Variant report

Variant	rs57750317
Chromosome Location	chr4:98586976-98586977
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1508458	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1508459	1.00[ASN][1000 genomes]
rs1508468	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1508471	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17026779	1.00[ASN][1000 genomes]
rs17026792	1.00[ASN][1000 genomes]
rs17026828	1.00[ASN][1000 genomes]
rs17026847	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17026850	1.00[ASN][1000 genomes]
rs1911789	1.00[ASN][1000 genomes]
rs2078362	1.00[ASN][1000 genomes]
rs2136082	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4324551	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55901496	1.00[ASN][1000 genomes]
rs56880249	1.00[ASN][1000 genomes]
rs56945629	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57593663	1.00[ASN][1000 genomes]
rs58510840	1.00[ASN][1000 genomes]
rs58635658	1.00[ASN][1000 genomes]
rs58864230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58996528	1.00[ASN][1000 genomes]
rs59158891	1.00[ASN][1000 genomes]
rs59172540	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59606962	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60217712	1.00[ASN][1000 genomes]
rs60804385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61171414	1.00[ASN][1000 genomes]
rs61246213	1.00[ASN][1000 genomes]
rs61456001	1.00[ASN][1000 genomes]
rs72889082	1.00[ASN][1000 genomes]
rs72890817	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72890900	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72892812	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7658086	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7692593	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs997657	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879640	chr4:97711707-98697586	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv879643	chr4:98317295-99065480	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv868914	chr4:98416047-98969285	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv594932	chr4:98425582-98595080	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1012612	chr4:98433491-98949873	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3502787	chr4:98459061-98825579	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv3502788	chr4:98459061-98825579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1002098	chr4:98501337-99086320	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv537193	chr4:98501337-99086320	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv529623	chr4:98501338-99460166	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	nsv1010982	chr4:98529206-98841438	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv537194	chr4:98529206-98841438	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv879648	chr4:98547717-99104879	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv1002399	chr4:98562308-98690410	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
15	nsv1000011	chr4:98562308-99101692	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv594933	chr4:98569259-98707046	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS	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	chr4:98586000-98587200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:98586200-98587400	ZNF genes & repeats	Dnd41	blood
3	chr4:98586400-98587000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:98586400-98587200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:98586400-98587400	ZNF genes & repeats	Liver	Liver
6	chr4:98586600-98587400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:98586800-98587200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:98586800-98587200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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