Variant report

Variant	rs571454650
Chromosome Location	chr12:45599803-45599804
allele	-/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:45594592..45596629-chr12:45598522..45601377,2	MCF-7	breast:
2	chr12:45593253..45599943-chr12:45607385..45612735,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177119	Chromatin interaction
ENSG00000257738	Chromatin interaction
ENSG00000134297	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv3342692	chr12:45599510-45602058	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
3	esv3414622	chr12:45599685-45601883	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45586600-45602400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:45593400-45600000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:45595200-45608600	Weak transcription	Fetal Thymus	thymus
4	chr12:45595200-45608600	Weak transcription	Small Intestine	intestine
5	chr12:45595400-45608600	Weak transcription	Fetal Intestine Large	intestine
6	chr12:45596800-45600400	Enhancers	Liver	Liver
7	chr12:45597000-45600400	Enhancers	Adipose Nuclei	Adipose
8	chr12:45598200-45600400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:45598200-45600400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr12:45598600-45600000	Enhancers	Primary T cells fromperipheralblood	blood
11	chr12:45598600-45600200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:45598600-45600400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr12:45598600-45600400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr12:45598800-45600000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:45598800-45600200	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr12:45598800-45600400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:45598800-45600400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr12:45599000-45600200	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr12:45599000-45600200	Enhancers	Primary T cells from cord blood	blood
20	chr12:45599000-45600200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr12:45599000-45600400	Enhancers	Primary B cells from peripheral blood	blood
22	chr12:45599000-45600400	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr12:45599200-45600000	Enhancers	Primary hematopoietic stem cells	blood
24	chr12:45599200-45600000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr12:45599200-45600000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:45599200-45600200	Enhancers	Primary B cells from cord blood	blood
27	chr12:45599200-45600200	Enhancers	Thymus	Thymus
28	chr12:45599200-45600200	Enhancers	GM12878-XiMat	blood
29	chr12:45599200-45600400	Enhancers	HUVEC	blood vessel
30	chr12:45599400-45600200	Enhancers	Dnd41	blood
31	chr12:45599400-45600400	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr12:45599400-45600400	Enhancers	Spleen	Spleen
33	chr12:45599400-45601400	Weak transcription	HepG2	liver
34	chr12:45599800-45600000	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr12:45599800-45600200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr12:45599800-45600200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:45599800-45600400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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