Variant report

Variant	rs542297758
Chromosome Location	chr12:106621951-106621952
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:106621785..106624266-chr12:106738678..106741420,2	MCF-7	breast:
2	chr12:106620792..106623041-chr12:106734428..106736723,2	MCF-7	breast:
3	chr12:106618176..106623447-chr12:106639085..106644031,7	MCF-7	breast:
4	chr12:106619967..106622887-chr12:106695577..106697877,2	MCF-7	breast:
5	chr12:106617980..106623111-chr12:106673260..106676714,5	MCF-7	breast:
6	chr12:106620786..106622962-chr12:106640518..106642749,2	MCF-7	breast:
7	chr12:106620940..106625050-chr12:106630217..106634289,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258355	Chromatin interaction
ENSG00000136026	Chromatin interaction
ENSG00000166046	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1830730	chr12:106621530-106642222	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106606600-106626400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:106618000-106632000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:106618000-106632200	Weak transcription	Psoas Muscle	Psoas
4	chr12:106618600-106630600	Weak transcription	Ovary	ovary
5	chr12:106618600-106632200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:106620800-106622000	Enhancers	Primary B cells from peripheral blood	blood
7	chr12:106620800-106622000	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr12:106620800-106622000	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr12:106620800-106622000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:106620800-106622000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:106620800-106622000	Enhancers	Fetal Heart	heart
12	chr12:106620800-106622000	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr12:106620800-106622000	Enhancers	Hela-S3	cervix
14	chr12:106620800-106622000	Enhancers	NHEK	skin
15	chr12:106620800-106622200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:106620800-106622200	Enhancers	Primary T cells from cord blood	blood
17	chr12:106620800-106622200	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr12:106620800-106622200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:106620800-106622200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr12:106620800-106622200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr12:106620800-106622200	Enhancers	HMEC	breast
22	chr12:106620800-106622400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr12:106620800-106622400	Enhancers	Primary T cells fromperipheralblood	blood
24	chr12:106620800-106622400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:106620800-106622400	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr12:106620800-106622400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:106620800-106623000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr12:106620800-106623200	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr12:106620800-106630400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr12:106621000-106622000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr12:106621000-106625000	Weak transcription	Left Ventricle	heart
32	chr12:106621200-106632000	Weak transcription	Brain Hippocampus Middle	brain
33	chr12:106621200-106632600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr12:106621400-106630200	Weak transcription	NHLF	lung
35	chr12:106621400-106632600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr12:106621400-106638200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr12:106621600-106622200	Bivalent Enhancer	Primary B cells from cord blood	blood
38	chr12:106621600-106624800	Weak transcription	Right Atrium	heart
39	chr12:106621600-106626600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:106621600-106630400	Weak transcription	HSMM	muscle
41	chr12:106621600-106630600	Weak transcription	Liver	Liver
42	chr12:106621600-106630600	Weak transcription	A549	lung
43	chr12:106621600-106631400	Weak transcription	Adipose Nuclei	Adipose
44	chr12:106621600-106631800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr12:106621600-106632600	Weak transcription	Colonic Mucosa	Colon
46	chr12:106621600-106632800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr12:106621800-106622000	Enhancers	Brain Germinal Matrix	brain
48	chr12:106621800-106622400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr12:106621800-106627600	Weak transcription	Esophagus	oesophagus
50	chr12:106621800-106628000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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