Variant report

Variant	rs66978370
Chromosome Location	chr5:93553633-93553634
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 128 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs10035340	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10036829	0.83[AMR][1000 genomes]
rs10040648	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10044066	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10044139	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10050465	0.83[AMR][1000 genomes]
rs10055340	0.83[AMR][1000 genomes]
rs10055741	0.83[AMR][1000 genomes]
rs10055994	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10057605	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10057814	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10059230	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10060160	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10061080	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10061099	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10062711	0.83[AMR][1000 genomes]
rs10063612	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10064520	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10065056	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10066791	0.83[AMR][1000 genomes]
rs10070390	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10072232	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10072592	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10076052	0.83[AMR][1000 genomes]
rs10076192	0.86[AMR][1000 genomes]
rs10078194	0.80[AMR][1000 genomes]
rs10440717	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10476596	0.86[AMR][1000 genomes]
rs10476597	0.86[AMR][1000 genomes]
rs10476598	0.83[AMR][1000 genomes]
rs10476599	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10476601	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10476602	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10514380	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10514382	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12109629	0.83[AMR][1000 genomes]
rs12152763	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12153501	0.83[AMR][1000 genomes]
rs12153506	0.83[AMR][1000 genomes]
rs12153788	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12187701	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12188453	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12189466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12374432	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12374463	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12374470	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12374488	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12716456	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12716457	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12716460	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12716462	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13153245	0.83[AMR][1000 genomes]
rs13154249	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13156002	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13156865	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13163610	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13165147	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13169675	0.86[AMR][1000 genomes]
rs13170509	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13173952	0.80[AMR][1000 genomes]
rs13174700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13177800	0.86[AMR][1000 genomes]
rs13181660	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13185608	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13185660	0.83[AMR][1000 genomes]
rs13356088	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17083455	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17315943	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17323433	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17374627	0.86[AMR][1000 genomes]
rs17376207	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17376456	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2085960	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs28539612	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28575883	0.83[AMR][1000 genomes]
rs28633397	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28637444	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34013242	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34068652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34138834	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34184666	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34384674	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs34595581	0.83[AMR][1000 genomes]
rs34673483	0.80[AMR][1000 genomes]
rs34717672	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34756085	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34854140	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35075119	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35184505	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35747258	0.83[AMR][1000 genomes]
rs36026719	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36091096	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3940842	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4547912	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55832164	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56046246	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56373208	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58734583	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59472588	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61132622	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66696214	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67066109	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6867042	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71641007	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72788365	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7701011	0.80[AMR][1000 genomes]
rs7701974	0.83[AMR][1000 genomes]
rs7702521	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7718842	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7728736	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7734897	0.80[AMR][1000 genomes]
rs7736620	0.80[AMR][1000 genomes]
rs9314092	0.83[AMR][1000 genomes]
rs9314095	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9314096	0.84[AMR][1000 genomes]
rs9314099	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9314100	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9314102	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9885329	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9968691	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9968749	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[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	nsv532196	chr5:92933949-93573527	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1023191	chr5:93351646-93947928	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv537808	chr5:93351646-93947928	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv2753025	chr5:93356544-93812844	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv530552	chr5:93416111-93588509	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1024014	chr5:93460441-93655609	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv830406	chr5:93514329-93683512	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93545600-93554200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:93546000-93555000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:93548600-93557400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:93549600-93557200	Weak transcription	Aorta	Aorta
5	chr5:93552000-93554800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:93552200-93553800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr5:93552200-93553800	Enhancers	Osteobl	bone
8	chr5:93552200-93554000	Enhancers	NH-A	brain
9	chr5:93552200-93554200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:93552200-93554200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr5:93552200-93554800	Enhancers	HSMMtube	muscle
12	chr5:93552200-93555200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr5:93552200-93555400	Enhancers	HSMM	muscle
14	chr5:93552400-93554600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:93552800-93553800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:93552800-93554000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:93552800-93556800	Weak transcription	Dnd41	blood
18	chr5:93553000-93554800	Enhancers	NHDF-Ad	bronchial
19	chr5:93553200-93576600	Weak transcription	Hela-S3	cervix
20	chr5:93553400-93554800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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