Variant report

Variant	rs12378036
Chromosome Location	chr9:14547621-14547622
allele	C/T
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:11)

rs_ID	r²[population]
rs10961566	1.00[EUR][1000 genomes]
rs10961567	1.00[EUR][1000 genomes]
rs10961574	0.92[EUR][1000 genomes]
rs10961577	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10961579	1.00[EUR][1000 genomes]
rs10961589	1.00[EUR][1000 genomes]
rs10961624	1.00[AFR][1000 genomes]
rs10961629	1.00[AFR][1000 genomes]
rs12379617	1.00[AFR][1000 genomes]
rs72700578	1.00[AFR][1000 genomes]
rs72702974	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv915804	chr9:14182608-14903050	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv831517	chr9:14512924-14738206	Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv892604	chr9:14519301-14559910	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv613637	chr9:14524438-15011915	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv613638	chr9:14539758-14550138	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv613639	chr9:14539758-14552236	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3362157	chr9:14542189-14791977	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr9:14546200-14547800	Enhancers	HepG2	liver
2	chr9:14546200-14548400	Enhancers	H1 Cell Line	embryonic stem cell
3	chr9:14546400-14548400	Enhancers	H9 Cell Line	embryonic stem cell
4	chr9:14546600-14548000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr9:14546600-14548200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr9:14546600-14548400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr9:14546800-14548000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr9:14546800-14548400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr9:14547600-14547800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:14547600-14547800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:14547600-14548000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr9:14547600-14548000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr9:14547600-14548000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr9:14547600-14548000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr9:14547600-14548200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr9:14547600-14548200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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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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