Variant report

Variant	rs575030945
Chromosome Location	chr12:104351813-104351814
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104233713..104237034-chr12:104348727..104352026,4	MCF-7	breast:
2	chr12:104234122..104238773-chr12:104347839..104352988,5	MCF-7	breast:
3	chr12:104349867..104352216-chr12:105350654..105352678,2	MCF-7	breast:
4	chr12:104320418..104331406-chr12:104346801..104355501,25	MCF-7	breast:
5	chr12:104234073..104236683-chr12:104349820..104352847,3	K562	blood:
6	chr12:104309475..104312400-chr12:104350529..104352590,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000265072	Chromatin interaction
ENSG00000166598	Chromatin interaction
ENSG00000214198	Chromatin interaction
ENSG00000257327	Chromatin interaction
ENSG00000136052	Chromatin interaction
ENSG00000111696	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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104349400-104352000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:104349600-104352200	Active TSS	K562	blood
3	chr12:104350400-104352000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:104350400-104352200	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr12:104351400-104352000	Active TSS	HepG2	liver
6	chr12:104351400-104358000	Weak transcription	Lung	lung
7	chr12:104351400-104358000	Weak transcription	Spleen	Spleen
8	chr12:104351600-104352000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:104351600-104352000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr12:104351600-104352000	Enhancers	Primary B cells from cord blood	blood
11	chr12:104351600-104352000	Enhancers	Primary B cells from peripheral blood	blood
12	chr12:104351600-104352000	Enhancers	Primary T cells fromperipheralblood	blood
13	chr12:104351600-104352000	Enhancers	Primary hematopoietic stem cells	blood
14	chr12:104351600-104352000	Enhancers	Adipose Nuclei	Adipose
15	chr12:104351600-104352000	Enhancers	Fetal Muscle Leg	muscle
16	chr12:104351600-104352000	Enhancers	Left Ventricle	heart
17	chr12:104351600-104352200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr12:104351600-104352200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:104351600-104352200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:104351600-104352200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:104351600-104352200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:104351600-104352200	Weak transcription	HSMM	muscle
23	chr12:104351600-104352400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr12:104351600-104352400	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr12:104351600-104352400	Weak transcription	Liver	Liver
26	chr12:104351600-104352600	Enhancers	HUVEC	blood vessel
27	chr12:104351600-104352800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr12:104351600-104353000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:104351600-104353800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:104351600-104354000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:104351600-104354400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr12:104351600-104355600	Weak transcription	Brain Germinal Matrix	brain
33	chr12:104351600-104356200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:104351600-104356400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:104351600-104356400	Weak transcription	Brain Angular Gyrus	brain
36	chr12:104351600-104357000	Weak transcription	Fetal Brain Female	brain
37	chr12:104351600-104357200	Weak transcription	GM12878-XiMat	blood
38	chr12:104351600-104357400	Weak transcription	Fetal Lung	lung
39	chr12:104351600-104357400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr12:104351600-104357600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr12:104351600-104357600	Weak transcription	NHLF	lung
42	chr12:104351600-104357800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr12:104351600-104357800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr12:104351600-104357800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:104351600-104357800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr12:104351600-104357800	Weak transcription	HSMMtube	muscle
47	chr12:104351600-104357800	Weak transcription	NHDF-Ad	bronchial
48	chr12:104351600-104357800	Weak transcription	NHEK	skin
49	chr12:104351600-104357800	Weak transcription	Osteobl	bone
50	chr12:104351600-104358000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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