Variant report

Variant	rs34631244
Chromosome Location	chr5:93668238-93668239
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10069664	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11135404	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11953212	0.91[EUR][1000 genomes]
rs11956420	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12109129	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13153203	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13154274	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13154972	0.89[EUR][1000 genomes]
rs13156344	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13156529	0.86[ASN][1000 genomes]
rs13158701	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13160540	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13161726	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13161729	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13174927	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13176314	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13180222	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13183257	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13186130	0.86[ASN][1000 genomes]
rs13187099	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17488764	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35499920	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60335734	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71580775	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71580776	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1023191	chr5:93351646-93947928	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv537808	chr5:93351646-93947928	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv2753025	chr5:93356544-93812844	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv830406	chr5:93514329-93683512	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1027890	chr5:93584978-93873704	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv537809	chr5:93584978-93873704	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
7	nsv882385	chr5:93589609-93697852	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv518161	chr5:93643170-93789309	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv523867	chr5:93643170-93789309	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv4919	chr5:93661579-93681399	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv598950	chr5:93666346-93788579	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93629000-93673600	Weak transcription	Hela-S3	cervix
2	chr5:93644000-93675200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:93653400-93679600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:93661600-93682200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr5:93663600-93670600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:93666000-93670600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:93666000-93672400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr5:93666200-93669600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:93666600-93671600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:93666800-93669800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr5:93666800-93672400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:93666800-93672600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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