Variant report

Variant	rs73125624
Chromosome Location	chr12:42323470-42323471
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11181235	1.00[EUR][1000 genomes]
rs1391002	0.81[EUR][1000 genomes]
rs1966396	0.81[EUR][1000 genomes]
rs4604952	0.81[EUR][1000 genomes]
rs4768379	0.81[EUR][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	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh 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 miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42312200-42323600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr12:42312400-42326000	Weak transcription	Psoas Muscle	Psoas
3	chr12:42314000-42326000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:42317600-42326000	Weak transcription	Brain Germinal Matrix	brain
5	chr12:42322200-42326000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:42322600-42325400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:42323000-42325800	Weak transcription	Left Ventricle	heart
8	chr12:42323200-42324600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:42323400-42323600	Enhancers	Brain Substantia Nigra	brain
10	chr12:42323400-42323600	Enhancers	Fetal Lung	lung
11	chr12:42323400-42324000	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr12:42323400-42324000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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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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