Variant report

Variant	rs539905906
Chromosome Location	chr12:122628073-122628074
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122622900..122624989-chr12:122626471..122629379,3	K562	blood:
2	chr12:122625141..122628118-chr12:122628631..122630468,2	MCF-7	breast:
3	chr12:122499990..122501497-chr12:122627498..122629614,2	K562	blood:
4	chr12:122627308..122628823-chr12:122630671..122632558,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256546	Chromatin interaction

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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899569	chr12:122478728-122630909	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv527450	chr12:122481290-122676531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv1038827	chr12:122627371-122687913	Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122608600-122632800	Strong transcription	Fetal Stomach	stomach
2	chr12:122610200-122629200	Strong transcription	Primary T cells from cord blood	blood
3	chr12:122610200-122629200	Strong transcription	Fetal Thymus	thymus
4	chr12:122610400-122630600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:122610400-122630600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:122610600-122629200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr12:122610600-122629400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:122610600-122633200	Weak transcription	Right Atrium	heart
9	chr12:122610800-122628800	Strong transcription	Primary B cells from peripheral blood	blood
10	chr12:122610800-122630600	Strong transcription	Thymus	Thymus
11	chr12:122611200-122630400	Strong transcription	Gastric	stomach
12	chr12:122611400-122628800	Strong transcription	Pancreas	Pancrea
13	chr12:122611400-122629800	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr12:122611400-122630400	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr12:122611600-122629000	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr12:122611600-122630000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:122611600-122630600	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr12:122611800-122628800	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr12:122611800-122628800	Strong transcription	Fetal Lung	lung
20	chr12:122611800-122628800	Strong transcription	Rectal Smooth Muscle	rectum
21	chr12:122611800-122629000	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr12:122611800-122629400	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr12:122612000-122628600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:122612000-122628800	Strong transcription	Fetal Brain Female	brain
25	chr12:122612000-122629400	Strong transcription	Duodenum Mucosa	Duodenum
26	chr12:122612000-122630600	Strong transcription	Colonic Mucosa	Colon
27	chr12:122612000-122631000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:122612000-122632400	Strong transcription	Fetal Intestine Small	intestine
29	chr12:122612200-122628800	Strong transcription	Adipose Nuclei	Adipose
30	chr12:122612200-122632400	Strong transcription	Stomach Smooth Muscle	stomach
31	chr12:122613400-122628800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:122615600-122630600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:122615800-122630800	Weak transcription	Hela-S3	cervix
34	chr12:122616000-122628400	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr12:122616000-122629200	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr12:122616000-122631600	Weak transcription	Fetal Brain Male	brain
37	chr12:122616200-122632600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr12:122616600-122629200	Strong transcription	Colon Smooth Muscle	Colon
39	chr12:122617800-122630000	Weak transcription	NH-A	brain
40	chr12:122618000-122629000	Strong transcription	Liver	Liver
41	chr12:122618000-122629200	Strong transcription	Ovary	ovary
42	chr12:122620200-122630800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr12:122622400-122628600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr12:122622400-122628800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr12:122622400-122628800	Strong transcription	Brain Germinal Matrix	brain
46	chr12:122622600-122628600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr12:122622600-122628600	Strong transcription	Left Ventricle	heart
48	chr12:122622800-122628600	Strong transcription	Placenta	Placenta
49	chr12:122622800-122629200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:122623000-122628600	Strong transcription	Esophagus	oesophagus

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