Variant report

Variant	rs41286546
Chromosome Location	chr14:70512210-70512211
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17107580	0.80[EUR][1000 genomes]
rs61977410	0.91[ASN][1000 genomes]
rs7158909	0.80[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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70500400-70512800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:70509200-70514200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr14:70510200-70512600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:70510800-70515400	Weak transcription	Fetal Brain Female	brain
5	chr14:70511200-70513800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr14:70511200-70518200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr14:70511400-70512800	Strong transcription	Psoas Muscle	Psoas
8	chr14:70511600-70519000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:70511800-70512800	Strong transcription	Skeletal Muscle Male	skeletal muscle
10	chr14:70511800-70513400	Enhancers	HMEC	breast
11	chr14:70512000-70512600	Enhancers	HSMMtube	muscle
12	chr14:70512200-70512400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:70512200-70512600	Enhancers	HepG2	liver
14	chr14:70512200-70512800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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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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