Variant report

Variant	rs10070419
Chromosome Location	chr5:36453990-36453991
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10056349	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10056352	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10056466	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10058111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10058115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10058314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10058422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10058564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10061999	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10064305	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10067251	1.00[AMR][1000 genomes]
rs10073164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10073279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10077206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10085047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10085102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13354988	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13359394	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28479598	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28505610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28523559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28647761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv597817	chr5:36433782-36460075	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv597818	chr5:36440940-36460462	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv597819	chr5:36445458-36472990	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1023545	chr5:36448895-36461331	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1016667	chr5:36448895-36464362	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv2763449	chr5:36448895-36464374	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv597820	chr5:36452065-36463088	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv517187	chr5:36452471-36460462	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36445800-36462800	Weak transcription	Esophagus	oesophagus
2	chr5:36450600-36456800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:36451800-36457600	Weak transcription	HSMMtube	muscle
4	chr5:36452000-36457400	Weak transcription	Osteobl	bone
5	chr5:36452800-36456800	Weak transcription	HSMM	muscle
6	chr5:36453200-36455600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:36453200-36455600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:36453400-36459000	Weak transcription	Placenta	Placenta
9	chr5:36453600-36455400	Enhancers	HMEC	breast
10	chr5:36453800-36455000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr5:36453800-36455400	Enhancers	NHEK	skin
12	chr5:36453800-36457400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:36453800-36457400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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