Variant report

Variant	rs6860439
Chromosome Location	chr5:60115428-60115429
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs16878535	1.00[AMR][1000 genomes]
rs3910825	0.97[AFR][1000 genomes];1.00[AMR][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]
rs56376821	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56386934	1.00[AMR][1000 genomes]
rs57251027	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57366470	1.00[AMR][1000 genomes]
rs57521420	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58930565	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60239490	1.00[AMR][1000 genomes]
rs6449516	1.00[AMR][1000 genomes]
rs6869855	1.00[AMR][1000 genomes]
rs6881713	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6881960	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6885974	1.00[AMR][1000 genomes]
rs73759411	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759415	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759422	1.00[AMR][1000 genomes]
rs73759426	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759427	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759430	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759431	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759432	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759434	1.00[AMR][1000 genomes]
rs73759435	0.84[AFR][1000 genomes];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]
rs7701959	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492277	chr5:59905195-60180834	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh 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	13 gene(s)	inside rSNPs	diseases
2	nsv462198	chr5:59969015-60116613	Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv598298	chr5:59969015-60116613	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv934153	chr5:60004982-60309751	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv2763456	chr5:60007355-60151767	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv1026190	chr5:60020156-60148535	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv537769	chr5:60020156-60148535	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
8	esv2752073	chr5:60034475-60136626	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60102200-60137800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:60103000-60125600	Weak transcription	Brain Angular Gyrus	brain
3	chr5:60103000-60129000	Weak transcription	Fetal Intestine Small	intestine
4	chr5:60106600-60121600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:60107000-60122600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:60107400-60125600	Weak transcription	NHEK	skin
7	chr5:60109200-60121400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:60110600-60129000	Weak transcription	Fetal Intestine Large	intestine
9	chr5:60110800-60115600	Weak transcription	K562	blood
10	chr5:60111000-60116600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:60112600-60120400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr5:60113400-60115800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:60114400-60115600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr5:60114800-60115800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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