Variant report

Variant	rs12894927
Chromosome Location	chr14:97494403-97494404
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10133922	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10148745	0.81[EUR][1000 genomes]
rs10873478	0.82[EUR][1000 genomes]
rs12437229	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12883544	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12884656	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2064486	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4900360	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4905575	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7156416	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs742880	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs742883	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8015145	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs856247	0.80[AFR][1000 genomes];0.87[ASN][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	nsv1044202	chr14:97155291-97683983	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv542179	chr14:97155291-97683983	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv948620	chr14:97334444-98133191	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv832867	chr14:97365919-97541763	Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1048462	chr14:97421360-97804598	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr14:97489200-97494600	Enhancers	H1 Cell Line	embryonic stem cell
2	chr14:97489600-97495200	Enhancers	H9 Cell Line	embryonic stem cell
3	chr14:97490000-97495200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:97490600-97495200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:97491600-97494600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:97491800-97494800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:97492400-97494800	Weak transcription	Fetal Brain Female	brain
8	chr14:97492600-97494600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr14:97492600-97496000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr14:97492800-97494800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:97493000-97494600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr14:97494200-97495400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr14:97494200-97495600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
14	chr14:97494400-97495000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr14:97494400-97495200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:97494400-97499200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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