Variant report

Variant	rs138250246
Chromosome Location	chr12:9857341-9857342
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
2	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	nsv983235	chr12:9852218-9893776	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv2757490	chr12:9855958-9888553	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9840600-9864600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:9841800-9863200	Weak transcription	HSMMtube	muscle
3	chr12:9844200-9860600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:9847600-9860000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr12:9848200-9860200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:9848400-9860200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr12:9848600-9859400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:9849800-9860600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:9853400-9858400	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr12:9853400-9858400	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr12:9854600-9860000	Weak transcription	Left Ventricle	heart
12	chr12:9854800-9860000	Weak transcription	Spleen	Spleen
13	chr12:9855000-9857400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr12:9855000-9860200	Enhancers	Primary T cells from cord blood	blood
15	chr12:9855200-9858800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:9855200-9860000	Weak transcription	Esophagus	oesophagus
17	chr12:9855400-9858600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr12:9855600-9858200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr12:9855600-9860200	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr12:9855600-9860600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:9855600-9862800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr12:9855800-9858600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr12:9855800-9858600	Weak transcription	Thymus	Thymus
24	chr12:9856200-9858000	Weak transcription	Primary B cells from cord blood	blood
25	chr12:9856200-9860000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:9856200-9860000	Weak transcription	Fetal Thymus	thymus
27	chr12:9856400-9857600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:9856400-9858600	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr12:9856400-9858600	Weak transcription	Dnd41	blood
30	chr12:9856600-9857800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr12:9856600-9858000	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr12:9856800-9858000	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr12:9857000-9858000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr12:9857200-9858600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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