Variant report

Variant	rs73303511
Chromosome Location	chr12:32676033-32676034
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57318963	1.00[AMR][1000 genomes]
rs7133663	1.00[AMR][1000 genomes]
rs7312178	1.00[AMR][1000 genomes]
rs73301595	1.00[AMR][1000 genomes]
rs73303524	1.00[AMR][1000 genomes]
rs73303600	1.00[AMR][1000 genomes]
rs73305519	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1054191	chr12:32534619-32733066	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv541455	chr12:32534619-32733066	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv3342938	chr12:32551041-32716745	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv898970	chr12:32622097-32680236	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32655200-32686000	Weak transcription	Lung	lung
2	chr12:32656400-32685800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:32658600-32682000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:32666600-32685200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr12:32668200-32685800	Weak transcription	Gastric	stomach
6	chr12:32668400-32678000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:32668400-32702600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:32668800-32686600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:32669800-32687000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:32671600-32686000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:32672800-32677200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr12:32673800-32676200	Enhancers	NHDF-Ad	bronchial
13	chr12:32673800-32676600	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr12:32673800-32676600	Enhancers	Adipose Nuclei	Adipose
15	chr12:32673800-32676600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr12:32673800-32676600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr12:32674000-32676600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:32674200-32676400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr12:32674200-32676600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:32674200-32677200	Enhancers	Primary B cells from peripheral blood	blood
21	chr12:32674400-32677200	Enhancers	Primary B cells from cord blood	blood
22	chr12:32674400-32677200	Enhancers	Primary hematopoietic stem cells	blood
23	chr12:32674600-32676400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:32674600-32676400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:32674600-32676400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:32674600-32676600	Enhancers	Brain Angular Gyrus	brain
27	chr12:32674800-32676600	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr12:32675000-32676200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:32675000-32676200	Enhancers	Liver	Liver
30	chr12:32675000-32676200	Enhancers	Fetal Muscle Leg	muscle
31	chr12:32675000-32676200	Enhancers	Left Ventricle	heart
32	chr12:32675000-32676200	Enhancers	HSMM	muscle
33	chr12:32675000-32676600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:32675200-32676200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:32675200-32676200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:32675200-32676200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:32675200-32676200	Enhancers	Brain Germinal Matrix	brain
38	chr12:32675200-32676200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr12:32675200-32676200	Enhancers	Ovary	ovary
40	chr12:32675200-32676600	Enhancers	Fetal Thymus	thymus
41	chr12:32675200-32676800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr12:32675400-32676200	Enhancers	Psoas Muscle	Psoas
43	chr12:32675400-32676200	Enhancers	HSMMtube	muscle
44	chr12:32675600-32676200	Flanking Active TSS	Brain Hippocampus Middle	brain
45	chr12:32675600-32676200	Enhancers	Right Ventricle	heart
46	chr12:32675600-32676200	Enhancers	Stomach Mucosa	stomach
47	chr12:32675600-32676200	Enhancers	Stomach Smooth Muscle	stomach
48	chr12:32675600-32676400	Enhancers	Brain Cingulate Gyrus	brain
49	chr12:32675600-32676400	Enhancers	Duodenum Mucosa	Duodenum
50	chr12:32675600-32676600	Enhancers	Rectal Mucosa Donor 31	rectum

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