Variant report

Variant	rs2955482
Chromosome Location	chr12:24690628-24690629
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10743510	1.00[EUR][1000 genomes]
rs10771101	1.00[EUR][1000 genomes]
rs10771102	1.00[EUR][1000 genomes]
rs1115525	1.00[EUR][1000 genomes]
rs1386641	1.00[EUR][1000 genomes]
rs1386643	1.00[EUR][1000 genomes]
rs1487652	1.00[EUR][1000 genomes]
rs2354628	1.00[EUR][1000 genomes]
rs2955480	1.00[EUR][1000 genomes]
rs2955481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2955483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2970414	1.00[EUR][1000 genomes]
rs2970416	1.00[EUR][1000 genomes]
rs3110019	1.00[EUR][1000 genomes]
rs3110020	1.00[EUR][1000 genomes]
rs3112129	1.00[EUR][1000 genomes]
rs3112130	1.00[EUR][1000 genomes]
rs3112131	1.00[EUR][1000 genomes]
rs4029339	1.00[EUR][1000 genomes]
rs4348994	1.00[EUR][1000 genomes]
rs4963585	1.00[EUR][1000 genomes]
rs6487402	1.00[EUR][1000 genomes]
rs7136885	1.00[EUR][1000 genomes]
rs936901	1.00[EUR][1000 genomes]
rs962728	1.00[EUR][1000 genomes]
rs997025	1.00[EUR][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	esv2422312	chr12:24519392-25221686	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv832352	chr12:24534823-24736540	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1046463	chr12:24538432-24916851	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv898920	chr12:24648863-25147192	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv915555	chr12:24666481-24952013	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv645	chr12:24683914-24723421	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:24686800-24690800	Enhancers	Colon Smooth Muscle	Colon
2	chr12:24686800-24691200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:24686800-24691400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr12:24687600-24691400	Enhancers	Fetal Heart	heart
5	chr12:24687800-24691000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:24688200-24691000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:24688600-24691400	Weak transcription	NHDF-Ad	bronchial
8	chr12:24688600-24693400	Weak transcription	Fetal Brain Male	brain
9	chr12:24688800-24693800	Weak transcription	Fetal Brain Female	brain
10	chr12:24689000-24693800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:24689200-24703800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:24689400-24691400	Active TSS	Aorta	Aorta
13	chr12:24689600-24691200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:24689600-24693000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:24689800-24690800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:24689800-24690800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:24689800-24690800	Active TSS	Right Atrium	heart
18	chr12:24689800-24691000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:24689800-24693400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:24690000-24693000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr12:24690000-24694200	Enhancers	Liver	Liver
22	chr12:24690200-24690800	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr12:24690200-24690800	Enhancers	Dnd41	blood
24	chr12:24690200-24692200	Flanking Active TSS	NHLF	lung
25	chr12:24690400-24690800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:24690400-24690800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:24690400-24690800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
28	chr12:24690400-24690800	Flanking Active TSS	Ovary	ovary
29	chr12:24690400-24691000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:24690400-24691200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:24690400-24691200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:24690400-24691200	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr12:24690400-24691200	Flanking Active TSS	Fetal Lung	lung
34	chr12:24690400-24691400	Enhancers	Brain Anterior Caudate	brain
35	chr12:24690600-24690800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr12:24690600-24690800	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr12:24690600-24691000	Active TSS	Brain Cingulate Gyrus	brain
38	chr12:24690600-24691200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr12:24690600-24691200	Enhancers	Fetal Stomach	stomach
40	chr12:24690600-24691400	Enhancers	Muscle Satellite Cultured Cells	--
41	chr12:24690600-24691400	Enhancers	Fetal Kidney	kidney
42	chr12:24690600-24691600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:24690600-24691800	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr12:24690600-24695000	Weak transcription	Small Intestine	intestine

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