Variant report

Variant	rs7970332
Chromosome Location	chr12:4819319-4819320
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10492058	0.86[EUR][1000 genomes]
rs10849132	0.97[EUR][1000 genomes]
rs10849135	0.93[EUR][1000 genomes]
rs11063325	0.92[EUR][1000 genomes]
rs11063330	0.90[EUR][1000 genomes]
rs11835306	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12367189	0.96[EUR][1000 genomes]
rs12371407	0.98[EUR][1000 genomes]
rs1860346	0.93[EUR][1000 genomes]
rs7295581	0.98[EUR][1000 genomes]
rs7296976	0.98[EUR][1000 genomes]
rs7957766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7960375	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975622	0.86[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	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv525579	chr12:4816890-4822915	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4799600-4826800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:4807400-4823800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:4810000-4827200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:4811200-4833600	Weak transcription	Brain Germinal Matrix	brain
5	chr12:4817600-4821800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr12:4817600-4823800	Weak transcription	Liver	Liver
7	chr12:4817800-4825000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:4818400-4820000	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr12:4819200-4820800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte 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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