Variant report

Variant	rs4958980
Chromosome Location	chr5:177357964-177357965
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10464066	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs10464113	0.86[AFR][1000 genomes]
rs10464116	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10794706	0.84[EUR][1000 genomes]
rs11249783	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11738026	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11740972	0.90[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11742117	0.84[EUR][1000 genomes]
rs11742168	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12186510	0.84[EUR][1000 genomes]
rs12187456	0.84[EUR][1000 genomes]
rs13157329	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13157464	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13157845	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13190413	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4077204	0.84[EUR][1000 genomes]
rs4077205	0.84[EUR][1000 genomes]
rs4246052	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4318803	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4327608	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4428434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes]
rs4958942	0.88[AFR][1000 genomes]
rs4958945	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4958946	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4958947	0.85[CEU][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4958948	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4958982	0.94[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4958983	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4958984	0.83[AFR][1000 genomes]
rs4958992	0.81[ASN][1000 genomes]
rs4958995	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4958997	0.82[AMR][1000 genomes]
rs4958999	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4959002	0.84[EUR][1000 genomes]
rs4959003	0.83[EUR][1000 genomes]
rs60355061	0.81[EUR][1000 genomes]
rs62397831	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62397832	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6601187	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6601188	0.96[AFR][1000 genomes]
rs6861547	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6864280	0.91[AFR][1000 genomes]
rs6875636	0.93[AFR][1000 genomes]
rs6880829	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6881018	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6885392	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6891157	0.81[AFR][1000 genomes]
rs6896989	0.85[AFR][1000 genomes]
rs6898992	0.83[AFR][1000 genomes]
rs71591890	0.83[AMR][1000 genomes]
rs7705931	0.82[ASW][hapmap];0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.94[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7706237	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7706255	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7718261	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7730346	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7733233	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9764397	0.85[AFR][1000 genomes]
rs9764398	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9765519	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024444	chr5:176751921-177427715	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	142 gene(s)	inside rSNPs	diseases
2	esv2752795	chr5:176898619-177488281	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv1033211	chr5:177133646-177383386	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1030383	chr5:177310325-177571254	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv883184	chr5:177311043-177488281	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv968281	chr5:177317594-177358347	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv883185	chr5:177357964-177401509	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177356800-177358000	Enhancers	Pancreas	Pancrea
2	chr5:177356800-177358800	Enhancers	Ovary	ovary
3	chr5:177357000-177358000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:177357000-177358000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr5:177357000-177358000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:177357000-177358000	Enhancers	Liver	Liver
7	chr5:177357000-177358000	Enhancers	Fetal Heart	heart
8	chr5:177357000-177358200	Enhancers	Fetal Muscle Trunk	muscle
9	chr5:177357200-177358000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr5:177357200-177358000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr5:177357200-177358000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:177357200-177358000	Enhancers	Stomach Mucosa	stomach
13	chr5:177357400-177358000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:177357400-177358000	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr5:177357400-177365400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:177357800-177358200	Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr5:177357800-177365600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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