Variant report

Variant	rs560234414
Chromosome Location	chr12:39521643-39521644
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047623	chr12:39187817-39539939	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv832374	chr12:39468434-39630369	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv899010	chr12:39512724-39594506	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv899011	chr12:39517706-39594506	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv972980	chr12:39521585-39529863	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39517000-39523000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr12:39517400-39523000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr12:39517800-39523200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:39518400-39523000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:39518800-39523000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:39519800-39523400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:39520800-39522000	Enhancers	HUVEC	blood vessel
8	chr12:39521000-39521800	Enhancers	HMEC	breast
9	chr12:39521200-39521800	Flanking Active TSS	A549	lung
10	chr12:39521400-39522000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr12:39521600-39522000	Enhancers	hESC Derived CD56+ Mesoderm 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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