Variant report

Variant	rs9995229
Chromosome Location	chr4:79042952-79042953
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10008931	0.89[EUR][1000 genomes]
rs10018454	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10023589	0.83[AMR][1000 genomes]
rs10023665	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10023697	0.92[EUR][1000 genomes]
rs10025769	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10029115	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10029734	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10030639	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10033428	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10213063	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10213609	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10856998	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11098038	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13106100	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13106755	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13127746	0.91[ASN][1000 genomes]
rs13130161	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13141573	0.84[AMR][1000 genomes]
rs13144972	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13150598	0.92[EUR][1000 genomes]
rs17002930	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1878438	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1878439	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28479828	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28583476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28635454	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2867006	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2867008	0.92[EUR][1000 genomes]
rs28677913	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28707182	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28750761	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28796316	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28822779	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28854287	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2903453	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4156	0.92[EUR][1000 genomes]
rs4345212	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4367202	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4388115	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4410553	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4423899	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4423900	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4443313	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4561952	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4583783	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4610363	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4634250	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55794249	0.87[ASN][1000 genomes]
rs56006343	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56299187	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs58969863	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6820400	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6822247	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6842152	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6847174	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6856815	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6857278	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6857527	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71609399	0.80[EUR][1000 genomes]
rs72654653	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7437861	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7441634	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7666444	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7672583	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7684543	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7689960	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7698326	0.92[EUR][1000 genomes]
rs9307335	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9307336	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9307337	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9307338	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9307339	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9307340	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9307352	0.92[EUR][1000 genomes]
rs9991356	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9993527	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9994298	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9994422	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9998932	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9999763	0.86[AMR][1000 genomes];0.92[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9995229	FRAS1	cis	parietal	SCAN

Chromatin state (count:17 , 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	chr4:79040800-79043000	Enhancers	Psoas Muscle	Psoas
7	chr4:79040800-79043200	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr4:79040800-79043200	Enhancers	HSMMtube	muscle
9	chr4:79041000-79043000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:79041600-79043000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr4:79041600-79043200	Enhancers	HepG2	liver
12	chr4:79042000-79043000	Enhancers	Fetal Intestine Small	intestine
13	chr4:79042400-79047200	Weak transcription	Right Atrium	heart
14	chr4:79042600-79052800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:79042800-79043000	Enhancers	Aorta	Aorta
16	chr4:79042800-79043200	Flanking Active TSS	Fetal Heart	heart
17	chr4:79042800-79052600	Weak transcription	Left Ventricle	heart

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