Variant report

Variant	rs2955481
Chromosome Location	chr12:24691366-24691367
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2955482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2955483	1.00[AFR][1000 genomes];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	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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:24686800-24691400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr12:24687600-24691400	Enhancers	Fetal Heart	heart
3	chr12:24688600-24691400	Weak transcription	NHDF-Ad	bronchial
4	chr12:24688600-24693400	Weak transcription	Fetal Brain Male	brain
5	chr12:24688800-24693800	Weak transcription	Fetal Brain Female	brain
6	chr12:24689000-24693800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:24689200-24703800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:24689400-24691400	Active TSS	Aorta	Aorta
9	chr12:24689600-24693000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:24689800-24693400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:24690000-24693000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:24690000-24694200	Enhancers	Liver	Liver
13	chr12:24690200-24692200	Flanking Active TSS	NHLF	lung
14	chr12:24690400-24691400	Enhancers	Brain Anterior Caudate	brain
15	chr12:24690600-24691400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr12:24690600-24691400	Enhancers	Fetal Kidney	kidney
17	chr12:24690600-24691600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:24690600-24691800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr12:24690600-24695000	Weak transcription	Small Intestine	intestine
20	chr12:24690800-24691600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:24690800-24691600	Active TSS	Ovary	ovary
22	chr12:24690800-24691600	Active TSS	Stomach Smooth Muscle	stomach
23	chr12:24690800-24692000	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:24691000-24691400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr12:24691000-24694000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr12:24691000-24696800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:24691200-24691400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:24691200-24691400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:24691200-24691600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:24691200-24691600	Enhancers	Adipose Nuclei	Adipose
31	chr12:24691200-24692800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:24691200-24693600	Enhancers	Fetal Lung	lung
33	chr12:24691200-24693600	Weak transcription	Fetal Stomach	stomach

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