Variant report

Variant	rs12643954
Chromosome Location	chr4:93398759-93398760
allele	C/T
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:31)

rs_ID	r²[population]
rs10000919	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10011953	0.84[ASN][1000 genomes]
rs11097337	0.84[ASN][1000 genomes]
rs11930169	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11942220	0.82[ASN][1000 genomes]
rs11942235	0.82[ASN][1000 genomes]
rs11942274	0.82[ASN][1000 genomes]
rs11945497	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12650010	0.82[ASN][1000 genomes]
rs28540041	0.83[ASN][1000 genomes]
rs2870626	0.94[EUR][1000 genomes]
rs35049432	0.81[ASN][1000 genomes]
rs35400056	0.82[EUR][1000 genomes]
rs36039865	0.83[ASN][1000 genomes]
rs4527446	0.94[EUR][1000 genomes]
rs57390091	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62311046	0.81[ASN][1000 genomes]
rs62312219	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6532370	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6835375	0.93[EUR][1000 genomes]
rs6848180	0.81[ASN][1000 genomes]
rs7658053	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7668752	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7674480	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7676323	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7677007	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7678325	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7681461	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7681849	0.84[EUR][1000 genomes]
rs7683035	0.94[EUR][1000 genomes]
rs9993173	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv1005500	chr4:93359923-93590452	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv537184	chr4:93359923-93590452	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv1001759	chr4:93368860-93414503	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv879605	chr4:93376231-93740409	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1006957	chr4:93389054-93511561	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv879606	chr4:93391251-93479275	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv1013199	chr4:93395509-93511052	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93377000-93403400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:93392600-93399600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:93394400-93399400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr4:93395400-93399800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:93396200-93402200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr4:93396600-93400200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr4:93397400-93398800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr4:93397400-93401400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:93397400-93402200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr4:93398000-93398800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr4:93398400-93398800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr4:93398400-93398800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr4:93398600-93402000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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