Variant report

Variant	rs12386425
Chromosome Location	chr4:93310055-93310056
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10004386	1.00[AMR][1000 genomes]
rs10011832	1.00[AMR][1000 genomes]
rs10016543	1.00[AMR][1000 genomes]
rs10026025	1.00[AMR][1000 genomes]
rs10026721	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11097336	1.00[AMR][1000 genomes]
rs28374338	1.00[AMR][1000 genomes]
rs28378105	1.00[AMR][1000 genomes]
rs28448418	1.00[AMR][1000 genomes]
rs28456034	1.00[AMR][1000 genomes]
rs28457845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28490501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28491053	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28498071	1.00[AMR][1000 genomes]
rs28505400	1.00[AMR][1000 genomes]
rs28520229	1.00[AMR][1000 genomes]
rs28566469	1.00[AMR][1000 genomes]
rs28572563	1.00[AMR][1000 genomes]
rs28610963	1.00[AMR][1000 genomes]
rs28629188	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28660485	1.00[AMR][1000 genomes]
rs28689931	1.00[AMR][1000 genomes]
rs28814936	1.00[AMR][1000 genomes]
rs6811045	1.00[AMR][1000 genomes]
rs6815669	1.00[AMR][1000 genomes]
rs7653951	1.00[AMR][1000 genomes]
rs7666831	1.00[AMR][1000 genomes]
rs9990696	1.00[AMR][1000 genomes]
rs9994881	1.00[AMR][1000 genomes]
rs9995902	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530154	chr4:92396539-93359983	Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1009960	chr4:92747531-93389054	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv470056	chr4:92837584-93322977	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv461587	chr4:92837584-93376231	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv594866	chr4:92837584-93376231	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv948712	chr4:93007985-93740409	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv830007	chr4:93101912-93317656	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv594868	chr4:93190198-93391251	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv998246	chr4:93198845-93350325	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv1000700	chr4:93270083-93425831	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv537182	chr4:93270083-93425831	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv997925	chr4:93270083-93464386	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	nsv537183	chr4:93270083-93464386	Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93303000-93317200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr4:93304400-93328200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr4:93308000-93310200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr4:93308200-93311800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr4:93308800-93310600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr4:93309600-93310800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr4:93309800-93310800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr4:93309800-93323800	Weak transcription	H9 Cell Line	embryonic stem cell

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