Variant report

Variant	rs1273783
Chromosome Location	chr14:66477733-66477734
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10130914	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1147435	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1147437	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1147438	0.89[ASN][1000 genomes]
rs1147441	0.83[EUR][1000 genomes]
rs1147444	0.82[EUR][1000 genomes]
rs12586436	0.87[ASN][1000 genomes]
rs1273782	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1273784	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1273785	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1808975	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1815532	0.80[EUR][1000 genomes]
rs1959360	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs894920	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs894921	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
2	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers 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	55 gene(s)	inside rSNPs	diseases
3	nsv817409	chr14:66220075-66990168	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv564953	chr14:66287921-67046960	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv1050485	chr14:66308283-67109270	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv530775	chr14:66316836-67079049	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
7	nsv530793	chr14:66317036-67078908	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	nsv1046455	chr14:66345369-66848234	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	nsv1043864	chr14:66372458-66845503	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv917338	chr14:66376591-66841403	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	nsv974350	chr14:66475804-66480245	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66470600-66478400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr14:66475400-66479000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr14:66476200-66478000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr14:66476200-66482200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr14:66476400-66477800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr14:66477000-66478800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:66477200-66477800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr14:66477200-66477800	Enhancers	H9 Cell Line	embryonic stem cell
9	chr14:66477200-66478200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr14:66477400-66478000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr14:66477400-66478000	Enhancers	HepG2	liver
12	chr14:66477400-66479000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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