Variant report

Variant	rs8020841
Chromosome Location	chr14:70512159-70512160
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs1122271	0.82[CEU][hapmap]
rs17107695	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.90[MKK][hapmap];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17175458	0.83[MEX][hapmap]
rs3809401	0.90[CEU][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes]
rs8010945	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs8020841	KIAA0247	cis	cerebellum	SCAN
rs8020841	RBM25	cis	cerebellum	SCAN
rs8020841	ATP6V1D	cis	cerebellum	SCAN
rs8020841	SMOC1	cis	cerebellum	SCAN

Chromatin state (count:11 , 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

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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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