Variant report

Variant	rs73238262
Chromosome Location	chr12:9094993-9094994
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9093611..9096195-chr12:9102368..9104030,2	K562	blood:
2	chr12:9093100..9096905-chr12:9100746..9103868,4	K562	blood:

Variant related genes	Relation type
ENSG00000139187	Chromatin interaction
ENSG00000003056	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1805683	1.00[AMR][1000 genomes]
rs1805688	1.00[AMR][1000 genomes]
rs1805692	1.00[AMR][1000 genomes]
rs1805710	1.00[AMR][1000 genomes]
rs1805717	1.00[AMR][1000 genomes]
rs73236285	1.00[AMR][1000 genomes]
rs73238276	1.00[AMR][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	nsv832327	chr12:9081779-9246220	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 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	chr12:9068200-9100000	Weak transcription	Stomach Mucosa	stomach
2	chr12:9071400-9099400	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr12:9071600-9100000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:9073800-9099800	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:9078000-9095800	Weak transcription	Fetal Heart	heart
6	chr12:9084800-9095800	Weak transcription	K562	blood
7	chr12:9087000-9101200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr12:9091000-9099000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:9091600-9101200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:9093600-9099200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:9093600-9099200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr12:9093600-9099600	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr12:9093800-9095600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:9093800-9096200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:9093800-9096600	Strong transcription	H9 Cell Line	embryonic stem cell
16	chr12:9093800-9096800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:9093800-9098400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr12:9093800-9098800	Strong transcription	Primary T cells from cord blood	blood
19	chr12:9093800-9099000	Strong transcription	Fetal Intestine Large	intestine
20	chr12:9093800-9099200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr12:9093800-9099200	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr12:9093800-9099200	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr12:9093800-9099200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr12:9093800-9099200	Strong transcription	Fetal Thymus	thymus
25	chr12:9093800-9099400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:9093800-9099400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr12:9093800-9099400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:9093800-9099400	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr12:9093800-9099600	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr12:9093800-9099600	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr12:9093800-9099600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:9093800-9099600	Strong transcription	Fetal Muscle Trunk	muscle
33	chr12:9093800-9099600	Strong transcription	A549	lung
34	chr12:9093800-9099800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:9094000-9096200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
36	chr12:9094000-9098000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr12:9094000-9098200	Strong transcription	Right Ventricle	heart
38	chr12:9094000-9098200	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr12:9094000-9098200	Strong transcription	HUVEC	blood vessel
40	chr12:9094000-9098400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr12:9094000-9098400	Strong transcription	Brain Substantia Nigra	brain
42	chr12:9094000-9098600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
43	chr12:9094000-9098600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:9094000-9098600	Strong transcription	Brain Inferior Temporal Lobe	brain
45	chr12:9094000-9098600	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr12:9094000-9098600	Strong transcription	HMEC	breast
47	chr12:9094000-9098600	Strong transcription	NHDF-Ad	bronchial
48	chr12:9094000-9098800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
49	chr12:9094000-9098800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:9094000-9098800	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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