Variant report

Variant	rs551700091
Chromosome Location	chr12:60088892-60088893
allele	A/G
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	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv899131	chr12:59942122-60124089	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3365928	chr12:60042531-60343212	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv2829972	chr12:60079404-60111653	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv899132	chr12:60087572-60211476	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60026600-60089200	Weak transcription	Gastric	stomach
2	chr12:60045800-60099800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:60050800-60098600	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr12:60069600-60131400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr12:60071600-60098600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr12:60072200-60098600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr12:60072800-60098000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr12:60073000-60089000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:60084400-60090800	Weak transcription	Fetal Heart	heart
10	chr12:60085200-60098600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:60086000-60102400	Weak transcription	Primary T cells from cord blood	blood
12	chr12:60086200-60089000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:60086200-60089000	Weak transcription	Left Ventricle	heart
14	chr12:60086200-60098400	Weak transcription	Primary B cells from cord blood	blood
15	chr12:60086200-60105200	Weak transcription	Aorta	Aorta
16	chr12:60086200-60106400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:60087600-60108000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr12:60088200-60093600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:60088400-60093400	Enhancers	NHDF-Ad	bronchial
20	chr12:60088800-60089800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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