Variant report

Variant	rs28750761
Chromosome Location	chr4:79046325-79046326
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10008931	0.87[EUR][1000 genomes]
rs10018454	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10023589	0.83[AMR][1000 genomes]
rs10023665	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10023697	0.90[EUR][1000 genomes]
rs10025769	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10029115	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10029734	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10030639	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10033428	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10213063	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10213609	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10856998	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11098038	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13106100	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13106755	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13127746	0.91[ASN][1000 genomes]
rs13130161	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13141573	0.84[AMR][1000 genomes]
rs13144972	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13150598	0.90[EUR][1000 genomes]
rs17002930	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1878438	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1878439	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28479828	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28583476	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28635454	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2867006	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2867008	0.90[EUR][1000 genomes]
rs28677913	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28707182	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28796316	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28822779	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28854287	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2903453	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4156	0.90[EUR][1000 genomes]
rs4345212	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4367202	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4388115	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4410553	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4423899	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4423900	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4443313	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4561952	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4583783	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4610363	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4634250	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55794249	0.87[ASN][1000 genomes]
rs56006343	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56299187	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58969863	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6820400	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6822247	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6842152	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6847174	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6856815	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6857278	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6857527	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71609399	0.81[EUR][1000 genomes]
rs72654653	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7437861	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7441634	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7666444	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7672583	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7684543	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7689960	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7698326	0.90[EUR][1000 genomes]
rs9307335	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9307336	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9307337	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9307338	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9307339	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9307340	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9307352	0.90[EUR][1000 genomes]
rs9991356	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9993527	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9994298	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9994422	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9995229	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9998932	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9999763	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv520625	chr4:79002655-79071788	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv525530	chr4:79024524-79266563	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79039600-79046800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:79039800-79046800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr4:79039800-79046800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:79039800-79046800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:79039800-79047600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:79042400-79047200	Weak transcription	Right Atrium	heart
7	chr4:79042600-79052800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:79042800-79052600	Weak transcription	Left Ventricle	heart
9	chr4:79043000-79047200	Weak transcription	Fetal Intestine Small	intestine
10	chr4:79043000-79052600	Weak transcription	Psoas Muscle	Psoas
11	chr4:79043200-79046600	Weak transcription	HepG2	liver
12	chr4:79043200-79046800	Weak transcription	Fetal Heart	heart
13	chr4:79044400-79046600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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