Variant report

Variant	rs73054838
Chromosome Location	chr5:17368262-17368263
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16869675	1.00[EUR][1000 genomes]
rs58489807	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59036563	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61208414	1.00[EUR][1000 genomes]
rs6892415	1.00[EUR][1000 genomes]
rs73052868	1.00[EUR][1000 genomes]
rs73052876	1.00[EUR][1000 genomes]
rs73054812	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73054826	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73054833	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73054835	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73054842	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7711635	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7731019	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029959	chr5:17133214-17455995	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv461988	chr5:17296342-17484038	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv597313	chr5:17296342-17484038	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv830219	chr5:17325802-17518914	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	esv1793466	chr5:17364700-17721569	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
6	esv1801170	chr5:17364700-17721569	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
7	esv1820519	chr5:17364700-17721569	Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
8	esv1824831	chr5:17364700-17721569	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
9	esv1827359	chr5:17364700-17721569	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
10	esv1828062	chr5:17364700-17721569	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
11	nsv427713	chr5:17364700-17721569	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
12	nsv428464	chr5:17364700-17721569	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
13	esv2757986	chr5:17364700-17936404	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
14	esv2759328	chr5:17364700-17936404	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17362200-17375200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:17366000-17374600	Weak transcription	Fetal Brain Female	brain
3	chr5:17366400-17368600	Enhancers	Brain Germinal Matrix	brain
4	chr5:17366400-17373600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:17366800-17368400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:17367000-17368400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr5:17367000-17368400	Enhancers	H9 Cell Line	embryonic stem cell
8	chr5:17367000-17368400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:17367000-17368600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
10	chr5:17367200-17368400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr5:17367200-17368400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr5:17367200-17368400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:17367200-17373600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:17367600-17368400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr5:17367800-17370200	Strong transcription	A549	lung
16	chr5:17368000-17368400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:17368000-17368600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr5:17368000-17369400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr5:17368000-17373400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr5:17368200-17368400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr5:17368200-17368400	ZNF genes & repeats	Hela-S3	cervix

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