Variant report

Variant	rs4683816
Chromosome Location	chr3:139964015-139964016
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11915085	1.00[CHD][hapmap]
rs13061767	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs1383021	1.00[CHD][hapmap]
rs1479869	0.83[ASW][hapmap];1.00[CHD][hapmap]
rs2350515	0.84[CEU][hapmap]
rs4502547	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs4683485	1.00[CHD][hapmap]
rs6789431	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs6792173	1.00[CHD][hapmap]
rs6802157	1.00[CHD][hapmap]
rs9846393	0.82[EUR][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	nsv829739	chr3:139797496-140002685	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv432486	chr3:139924092-140049121	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv2757891	chr3:139925764-140524730	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv2759181	chr3:139925764-140524730	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv829740	chr3:139925767-140106169	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv527831	chr3:139932966-140533823	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4683816	PRR23B	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139958600-139967400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr3:139961400-139964800	Enhancers	HSMM	muscle
3	chr3:139961600-139964600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr3:139961800-139964800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr3:139962000-139970600	Weak transcription	Ovary	ovary
6	chr3:139962600-139966400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:139963000-139965200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:139963200-139965400	Enhancers	HSMMtube	muscle
9	chr3:139963200-139969800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr3:139963400-139964400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:139963400-139964400	Enhancers	NH-A	brain
12	chr3:139963400-139968000	Weak transcription	Right Atrium	heart
13	chr3:139963400-139968600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr3:139963800-139964400	Enhancers	Adipose Nuclei	Adipose
15	chr3:139964000-139964600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr3:139964000-139971600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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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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