Variant report

Variant	rs72977420
Chromosome Location	chr3:53768547-53768548
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	chr3:53764419..53766196-chr3:53767205..53769405,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs13319223	1.00[AMR][1000 genomes]
rs13320673	0.83[AFR][1000 genomes]
rs13353529	1.00[AMR][1000 genomes]
rs58288602	1.00[AMR][1000 genomes]
rs72979962	1.00[AMR][1000 genomes]
rs72982040	1.00[AMR][1000 genomes]
rs72982042	1.00[AMR][1000 genomes]
rs72982043	1.00[AMR][1000 genomes]
rs72982055	1.00[AMR][1000 genomes]
rs893368	1.00[AMR][1000 genomes]
rs9311515	1.00[AMR][1000 genomes]
rs9654000	1.00[AMR][1000 genomes]
rs9849534	1.00[AMR][1000 genomes]
rs9858883	1.00[AMR][1000 genomes]
rs9863133	0.83[AFR][1000 genomes]
rs9863776	1.00[AMR][1000 genomes]
rs9864070	1.00[AMR][1000 genomes]
rs9869321	0.83[AFR][1000 genomes]
rs9869730	1.00[AMR][1000 genomes]
rs9880201	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1001128	chr3:53659570-53927842	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1013783	chr3:53694418-53934781	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1002452	chr3:53742148-53802811	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1000280	chr3:53742736-53770588	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv520027	chr3:53762713-53784625	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53742600-53778000	Weak transcription	Pancreas	Pancrea
2	chr3:53761600-53781800	Weak transcription	Spleen	Spleen
3	chr3:53764200-53779800	Weak transcription	Liver	Liver
4	chr3:53764600-53770800	Strong transcription	Fetal Intestine Large	intestine
5	chr3:53764800-53768600	Weak transcription	Right Ventricle	heart
6	chr3:53764800-53769400	Weak transcription	Right Atrium	heart
7	chr3:53764800-53783400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:53765000-53773600	Weak transcription	Fetal Brain Male	brain
9	chr3:53765000-53779800	Weak transcription	Brain Anterior Caudate	brain
10	chr3:53765000-53779800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr3:53765000-53788600	Weak transcription	Fetal Kidney	kidney
12	chr3:53765200-53783400	Weak transcription	Brain Angular Gyrus	brain
13	chr3:53765400-53774000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr3:53765400-53781600	Weak transcription	Brain Hippocampus Middle	brain
15	chr3:53766200-53769200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr3:53766600-53769200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr3:53766600-53781200	Weak transcription	Lung	lung
18	chr3:53766800-53768600	Weak transcription	Fetal Lung	lung
19	chr3:53767200-53768600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr3:53767200-53769400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:53768400-53774000	Strong transcription	Fetal Intestine Small	intestine

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