Variant report

Variant	rs4768423
Chromosome Location	chr12:42982369-42982370
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	chr12:42975394..42979509-chr12:42980340..42982880,4	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1922763	0.82[AFR][1000 genomes]
rs2178750	0.82[AFR][1000 genomes]
rs7970092	0.82[AFR][1000 genomes]
rs7972689	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv832388	chr12:42878328-43087069	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv989438	chr12:42981066-42988699	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv3361465	chr12:42982310-42984858	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42979800-42982400	Weak transcription	Psoas Muscle	Psoas
2	chr12:42980000-42985000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:42980600-42984200	Active TSS	HSMMtube	muscle
4	chr12:42980800-42982600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:42980800-42984200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:42981000-42984000	Active TSS	Brain Angular Gyrus	brain
7	chr12:42981000-42984000	Active TSS	Fetal Muscle Leg	muscle
8	chr12:42981200-42982400	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr12:42981200-42982600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
10	chr12:42981200-42983000	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr12:42981200-42983800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
12	chr12:42981200-42984000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:42981200-42985000	Active TSS	Right Atrium	heart
14	chr12:42981400-42982400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
15	chr12:42981400-42982400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:42981400-42982400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:42981400-42982400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
18	chr12:42981400-42982400	Enhancers	Stomach Mucosa	stomach
19	chr12:42981400-42982600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:42981400-42982600	Flanking Active TSS	NHEK	skin
21	chr12:42981400-42984000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:42981400-42984000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
23	chr12:42981400-42984200	Active TSS	Brain Anterior Caudate	brain
24	chr12:42981400-42984800	Active TSS	Right Ventricle	heart
25	chr12:42981600-42982400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:42981600-42982400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr12:42981600-42982400	Weak transcription	Lung	lung
28	chr12:42981600-42982800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:42981600-42982800	Active TSS	Fetal Muscle Trunk	muscle
30	chr12:42981600-42982800	Active TSS	Fetal Stomach	stomach
31	chr12:42981600-42983000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:42981600-42983200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:42981600-42983200	Active TSS	Fetal Heart	heart
34	chr12:42981600-42983200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr12:42981600-42984200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:42981600-42984400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
37	chr12:42981600-42985000	Active TSS	Fetal Kidney	kidney
38	chr12:42981800-42982400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:42981800-42982400	Enhancers	Pancreas	Pancrea
40	chr12:42981800-42982400	Enhancers	Placenta Amnion	Placenta Amnion
41	chr12:42981800-42982400	Enhancers	Spleen	Spleen
42	chr12:42981800-42982600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:42981800-42982600	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
44	chr12:42981800-42982800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:42981800-42982800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:42981800-42983200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
47	chr12:42981800-42983200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
48	chr12:42981800-42983200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr12:42981800-42984600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr12:42981800-42984800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum

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