Variant report

Variant	rs1349002
Chromosome Location	chr3:143428318-143428319
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1900649	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4839654	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6769781	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs7620070	0.81[EUR][1000 genomes]

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	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	esv3411176	chr3:143423880-143457059	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1012559	chr3:143424787-143444900	Weak transcription Enhancers Active TSS	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	chr3:143394200-143470200	Weak transcription	Primary B cells from cord blood	blood
2	chr3:143418000-143431200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:143418800-143428600	Weak transcription	Brain Angular Gyrus	brain
4	chr3:143419200-143428400	Weak transcription	Brain Anterior Caudate	brain
5	chr3:143427000-143428400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr3:143427200-143429600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr3:143427400-143428400	Weak transcription	Brain Substantia Nigra	brain
8	chr3:143427400-143444600	Weak transcription	Esophagus	oesophagus
9	chr3:143428000-143429000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:143428200-143428400	Enhancers	Brain Hippocampus Middle	brain
11	chr3:143428200-143429200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:143428200-143429400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:143428200-143429400	Enhancers	Brain Inferior Temporal Lobe	brain

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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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