Variant report

Variant	rs11834948
Chromosome Location	chr12:56801201-56801202
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10876885	1.00[EUR][1000 genomes]
rs11171818	1.00[EUR][1000 genomes]
rs11171819	1.00[EUR][1000 genomes]
rs11171822	1.00[EUR][1000 genomes]
rs11575221	1.00[EUR][1000 genomes]
rs11575236	1.00[EUR][1000 genomes]
rs11830379	1.00[EUR][1000 genomes]
rs11832580	1.00[EUR][1000 genomes]
rs11833064	1.00[EUR][1000 genomes]
rs12306512	1.00[EUR][1000 genomes]
rs12318887	1.00[EUR][1000 genomes]
rs12322356	1.00[EUR][1000 genomes]
rs17118461	1.00[EUR][1000 genomes]
rs17118590	1.00[EUR][1000 genomes]
rs1918496	1.00[EUR][1000 genomes]
rs2629445	1.00[EUR][1000 genomes]
rs4301822	1.00[EUR][1000 genomes]
rs57387549	1.00[EUR][1000 genomes]
rs58349500	1.00[EUR][1000 genomes]
rs59286728	1.00[EUR][1000 genomes]
rs61733171	1.00[EUR][1000 genomes]
rs61733875	1.00[EUR][1000 genomes]
rs6581093	1.00[EUR][1000 genomes]
rs72478990	1.00[EUR][1000 genomes]
rs73324353	1.00[EUR][1000 genomes]
rs73324358	1.00[EUR][1000 genomes]
rs74094726	1.00[EUR][1000 genomes]
rs7954200	1.00[EUR][1000 genomes]
rs7962107	1.00[EUR][1000 genomes]
rs7975405	1.00[EUR][1000 genomes]
rs7977692	1.00[EUR][1000 genomes]
rs7979812	1.00[EUR][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	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56797200-56814200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:56799400-56831600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:56799600-56805800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:56799600-56811000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:56799800-56807600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:56800000-56806000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:56800800-56801400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:56800800-56809200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr12:56801000-56809600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:56801200-56807400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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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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