Variant report

Variant	rs188193992
Chromosome Location	chr12:75849879-75849880
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492067	chr12:75415458-76077537	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv899313	chr12:75715330-76057811	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv428592	chr12:75766619-75936721	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	esv3451611	chr12:75849720-75853658	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75847000-75851200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:75847800-75854200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:75848600-75850600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr12:75848600-75852000	Enhancers	Dnd41	blood
5	chr12:75848800-75851800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr12:75849000-75851600	Enhancers	Primary hematopoietic stem cells	blood
7	chr12:75849200-75850000	Enhancers	Placenta	Placenta
8	chr12:75849400-75850000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:75849400-75850000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr12:75849400-75850400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:75849600-75850000	Enhancers	Primary T cells fromperipheralblood	blood
12	chr12:75849600-75852000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr12:75849600-75852200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:75849600-75854800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:75849600-75854800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:75849800-75851800	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr12:75849800-75851800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr12:75849800-75852400	Enhancers	Primary T helper cells fromperipheralblood	blood

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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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