFR][1000 genomes]
rs2645298	0.84[AFR][1000 genomes]
rs2645304	0.88[AFR][1000 genomes]
rs2645307	0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2765535	0.88[AFR][1000 genomes]
rs2799756	0.84[AFR][1000 genomes]
rs2799757	0.88[AFR][1000 genomes]
rs2799758	0.88[AFR][1000 genomes]
rs2810933	0.86[ASW][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs2810934	0.82[AFR][1000 genomes]
rs4600087	1.00[MEX][hapmap]
rs74112208	0.88[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	esv3494191	chr1:118772550-119719548	Enhancers Strong transcription Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv3494192	chr1:118772550-119719548	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv997707	chr1:119199568-119595949	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
5	nsv1001322	chr1:119527403-119569504	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119531200-119538200	Weak transcription	Right Atrium	heart
2	chr1:119532200-119535800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:119533000-119535800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
4	chr1:119533600-119535600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
5	chr1:119533600-119537000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:119534000-119535800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:119534800-119535400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
8	chr1:119535000-119536000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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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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