Variant report

Variant	rs67752507
Chromosome Location	chr12:67697774-67697775
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:67660830..67663060-chr12:67697055..67700742,3	K562	blood:
2	chr12:67697667..67699390-chr12:67705731..67708067,2	K562	blood:
3	chr12:67661368..67664788-chr12:67696254..67698548,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111530	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12815705	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12824549	1.00[AMR][1000 genomes]
rs12825266	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12833866	1.00[AMR][1000 genomes]
rs56320762	1.00[AMR][1000 genomes]
rs61919016	1.00[AMR][1000 genomes]
rs61919041	1.00[AMR][1000 genomes]
rs67547277	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67739703	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73128747	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541524	chr12:67311057-67700349	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv525023	chr12:67672870-67708669	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67664800-67699600	Weak transcription	Aorta	Aorta
2	chr12:67665200-67699000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:67666000-67701000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:67670000-67699200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:67670200-67698200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:67671400-67698400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:67672200-67699000	Weak transcription	Esophagus	oesophagus
8	chr12:67673200-67699400	Weak transcription	Small Intestine	intestine
9	chr12:67674600-67708000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:67674800-67697800	Strong transcription	Fetal Thymus	thymus
11	chr12:67674800-67706400	Weak transcription	Stomach Mucosa	stomach
12	chr12:67678600-67699000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:67681000-67698200	Weak transcription	Brain Substantia Nigra	brain
14	chr12:67681000-67714200	Weak transcription	Spleen	Spleen
15	chr12:67681200-67699200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr12:67682200-67699400	Weak transcription	Pancreas	Pancrea
17	chr12:67682200-67709000	Strong transcription	Dnd41	blood
18	chr12:67682200-67715200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:67682400-67707600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr12:67682600-67710600	Weak transcription	Right Ventricle	heart
21	chr12:67683400-67710600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:67684400-67708400	Strong transcription	GM12878-XiMat	blood
23	chr12:67684800-67698400	Weak transcription	Lung	lung
24	chr12:67684800-67698800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:67684800-67699000	Weak transcription	Gastric	stomach
26	chr12:67685000-67698800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:67685800-67708000	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr12:67686000-67717000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:67686200-67708800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:67686200-67711200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:67686200-67716200	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr12:67686400-67707800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:67686400-67708800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr12:67686400-67708800	Strong transcription	Primary B cells from peripheral blood	blood
35	chr12:67686400-67708800	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr12:67686400-67709000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr12:67686400-67709000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:67686400-67716000	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr12:67686600-67708600	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr12:67686600-67708800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:67686600-67708800	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr12:67686800-67709000	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr12:67687200-67698400	Weak transcription	Colonic Mucosa	Colon
44	chr12:67687200-67700000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:67687200-67708600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr12:67687600-67708200	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr12:67687600-67708600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:67687600-67708800	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr12:67687600-67708800	Strong transcription	Liver	Liver
50	chr12:67687600-67708800	Strong transcription	Rectal Mucosa Donor 29	rectum

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