Variant report

Variant	rs12890485
Chromosome Location	chr14:33225677-33225678
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10143512	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17091663	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2300839	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2300840	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2300843	0.95[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs35654417	0.95[ASN][1000 genomes]
rs35801270	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7159774	0.91[CHB][hapmap]
rs8012632	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs977966	0.95[CHB][hapmap];0.81[JPT][hapmap];0.91[ASN][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	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
2	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
3	nsv832765	chr14:33188170-33367348	Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr14:33202600-33228800	Weak transcription	Brain Angular Gyrus	brain
2	chr14:33205200-33254600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr14:33207600-33225800	Weak transcription	HSMMtube	muscle
4	chr14:33208200-33225800	Weak transcription	Fetal Heart	heart
5	chr14:33224800-33226200	Enhancers	Left Ventricle	heart
6	chr14:33225200-33226000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:33225200-33226200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:33225200-33226200	Enhancers	Right Ventricle	heart
9	chr14:33225200-33257600	Weak transcription	Fetal Muscle Leg	muscle
10	chr14:33225400-33226600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr14:33225400-33226800	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr14:33225400-33242800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr14:33225600-33225800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
14	chr14:33225600-33226000	Genic enhancers	Aorta	Aorta
15	chr14:33225600-33226000	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr14:33225600-33227000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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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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