Variant report

Variant	rs2970790
Chromosome Location	chr12:22269333-22269334
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2541298	1.00[AMR][1000 genomes]
rs2909059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2909066	1.00[AMR][1000 genomes]
rs2909076	1.00[AMR][1000 genomes]
rs2909077	1.00[AMR][1000 genomes]
rs2909078	1.00[AMR][1000 genomes]
rs2909079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2909084	1.00[AMR][1000 genomes]
rs2955496	1.00[YRI][hapmap]
rs2955497	1.00[AMR][1000 genomes]
rs2970781	1.00[AMR][1000 genomes]
rs2970782	1.00[AMR][1000 genomes]
rs2970783	1.00[AMR][1000 genomes]
rs71530947	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051073	chr12:21910875-22271209	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2758298	chr12:22140834-22339299	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2759883	chr12:22140834-22736907	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22256000-22271000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:22268400-22269600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:22268400-22269600	Enhancers	Fetal Brain Male	brain
4	chr12:22268600-22272000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:22268800-22269400	Enhancers	Fetal Muscle Trunk	muscle
6	chr12:22268800-22269400	Enhancers	Fetal Muscle Leg	muscle
7	chr12:22268800-22269400	Enhancers	Right Ventricle	heart
8	chr12:22269000-22269600	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr12:22269200-22269400	Active TSS	Brain Hippocampus Middle	brain
10	chr12:22269200-22269400	Enhancers	Fetal Brain Female	brain
11	chr12:22269200-22269400	Bivalent Enhancer	Gastric	stomach
12	chr12:22269200-22269600	Flanking Active TSS	Left Ventricle	heart
13	chr12:22269200-22270200	Enhancers	Fetal Heart	heart
14	chr12:22269200-22270400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr12:22269200-22271000	Weak transcription	Brain Anterior Caudate	brain
16	chr12:22269200-22272400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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