Variant report

Variant	rs60460548
Chromosome Location	chr15:31850330-31850331
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10220758	1.00[EUR][1000 genomes]
rs12324344	1.00[EUR][1000 genomes]
rs12324688	1.00[EUR][1000 genomes]
rs16955871	1.00[EUR][1000 genomes]
rs1870438	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2455701	1.00[EUR][1000 genomes]
rs57096428	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58136622	1.00[EUR][1000 genomes]
rs58225563	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58472566	1.00[EUR][1000 genomes]
rs58543954	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58879698	1.00[EUR][1000 genomes]
rs59108144	1.00[AMR][1000 genomes]
rs59942460	1.00[EUR][1000 genomes]
rs59990341	1.00[EUR][1000 genomes]
rs60585254	1.00[EUR][1000 genomes]
rs60832561	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61033035	1.00[EUR][1000 genomes]
rs61514382	1.00[EUR][1000 genomes]
rs61741252	1.00[EUR][1000 genomes]
rs73368664	1.00[EUR][1000 genomes]
rs73370522	1.00[EUR][1000 genomes]
rs73370534	1.00[EUR][1000 genomes]
rs73370564	1.00[EUR][1000 genomes]
rs73372505	1.00[EUR][1000 genomes]
rs73372523	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73372539	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73372540	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73372552	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73372573	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73372576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73372579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73372589	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73372595	1.00[EUR][1000 genomes]
rs73372596	1.00[EUR][1000 genomes]
rs73374536	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73374560	1.00[EUR][1000 genomes]
rs74012523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74012530	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74012535	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74012545	1.00[EUR][1000 genomes]
rs74012546	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74012554	1.00[EUR][1000 genomes]
rs8029278	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054147	chr15:31014507-31972706	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv542306	chr15:31014507-31972706	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv1051589	chr15:31728004-31972706	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv542320	chr15:31728004-31972706	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv469633	chr15:31731003-31904613	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv482330	chr15:31731003-31904613	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv903845	chr15:31751664-31939001	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv2422205	chr15:31808878-32375021	Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv2422269	chr15:31808878-32375021	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv2422351	chr15:31808878-32375021	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	esv2422455	chr15:31808878-32375021	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1045095	chr15:31835044-32439113	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	esv3436108	chr15:31849560-31853958	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31838200-31854200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:31842400-31852600	Weak transcription	Colonic Mucosa	Colon
3	chr15:31846400-31867800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr15:31847000-31851600	Weak transcription	NHDF-Ad	bronchial
5	chr15:31847200-31850600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr15:31847200-31852600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr15:31847400-31852000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr15:31847800-31851000	Weak transcription	Gastric	stomach
9	chr15:31848000-31851200	Weak transcription	Spleen	Spleen
10	chr15:31848000-31852200	Weak transcription	Right Atrium	heart
11	chr15:31848000-31853400	Weak transcription	Adipose Nuclei	Adipose
12	chr15:31848200-31851400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr15:31848400-31851200	Strong transcription	Stomach Smooth Muscle	stomach
14	chr15:31848600-31852600	Weak transcription	Left Ventricle	heart
15	chr15:31848600-31853000	Weak transcription	Right Ventricle	heart
16	chr15:31848800-31851200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr15:31849000-31851200	Strong transcription	Brain Anterior Caudate	brain
18	chr15:31849200-31851400	Strong transcription	Brain Cingulate Gyrus	brain
19	chr15:31849200-31851800	Strong transcription	Brain Inferior Temporal Lobe	brain
20	chr15:31849200-31851800	Strong transcription	Brain Substantia Nigra	brain
21	chr15:31849200-31852800	Weak transcription	Brain Germinal Matrix	brain
22	chr15:31849400-31850400	Strong transcription	Fetal Brain Female	brain
23	chr15:31849400-31851200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr15:31849400-31851600	Strong transcription	Brain Hippocampus Middle	brain
25	chr15:31849400-31859200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr15:31849600-31851400	Strong transcription	Ovary	ovary
27	chr15:31849800-31850400	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr15:31849800-31851200	Weak transcription	Lung	lung
29	chr15:31850200-31850400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr15:31850200-31850400	ZNF genes & repeats	Aorta	Aorta
31	chr15:31850200-31850400	Genic enhancers	Pancreas	Pancrea
32	chr15:31850200-31858800	Weak transcription	Brain Angular Gyrus	brain

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