Variant report

Variant	rs546844015
Chromosome Location	chr12:104352333-104352334
allele	A/G
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	POLR2A	chr12:104352133-104352497	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr12:104352288-104352449	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:104234122..104238773-chr12:104347839..104352988,5	MCF-7	breast:
2	chr12:104320418..104331406-chr12:104346801..104355501,25	MCF-7	breast:
3	chr12:104234073..104236683-chr12:104349820..104352847,3	K562	blood:
4	chr12:104309475..104312400-chr12:104350529..104352590,2	MCF-7	breast:

Variant related genes	Relation type
C12orf73	TF binding region
ENSG00000257327	Chromatin interaction
ENSG00000111696	Chromatin interaction
ENSG00000166598	Chromatin interaction
ENSG00000265072	Chromatin interaction
ENSG00000214198	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	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv1799879	chr12:104351057-104360713	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104351400-104358000	Weak transcription	Lung	lung
2	chr12:104351400-104358000	Weak transcription	Spleen	Spleen
3	chr12:104351600-104352400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:104351600-104352400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr12:104351600-104352400	Weak transcription	Liver	Liver
6	chr12:104351600-104352600	Enhancers	HUVEC	blood vessel
7	chr12:104351600-104352800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr12:104351600-104353000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:104351600-104353800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:104351600-104354000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:104351600-104354400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr12:104351600-104355600	Weak transcription	Brain Germinal Matrix	brain
13	chr12:104351600-104356200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:104351600-104356400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:104351600-104356400	Weak transcription	Brain Angular Gyrus	brain
16	chr12:104351600-104357000	Weak transcription	Fetal Brain Female	brain
17	chr12:104351600-104357200	Weak transcription	GM12878-XiMat	blood
18	chr12:104351600-104357400	Weak transcription	Fetal Lung	lung
19	chr12:104351600-104357400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr12:104351600-104357600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr12:104351600-104357600	Weak transcription	NHLF	lung
22	chr12:104351600-104357800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr12:104351600-104357800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr12:104351600-104357800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:104351600-104357800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr12:104351600-104357800	Weak transcription	HSMMtube	muscle
27	chr12:104351600-104357800	Weak transcription	NHDF-Ad	bronchial
28	chr12:104351600-104357800	Weak transcription	NHEK	skin
29	chr12:104351600-104357800	Weak transcription	Osteobl	bone
30	chr12:104351600-104358000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:104351600-104358000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr12:104351600-104358000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:104351600-104358000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:104351600-104358000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:104351600-104358000	Weak transcription	Esophagus	oesophagus
36	chr12:104351600-104358000	Weak transcription	Fetal Intestine Small	intestine
37	chr12:104351600-104358000	Weak transcription	Ovary	ovary
38	chr12:104351600-104358000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr12:104351600-104358000	Weak transcription	Right Ventricle	heart
40	chr12:104351600-104358000	Weak transcription	Thymus	Thymus
41	chr12:104351600-104358000	Weak transcription	HMEC	breast
42	chr12:104351600-104358200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:104351600-104358200	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr12:104351600-104358200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:104351600-104358200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr12:104351600-104358200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:104351600-104358200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr12:104351600-104358200	Weak transcription	Aorta	Aorta
49	chr12:104351600-104358200	Weak transcription	Brain Anterior Caudate	brain
50	chr12:104351600-104358200	Weak transcription	Brain Hippocampus Middle	brain

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