Variant report

Variant	rs78929984
Chromosome Location	chr12:41182571-41182572
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427909	chr12:41054306-41322257	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv832379	chr12:41054440-41232749	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832380	chr12:41132306-41323961	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv469362	chr12:41155000-41206520	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv558697	chr12:41155000-41206520	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv469363	chr12:41155000-41214848	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv558698	chr12:41155000-41214848	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3423420	chr12:41182110-41184658	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
9	esv3442223	chr12:41182460-41184508	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41146200-41187400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:41175600-41201800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:41178600-41186800	Weak transcription	Ovary	ovary
4	chr12:41181800-41182800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr12:41182000-41182600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr12:41182000-41182600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr12:41182000-41182600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:41182000-41182600	Enhancers	Fetal Lung	lung
9	chr12:41182000-41182600	Enhancers	A549	lung
10	chr12:41182000-41182800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr12:41182000-41182800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr12:41182000-41182800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr12:41182000-41184200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:41182400-41183800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:41182400-41184800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:41182400-41186800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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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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