Variant report

Variant	rs1243623
Chromosome Location	chr14:21045856-21045857
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:7)

rs_ID	r²[population]
rs1243622	0.86[EUR][1000 genomes]
rs1243626	0.86[EUR][1000 genomes]
rs1243631	0.84[EUR][1000 genomes]
rs1268878	0.86[EUR][1000 genomes]
rs1271873	0.86[EUR][1000 genomes]
rs1652060	0.86[EUR][1000 genomes]
rs1756399	0.84[EUR][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	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
4	nsv901468	chr14:20997221-21149785	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1051489	chr14:21026592-21214763	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	nsv901469	chr14:21043283-21070264	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21026800-21047000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:21037800-21046000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr14:21040600-21046800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:21045200-21046200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr14:21045400-21046000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr14:21045400-21046200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr14:21045600-21046400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr14:21045600-21046800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr14:21045800-21046000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr14:21045800-21047000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr14:21045800-21047800	Enhancers	H9 Cell Line	embryonic stem cell
12	chr14:21045800-21049000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:21045800-21049200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:21045800-21049600	Enhancers	K562	blood

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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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