Variant report

Variant	rs7718962
Chromosome Location	chr5:42463380-42463381
allele	C/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:59)

rs_ID	r²[population]
rs10059251	1.00[ASN][1000 genomes]
rs10440649	1.00[CHB][hapmap]
rs11957404	1.00[CHB][hapmap]
rs13153060	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13156541	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13168764	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs13171720	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13180731	1.00[ASN][1000 genomes]
rs13182117	1.00[CHB][hapmap]
rs13184352	1.00[CHB][hapmap]
rs13187542	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13188386	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13354167	1.00[CHB][hapmap]
rs17574527	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17574616	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17575164	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17636762	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs28943878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28943880	0.87[EUR][1000 genomes]
rs28943882	1.00[CHB][hapmap]
rs33939197	0.95[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs34126503	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34161441	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34305870	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34714947	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35331831	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35418208	1.00[ASN][1000 genomes]
rs35585211	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35920615	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4129472	1.00[CHB][hapmap]
rs4242100	1.00[ASN][1000 genomes]
rs4242101	1.00[ASN][1000 genomes]
rs4292454	1.00[CHB][hapmap]
rs4320267	1.00[ASN][1000 genomes]
rs4457090	1.00[ASN][1000 genomes]
rs4866836	1.00[ASN][1000 genomes]
rs56781446	1.00[ASN][1000 genomes]
rs61043035	1.00[ASN][1000 genomes]
rs6451618	1.00[ASN][1000 genomes]
rs67005744	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs67277863	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs67314897	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67846180	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67871277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6863381	1.00[CHB][hapmap]
rs6872878	1.00[ASN][1000 genomes]
rs6885716	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6891036	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72753062	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72753064	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7702524	1.00[CHB][hapmap]
rs7703669	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709790	1.00[CHB][hapmap]
rs7715374	1.00[ASN][1000 genomes]
rs7716495	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7732059	1.00[ASN][1000 genomes]
rs9292848	1.00[ASN][1000 genomes]
rs9292851	1.00[ASN][1000 genomes]
rs9292854	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv948514	chr5:42270161-42519262	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr5:42450000-42466800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:42454800-42471800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:42455000-42469600	Weak transcription	Lung	lung
4	chr5:42455000-42474400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr5:42455000-42477400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:42461600-42467000	Weak transcription	Fetal Stomach	stomach
7	chr5:42462000-42468200	Weak transcription	Fetal Muscle Leg	muscle
8	chr5:42462000-42468400	Weak transcription	Adipose Nuclei	Adipose
9	chr5:42462000-42471600	Weak transcription	Fetal Intestine Large	intestine
10	chr5:42462000-42472000	Weak transcription	Fetal Lung	lung
11	chr5:42462200-42470000	Weak transcription	Left Ventricle	heart
12	chr5:42462200-42470400	Weak transcription	Fetal Intestine Small	intestine
13	chr5:42462200-42470800	Weak transcription	Aorta	Aorta
14	chr5:42462200-42470800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr5:42462200-42471000	Weak transcription	Ovary	ovary
16	chr5:42462200-42471600	Weak transcription	Psoas Muscle	Psoas
17	chr5:42462200-42472200	Weak transcription	Fetal Heart	heart
18	chr5:42463000-42467000	Weak transcription	Liver	Liver

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