Variant report

Variant	rs28444599
Chromosome Location	chr14:32995688-32995689
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10132525	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10133509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10138956	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10142787	1.00[AMR][1000 genomes]
rs10143444	1.00[AMR][1000 genomes]
rs10145507	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10148871	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10149757	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17099366	1.00[AMR][1000 genomes]
rs28431292	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28834510	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28871152	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58081373	1.00[AMR][1000 genomes]
rs7157153	1.00[AMR][1000 genomes]
rs73264819	1.00[AMR][1000 genomes]
rs73264836	1.00[AMR][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	esv2758352	chr14:32858480-33016442	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv2759978	chr14:32858480-33016442	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1045035	chr14:32986003-33543227	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv542021	chr14:32986003-33543227	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription 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	7 gene(s)	inside rSNPs	diseases
5	nsv1235	chr14:32986527-33011524	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32980400-33002000	Weak transcription	Aorta	Aorta
2	chr14:32983600-33006000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr14:32984400-33004800	Weak transcription	Fetal Muscle Leg	muscle
4	chr14:32985800-32997400	Weak transcription	Fetal Heart	heart
5	chr14:32989600-32999600	Weak transcription	Fetal Brain Male	brain
6	chr14:32994200-32995800	Weak transcription	HSMMtube	muscle
7	chr14:32994200-32999200	Weak transcription	Left Ventricle	heart
8	chr14:32994200-32999400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr14:32994200-32999400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr14:32994200-33015000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr14:32994800-33011600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:32995000-32999600	Weak transcription	Brain Angular Gyrus	brain
13	chr14:32995000-32999600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr14:32995000-33001400	Weak transcription	Fetal Brain Female	brain
15	chr14:32995000-33004600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr14:32995200-32999600	Weak transcription	Brain Substantia Nigra	brain
17	chr14:32995200-33002400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr14:32995600-32995800	Enhancers	Right Atrium	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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