Variant report

Variant	rs532826201
Chromosome Location	chr12:40621195-40621196
allele	-/TTAAC
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:40621177-40621516	IMR90	lung:	n/a	chr12:40621347-40621358
2	CEBPB	chr12:40621180-40621515	A549	lung:	n/a	chr12:40621347-40621358
3	POLR2A	chr12:40616780-40621231	GM18951	blood:	n/a	n/a
4	CTCF	chr12:40621160-40621310	RPTEC	kidney:	n/a	n/a
5	POLR2A	chr12:40616564-40621335	GM19099	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:40615913..40618239-chr12:40619276..40621204,2	K562	blood:

Variant related genes	Relation type
ENSG00000225342	TF binding region
ENSG00000225342	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	nsv1044685	chr12:40574460-40771612	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1052661	chr12:40603049-40642812	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
3	nsv1045408	chr12:40620554-40664424	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40616000-40621200	Active TSS	Primary monocytes fromperipheralblood	blood
2	chr12:40617400-40621400	Active TSS	Aorta	Aorta
3	chr12:40618800-40621200	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr12:40619200-40621200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr12:40619400-40634600	Weak transcription	Spleen	Spleen
6	chr12:40619400-40644400	Weak transcription	Gastric	stomach
7	chr12:40619600-40636400	Weak transcription	Fetal Muscle Leg	muscle
8	chr12:40619600-40661000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:40619600-40678400	Weak transcription	Right Ventricle	heart
10	chr12:40619800-40658800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:40620200-40621400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:40620400-40621600	Active TSS	Primary hematopoietic stem cells	blood
13	chr12:40620400-40622600	Weak transcription	Psoas Muscle	Psoas
14	chr12:40620400-40630000	Weak transcription	Ovary	ovary
15	chr12:40620400-40644200	Weak transcription	Brain Angular Gyrus	brain
16	chr12:40620600-40621200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:40620800-40621400	Enhancers	Liver	Liver
18	chr12:40620800-40621400	Active TSS	Fetal Kidney	kidney
19	chr12:40620800-40622400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr12:40620800-40622400	Weak transcription	Colon Smooth Muscle	Colon
21	chr12:40620800-40622600	Weak transcription	Left Ventricle	heart
22	chr12:40620800-40623800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:40620800-40626600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:40620800-40627600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr12:40620800-40629200	Weak transcription	Stomach Mucosa	stomach
26	chr12:40620800-40629600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr12:40620800-40634800	Weak transcription	Lung	lung
28	chr12:40620800-40634800	Weak transcription	Pancreas	Pancrea
29	chr12:40620800-40644200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr12:40620800-40648000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr12:40620800-40659200	Weak transcription	Brain Anterior Caudate	brain
32	chr12:40620800-40704200	Weak transcription	Esophagus	oesophagus
33	chr12:40621000-40621200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:40621000-40621200	Flanking Active TSS	A549	lung
35	chr12:40621000-40621800	Genic enhancers	Primary B cells from peripheral blood	blood
36	chr12:40621000-40622400	Weak transcription	GM12878-XiMat	blood
37	chr12:40621000-40622600	Weak transcription	Right Atrium	heart
38	chr12:40621000-40623000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr12:40621000-40623600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr12:40621000-40629200	Weak transcription	Adipose Nuclei	Adipose
41	chr12:40621000-40630200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr12:40621000-40632000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:40621000-40643800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr12:40621000-40659800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr12:40621000-40661200	Weak transcription	Rectal Smooth Muscle	rectum

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