Variant report

Variant	rs498491
Chromosome Location	chr5:89881445-89881446
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:89878566..89881617-chr5:89882501..89884794,5	K562	blood:

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10036980	0.92[CHB][hapmap];0.92[JPT][hapmap]
rs10043836	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs10058765	1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs10060427	1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs10062714	1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs10062924	1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs10067181	0.92[JPT][hapmap]
rs10068473	0.80[CHB][hapmap];0.92[JPT][hapmap]
rs10072105	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1028191	1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs1028192	1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs1033290	1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs10462342	0.85[JPT][hapmap]
rs10473936	0.90[ASN][1000 genomes]
rs10514327	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs10514328	0.86[ASN][1000 genomes]
rs10514333	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs10942597	0.86[CHB][hapmap];0.92[JPT][hapmap]
rs10942605	0.92[JPT][hapmap]
rs10942606	0.92[CHB][hapmap];0.92[JPT][hapmap]
rs1160121	0.92[JPT][hapmap]
rs11741740	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12187830	0.81[ASN][1000 genomes]
rs12188928	0.92[JPT][hapmap]
rs12516985	1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs12655180	0.86[CHB][hapmap]
rs13185955	0.86[CHB][hapmap];0.92[JPT][hapmap]
rs1533603	0.93[CHB][hapmap];0.92[JPT][hapmap]
rs1673378	0.87[CHB][hapmap];0.92[JPT][hapmap]
rs1673379	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16868957	1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs1700510	1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs1700511	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1878878	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs1993474	0.92[JPT][hapmap]
rs2176624	0.93[CHB][hapmap];0.92[JPT][hapmap]
rs2222242	0.93[CHB][hapmap];0.92[JPT][hapmap]
rs2366771	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2366773	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2366774	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2366777	1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[YRI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28517617	0.81[ASN][1000 genomes]
rs28550273	0.84[ASN][1000 genomes]
rs3805483	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs3927265	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs4379236	0.84[ASN][1000 genomes]
rs4574581	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs474800	0.92[ASN][1000 genomes]
rs490812	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs491241	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4916681	1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs4916682	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4916684	1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs4916686	0.93[CHB][hapmap];0.92[JPT][hapmap]
rs4916813	1.00[CHB][hapmap];0.92[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4916814	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4916815	0.92[JPT][hapmap]
rs499148	0.86[CHB][hapmap];0.92[JPT][hapmap]
rs501640	0.89[ASN][1000 genomes]
rs502596	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs552314	0.92[ASN][1000 genomes]
rs558809	0.80[ASN][1000 genomes]
rs587818	0.86[ASN][1000 genomes]
rs603015	0.86[CHB][hapmap];0.92[JPT][hapmap]
rs617379	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs618355	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs623761	0.92[ASN][1000 genomes]
rs637442	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6452906	0.92[CHB][hapmap];0.92[JPT][hapmap]
rs645652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs648430	0.86[CHB][hapmap];0.92[JPT][hapmap]
rs666659	0.90[ASN][1000 genomes]
rs6863710	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs6870337	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6878917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6881412	0.92[CHB][hapmap];0.92[JPT][hapmap]
rs6883872	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6888355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs688956	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs688960	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6891275	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6897910	0.84[JPT][hapmap]
rs6898209	1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7703588	0.85[CHB][hapmap];0.92[JPT][hapmap]
rs7721198	0.92[CHB][hapmap];0.91[JPT][hapmap]
rs7723259	0.92[CHB][hapmap];0.92[JPT][hapmap]
rs7724806	0.92[CHB][hapmap];0.92[JPT][hapmap]
rs7726624	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7729703	1.00[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs7732169	0.92[JPT][hapmap]
rs9283788	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9293550	0.93[CHB][hapmap];0.92[JPT][hapmap]
rs963866	1.00[CHB][hapmap];0.92[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs977906	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs9790907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021142	chr5:89102893-89897826	Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv537804	chr5:89102893-89897826	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv432750	chr5:89410113-90137144	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv432751	chr5:89457044-90090444	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
6	nsv882365	chr5:89770768-89882618	Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv882366	chr5:89826726-89894564	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv933668	chr5:89854253-89999672	Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89859400-89884200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:89867400-89889200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:89868800-89884400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:89872000-89881600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:89880000-89881600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:89881000-89882000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr5:89881200-89881800	Enhancers	GM12878-XiMat	blood
8	chr5:89881200-89883000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:89881400-89882000	Enhancers	K562	blood
10	chr5:89881400-89882600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:89881400-89882600	Enhancers	HUES6 Cell Line	embryonic stem cell

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