Variant report

Variant	rs2199683
Chromosome Location	chr12:21479714-21479715
allele	G/T
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:18)

rs_ID	r²[population]
rs11830939	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11830971	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11830993	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11832186	0.81[AFR][1000 genomes]
rs11832394	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11833627	0.85[AMR][1000 genomes]
rs11833771	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs11836945	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs59940564	0.81[AFR][1000 genomes]
rs60462043	0.97[AFR][1000 genomes]
rs61552073	0.85[AMR][1000 genomes]
rs7312628	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73237235	0.81[AFR][1000 genomes]
rs73237241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73248969	0.85[AMR][1000 genomes]
rs73250847	0.85[AMR][1000 genomes]
rs7486475	0.85[AMR][1000 genomes]
rs7977483	0.90[YRI][hapmap];0.85[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv557735	chr12:21443282-21538957	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21478400-21479800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:21478600-21480400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
3	chr12:21478600-21482400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:21478800-21483000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr12:21478800-21484000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr12:21479000-21481800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr12:21479400-21481800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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Input of quick search could be:

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

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