Variant report

Variant	rs12072348
Chromosome Location	chr1:154547292-154547293
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:154546579..154549770-chr1:154561916..154566761,4	MCF-7	breast:
2	chr1:154546124..154548588-chr1:154550087..154552414,2	K562	blood:
3	chr1:154547230..154551132-chr1:154598829..154601227,4	MCF-7	breast:
4	chr1:154546778..154551226-chr1:154579208..154581578,3	MCF-7	breast:
5	chr1:154539579..154545447-chr1:154547241..154552773,6	K562	blood:

Variant related genes	Relation type
ENSG00000160710	Chromatin interaction
ENSG00000160716	Chromatin interaction
ENSG00000233875	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs3008433	0.88[AFR][1000 genomes]
rs4845378	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer 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 target site	65 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154540800-154547400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:154540800-154550600	Weak transcription	Gastric	stomach
3	chr1:154540800-154550800	Weak transcription	HMEC	breast
4	chr1:154540800-154551600	Weak transcription	Pancreas	Pancrea
5	chr1:154541000-154549800	Weak transcription	Right Atrium	heart
6	chr1:154541200-154550800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:154542800-154551600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr1:154544000-154550200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:154544400-154549600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:154544400-154550000	Weak transcription	A549	lung
11	chr1:154544400-154550200	Weak transcription	Thymus	Thymus
12	chr1:154544400-154550600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:154544400-154551200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr1:154544600-154549800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:154545000-154549200	Genic enhancers	Brain Germinal Matrix	brain
16	chr1:154545000-154550200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:154545200-154547400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:154545400-154549800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:154545400-154550800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr1:154545400-154561800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr1:154545600-154548800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:154545600-154549400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr1:154545600-154549400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:154545600-154552400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:154545800-154547800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:154545800-154548000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:154545800-154549400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:154545800-154549400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:154545800-154550600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr1:154545800-154551000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr1:154545800-154551200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:154546000-154548000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:154546000-154550400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr1:154546000-154550400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr1:154546200-154547800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:154546200-154549400	Weak transcription	Primary T cells from cord blood	blood
37	chr1:154546200-154549600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:154546200-154550800	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr1:154546400-154550600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr1:154546600-154549400	Weak transcription	Fetal Stomach	stomach
41	chr1:154546600-154550800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:154546600-154551000	Weak transcription	Dnd41	blood
43	chr1:154546800-154548000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:154546800-154548600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:154546800-154549800	Enhancers	Fetal Muscle Leg	muscle
46	chr1:154546800-154550200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr1:154546800-154550800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:154547000-154547400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr1:154547000-154547400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:154547000-154547600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung

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