Variant report

Variant	rs530762741
Chromosome Location	chr12:29542727-29542728
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv975466	chr12:29541892-29547802	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29535600-29543400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:29542200-29542800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
3	chr12:29542200-29542800	Active TSS	Cortex derived primary cultured neurospheres	brain
4	chr12:29542200-29543000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
5	chr12:29542200-29543600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr12:29542400-29543000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr12:29542600-29543400	Active TSS	HUVEC	blood vessel
8	chr12:29542600-29543600	Enhancers	Primary T cells fromperipheralblood	blood
9	chr12:29542600-29544200	Enhancers	Hela-S3	cervix

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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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