Variant report

Variant	rs7716495
Chromosome Location	chr5:42428091-42428092
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10059251	1.00[ASN][1000 genomes]
rs12513643	0.93[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12517931	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12520318	0.93[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs13153060	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13156541	1.00[ASN][1000 genomes]
rs13169376	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13171720	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13180731	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13187542	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13188386	1.00[ASN][1000 genomes]
rs17574527	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17574616	1.00[ASN][1000 genomes]
rs17575164	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17636762	1.00[ASN][1000 genomes]
rs28943878	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33939197	0.84[AFR][1000 genomes]
rs34126503	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34161441	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34305870	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34714947	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35331831	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35418208	1.00[ASN][1000 genomes]
rs35585211	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3764453	0.86[EUR][1000 genomes]
rs4242100	1.00[ASN][1000 genomes]
rs4242101	1.00[ASN][1000 genomes]
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]
rs67314897	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67846180	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67871277	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6872878	1.00[ASN][1000 genomes]
rs6885716	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6891036	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72753062	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72753064	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7703669	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7715374	1.00[ASN][1000 genomes]
rs7718962	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]

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	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	nsv881375	chr5:42254097-42442715	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42425200-42430000	Weak transcription	Aorta	Aorta
2	chr5:42425400-42428200	Weak transcription	Spleen	Spleen
3	chr5:42425400-42429200	Weak transcription	Esophagus	oesophagus
4	chr5:42425600-42434200	Weak transcription	Left Ventricle	heart
5	chr5:42426000-42430000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:42426400-42430000	Weak transcription	Right Ventricle	heart
7	chr5:42426600-42428600	Enhancers	Adipose Nuclei	Adipose
8	chr5:42426600-42429200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr5:42426600-42430000	Weak transcription	Ovary	ovary
10	chr5:42426600-42430000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr5:42426600-42430200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:42426600-42430400	Weak transcription	Colon Smooth Muscle	Colon
13	chr5:42426600-42435200	Weak transcription	Fetal Muscle Leg	muscle
14	chr5:42426600-42436000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr5:42427000-42430800	Enhancers	Liver	Liver
16	chr5:42427200-42429200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:42427400-42429800	Weak transcription	Fetal Lung	lung
18	chr5:42428000-42428200	Enhancers	Gastric	stomach
19	chr5:42428000-42428400	ZNF genes & repeats	Fetal Intestine Small	intestine
20	chr5:42428000-42428400	ZNF genes & repeats	Fetal Stomach	stomach
21	chr5:42428000-42428400	Enhancers	Psoas Muscle	Psoas
22	chr5:42428000-42429400	Enhancers	Right Atrium	heart
23	chr5:42428000-42431000	Enhancers	Skeletal Muscle Female	skeletal muscle

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