Variant report

Variant	rs4700410
Chromosome Location	chr5:60483913-60483914
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:60483051..60485415-chr5:60488357..60490268,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10514906	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs124898	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs158696	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs158697	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs158699	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs158700	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs158918	0.82[ASN][1000 genomes]
rs158937	0.82[ASN][1000 genomes]
rs159357	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs159358	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs159371	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs159374	0.85[ASN][1000 genomes]
rs159375	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs159376	0.85[ASN][1000 genomes]
rs159377	0.85[ASN][1000 genomes]
rs159378	0.85[ASN][1000 genomes]
rs159380	0.85[ASN][1000 genomes]
rs162243	0.82[ASN][1000 genomes]
rs162246	0.82[ASN][1000 genomes]
rs16878547	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16878548	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs182410	0.85[ASN][1000 genomes]
rs1989653	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2270822	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs248685	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2545475	0.85[ASN][1000 genomes]
rs2545478	0.81[ASN][1000 genomes]
rs2545493	0.81[ASN][1000 genomes]
rs2545503	0.85[ASN][1000 genomes]
rs256375	0.85[ASN][1000 genomes]
rs256376	0.85[ASN][1000 genomes]
rs2694518	0.83[ASN][1000 genomes]
rs2694528	0.85[ASN][1000 genomes]
rs290511	0.85[ASN][1000 genomes]
rs295522	1.00[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs295524	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs295531	0.85[ASN][1000 genomes]
rs295551	0.85[ASN][1000 genomes]
rs295559	0.85[ASN][1000 genomes]
rs295560	0.85[ASN][1000 genomes]
rs295561	0.85[ASN][1000 genomes]
rs295563	0.85[ASN][1000 genomes]
rs295564	0.85[ASN][1000 genomes]
rs295566	0.83[ASN][1000 genomes]
rs295569	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs295573	0.85[ASN][1000 genomes]
rs295578	0.85[ASN][1000 genomes]
rs295579	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34610	0.85[ASN][1000 genomes]
rs34614	0.85[ASN][1000 genomes]
rs34621	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs34623	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs34624	1.00[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs34636	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs34637	0.85[ASN][1000 genomes]
rs34643	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs34644	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs39661	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4458537	1.00[YRI][hapmap]
rs59292447	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61288496	0.93[AFR][1000 genomes]
rs61554378	0.92[AFR][1000 genomes]
rs6862622	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6863749	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6866414	0.93[AFR][1000 genomes]
rs6869073	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6869454	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6892223	0.92[AFR][1000 genomes]
rs6893210	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7446462	0.90[AFR][1000 genomes]
rs764066	0.92[AFR][1000 genomes]
rs764067	0.92[AFR][1000 genomes]
rs7712364	0.93[CEU][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7718028	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7723754	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs810883	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs810884	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9291702	0.85[ASN][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	nsv949662	chr5:60047974-60488379	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	42 gene(s)	inside rSNPs	diseases
2	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
4	esv1845980	chr5:60481408-60511495	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	2 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	chr5:60468600-60484400	Weak transcription	Aorta	Aorta
2	chr5:60481000-60484200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:60483000-60484000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:60483200-60484000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:60483200-60484200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr5:60483200-60484400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr5:60483200-60484400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr5:60483400-60484000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr5:60483400-60484200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:60483400-60484200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr5:60483600-60484200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:60483600-60484200	Enhancers	Left Ventricle	heart
13	chr5:60483800-60484200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr5:60483800-60484200	Enhancers	H9 Cell Line	embryonic stem cell
15	chr5:60483800-60484200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr5:60483800-60484200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:60483800-60484800	Enhancers	Right Atrium	heart

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