Variant report

Variant	rs444598
Chromosome Location	chr3:78801897-78801898
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11127634	0.83[ASN][1000 genomes]
rs1480687	1.00[YRI][hapmap]
rs162870	0.89[CHB][hapmap]
rs1843786	0.89[CHB][hapmap]
rs2304503	0.83[JPT][hapmap]
rs35812135	0.84[ASN][1000 genomes]
rs365165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3821596	1.00[YRI][hapmap]
rs439325	0.89[CHB][hapmap]
rs510006	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6762005	0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9309819	0.89[CHB][hapmap];0.80[ASN][1000 genomes]
rs967454	1.00[YRI][hapmap]
rs9835958	1.00[YRI][hapmap]
rs9837982	0.81[ASN][1000 genomes]
rs9875094	1.00[YRI][hapmap]
rs9877603	0.84[CHB][hapmap];1.00[YRI][hapmap]
rs9881587	0.83[CHB][hapmap]

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	nsv1010804	chr3:78739648-79087470	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv533681	chr3:78750924-79017336	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2753211	chr3:78784269-78809116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:78783800-78803400	Weak transcription	Fetal Muscle Leg	muscle
2	chr3:78787400-78802800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:78787400-78814800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:78788400-78803400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr3:78788800-78802600	Weak transcription	NH-A	brain
6	chr3:78793200-78802600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:78793600-78802800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:78796400-78803200	Weak transcription	HepG2	liver
9	chr3:78797200-78802600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:78798600-78810200	Weak transcription	Fetal Lung	lung
11	chr3:78800400-78802400	Weak transcription	HMEC	breast
12	chr3:78800800-78802400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:78800800-78802600	Weak transcription	Osteobl	bone
14	chr3:78800800-78802800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:78801200-78802800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr3:78801200-78803200	Weak transcription	NHEK	skin
17	chr3:78801800-78804000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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