Variant report

Variant	rs73759470
Chromosome Location	chr5:60366890-60366891
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:60365711..60368002-chr5:60369594..60371777,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs16878535	1.00[AMR][1000 genomes]
rs16878537	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16878539	1.00[AMR][1000 genomes]
rs16878544	1.00[AMR][1000 genomes]
rs16878565	0.96[AFR][1000 genomes]
rs4647074	1.00[AMR][1000 genomes]
rs4647116	1.00[AMR][1000 genomes]
rs55638584	1.00[AMR][1000 genomes]
rs55659107	1.00[AMR][1000 genomes]
rs56020025	1.00[AMR][1000 genomes]
rs56043434	1.00[AMR][1000 genomes]
rs56071223	1.00[AMR][1000 genomes]
rs56113732	1.00[AMR][1000 genomes]
rs56256328	1.00[AMR][1000 genomes]
rs56287212	1.00[AMR][1000 genomes]
rs56306823	1.00[AMR][1000 genomes]
rs56320246	1.00[AMR][1000 genomes]
rs56386934	1.00[AMR][1000 genomes]
rs57108975	1.00[AMR][1000 genomes]
rs57366470	1.00[AMR][1000 genomes]
rs58930565	1.00[AMR][1000 genomes]
rs59453232	1.00[AMR][1000 genomes]
rs60239490	1.00[AMR][1000 genomes]
rs60294165	0.90[AFR][1000 genomes]
rs61277564	0.85[AFR][1000 genomes]
rs61332980	0.90[AFR][1000 genomes]
rs6449516	1.00[AMR][1000 genomes]
rs6869855	1.00[AMR][1000 genomes]
rs6870631	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6881713	1.00[AMR][1000 genomes]
rs6881960	1.00[AMR][1000 genomes]
rs6885974	1.00[AMR][1000 genomes]
rs73759430	1.00[AMR][1000 genomes]
rs73759431	1.00[AMR][1000 genomes]
rs73759432	1.00[AMR][1000 genomes]
rs73759434	1.00[AMR][1000 genomes]
rs73759435	1.00[AMR][1000 genomes]
rs73759437	1.00[AMR][1000 genomes]
rs73759441	1.00[AMR][1000 genomes]
rs73759445	1.00[AMR][1000 genomes]
rs73759446	1.00[AMR][1000 genomes]
rs73759447	1.00[AMR][1000 genomes]
rs73759450	1.00[AMR][1000 genomes]
rs73759452	1.00[AMR][1000 genomes]
rs73759454	1.00[AMR][1000 genomes]
rs73759455	1.00[AMR][1000 genomes]
rs73759456	1.00[AMR][1000 genomes]
rs73759457	1.00[AMR][1000 genomes]
rs73759458	1.00[AMR][1000 genomes]
rs73759459	1.00[AMR][1000 genomes]
rs73759461	1.00[AMR][1000 genomes]
rs73759468	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759469	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759471	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759472	0.93[AFR][1000 genomes]
rs73759474	0.88[AFR][1000 genomes]
rs73759475	1.00[AMR][1000 genomes]
rs7701959	1.00[AMR][1000 genomes]
rs7717284	0.96[AFR][1000 genomes];1.00[AMR][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	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	nsv1017095	chr5:60050600-60414783	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv933326	chr5:60074031-60413061	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv881717	chr5:60141245-60372582	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv869065	chr5:60180775-60428760	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv598313	chr5:60247815-60374912	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv881722	chr5:60266875-60384171	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1019307	chr5:60295350-60409077	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60326000-60400800	Weak transcription	Left Ventricle	heart
2	chr5:60347200-60379200	Weak transcription	Ovary	ovary
3	chr5:60349400-60370800	Weak transcription	HSMM	muscle
4	chr5:60350400-60371400	Weak transcription	NHDF-Ad	bronchial
5	chr5:60350600-60378600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:60350800-60396200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:60357800-60369000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:60362800-60377200	Weak transcription	Psoas Muscle	Psoas
9	chr5:60363000-60369200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:60365200-60372400	Weak transcription	Dnd41	blood
11	chr5:60365400-60367000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr5:60365400-60367200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:60365600-60369200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr5:60365600-60376400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:60365600-60387000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr5:60366400-60397400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr5:60366800-60367000	Enhancers	Duodenum Mucosa	Duodenum
18	chr5:60366800-60368200	Enhancers	Fetal Kidney	kidney

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