Variant report

Variant	rs17444925
Chromosome Location	chr12:57066424-57066425
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57037718..57040300-chr12:57063867..57067067,3	MCF-7	breast:
2	chr12:57062507..57064037-chr12:57065872..57067801,2	K562	blood:
3	chr12:57065480..57067011-chr12:57068619..57070888,2	K562	blood:
4	chr12:57066002..57068436-chr12:57117289..57119149,2	MCF-7	breast:
5	chr12:57065416..57068047-chr12:57082190..57083976,3	MCF-7	breast:
6	chr12:57028931..57030772-chr12:57065141..57066726,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000076108	Chromatin interaction
ENSG00000110955	Chromatin interaction
ENSG00000207031	Chromatin interaction
ENSG00000196531	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11831054	0.91[EUR][1000 genomes]
rs17118865	0.91[EUR][1000 genomes]
rs17118901	0.91[EUR][1000 genomes]
rs17541679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1800638	0.91[EUR][1000 genomes]
rs57406430	0.91[EUR][1000 genomes]
rs7136370	0.91[EUR][1000 genomes]
rs7307578	0.91[EUR][1000 genomes]
rs74091637	0.91[EUR][1000 genomes]
rs74095026	0.91[EUR][1000 genomes]
rs7954160	0.91[EUR][1000 genomes]
rs7956952	1.00[EUR][1000 genomes]
rs7958515	0.91[EUR][1000 genomes]
rs7974103	0.91[EUR][1000 genomes]
rs7974600	0.91[EUR][1000 genomes]
rs7977632	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57040400-57069400	Weak transcription	Right Atrium	heart
2	chr12:57052400-57078200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:57054200-57069600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:57054600-57067000	Strong transcription	Muscle Satellite Cultured Cells	--
5	chr12:57054800-57075800	Strong transcription	Fetal Thymus	thymus
6	chr12:57054800-57076600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:57055400-57066800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:57055600-57066600	Strong transcription	Adipose Nuclei	Adipose
9	chr12:57055600-57067200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:57055600-57068200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:57055600-57077400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:57055800-57066600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr12:57055800-57067000	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr12:57056000-57068000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:57056000-57069200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:57056200-57067200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:57056400-57066600	Strong transcription	Brain Germinal Matrix	brain
18	chr12:57056400-57067200	Strong transcription	Placenta	Placenta
19	chr12:57056400-57068000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:57056400-57068200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr12:57056400-57068200	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr12:57056600-57067000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:57056600-57067000	Strong transcription	NH-A	brain
24	chr12:57056600-57067200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr12:57056600-57067200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:57056600-57067200	Strong transcription	HUVEC	blood vessel
27	chr12:57056600-57068000	Strong transcription	GM12878-XiMat	blood
28	chr12:57056800-57066600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:57056800-57066800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:57056800-57067000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:57056800-57067200	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr12:57056800-57067800	Strong transcription	Dnd41	blood
33	chr12:57056800-57068200	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr12:57056800-57068200	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr12:57056800-57068200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:57056800-57068200	Strong transcription	HSMM	muscle
37	chr12:57057000-57067000	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr12:57057400-57066800	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr12:57057600-57068200	Strong transcription	Primary B cells from peripheral blood	blood
40	chr12:57058000-57070400	Weak transcription	Psoas Muscle	Psoas
41	chr12:57058200-57066600	Strong transcription	Osteobl	bone
42	chr12:57058800-57068200	Strong transcription	Fetal Lung	lung
43	chr12:57059200-57066600	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr12:57059600-57067000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
45	chr12:57061400-57075000	Genic enhancers	A549	lung
46	chr12:57062000-57068000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:57062400-57068400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:57063200-57067200	Strong transcription	HMEC	breast
49	chr12:57063400-57068200	Strong transcription	Primary B cells from cord blood	blood
50	chr12:57063600-57067000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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