Variant report

Variant	rs548229827
Chromosome Location	chr12:123928817-123928818
allele	-/C
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	chr12:123928788-123929356	Hela-S3	cervix:	n/a	n/a
2	ARID3A	chr12:123928815-123929330	HepG2	liver:	n/a	n/a
3	CEBPB	chr12:123928805-123929310	IMR90	lung:	n/a	n/a
4	CEBPB	chr12:123928800-123929371	A549	lung:	n/a	n/a
5	TCF7L2	chr12:123928667-123929565	Hela-S3	cervix:	n/a	n/a
6	PAX5	chr12:123928717-123928953	GM12878	blood:	n/a	n/a
7	CEBPB	chr12:123928770-123929307	HepG2	liver:	n/a	n/a
8	TCF7L2	chr12:123928645-123929429	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123928730..123932409-chr12:123939432..123944416,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270445	TF binding region
ENSG00000184209	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	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1035223	chr12:123795559-123991706	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1822004	chr12:123919287-124013451	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv3415110	chr12:123927349-123929297	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123921800-123929600	Weak transcription	Spleen	Spleen
2	chr12:123921800-123930200	Weak transcription	Pancreas	Pancrea
3	chr12:123921800-123930400	Weak transcription	Brain Anterior Caudate	brain
4	chr12:123922600-123929000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr12:123926200-123929400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr12:123926200-123932800	Enhancers	Primary B cells from peripheral blood	blood
7	chr12:123926200-123933000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr12:123926600-123930200	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr12:123927200-123929400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:123927400-123929000	Weak transcription	Fetal Lung	lung
11	chr12:123927600-123929000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:123927600-123930200	Enhancers	GM12878-XiMat	blood
13	chr12:123927800-123929200	Weak transcription	Primary B cells from cord blood	blood
14	chr12:123928400-123929200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:123928400-123929600	Enhancers	Lung	lung
16	chr12:123928400-123931000	Enhancers	Primary hematopoietic stem cells	blood
17	chr12:123928600-123929600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr12:123928600-123930200	Enhancers	Hela-S3	cervix
19	chr12:123928600-123930200	Enhancers	HepG2	liver
20	chr12:123928600-123930400	Enhancers	Adipose Nuclei	Adipose
21	chr12:123928600-123930400	Weak transcription	Brain Substantia Nigra	brain
22	chr12:123928600-123931200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:123928800-123929000	Weak transcription	Fetal Kidney	kidney
24	chr12:123928800-123929600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:123928800-123929800	Enhancers	NHDF-Ad	bronchial
26	chr12:123928800-123930200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:123928800-123930200	Enhancers	Left Ventricle	heart
28	chr12:123928800-123930400	Enhancers	Osteobl	bone
29	chr12:123928800-123931000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr12:123928800-123931000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:123928800-123931200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:123928800-123931200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:123928800-123931200	Enhancers	Right Atrium	heart
34	chr12:123928800-123931400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:123928800-123931400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr12:123928800-123931400	Enhancers	Placenta	Placenta

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