Variant report

Variant	rs4650549
Chromosome Location	chr1:78942542-78942543
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10443177	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10489785	0.81[JPT][hapmap]
rs10782665	0.88[CEU][hapmap];0.91[JPT][hapmap]
rs10873985	0.88[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs11162488	0.91[JPT][hapmap]
rs11162490	0.91[JPT][hapmap]
rs11162492	0.96[CEU][hapmap];0.80[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11162493	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12024476	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12049259	0.86[JPT][hapmap]
rs12073895	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1332254	0.82[CEU][hapmap];0.86[JPT][hapmap]
rs1543675	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1571366	0.86[JPT][hapmap]
rs1576806	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1581749	0.86[JPT][hapmap]
rs1590313	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1929982	0.91[JPT][hapmap]
rs2208897	0.86[JPT][hapmap]
rs2224674	0.91[JPT][hapmap]
rs2990698	0.87[JPT][hapmap]
rs4650548	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs490938	0.81[JPT][hapmap]
rs525351	0.87[JPT][hapmap]
rs538855	0.81[JPT][hapmap]
rs555475	0.86[JPT][hapmap]
rs571456	0.82[JPT][hapmap]
rs583964	0.82[JPT][hapmap]
rs587996	0.86[JPT][hapmap]
rs631280	0.86[JPT][hapmap]
rs632184	0.91[JPT][hapmap]
rs646012	0.91[JPT][hapmap]
rs6678699	0.89[CEU][hapmap];0.86[JPT][hapmap]
rs7417327	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS 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 miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv870807	chr1:78867347-79032598	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78937400-78949600	Weak transcription	Fetal Muscle Leg	muscle
2	chr1:78937600-78942600	Enhancers	Liver	Liver
3	chr1:78939600-78943200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr1:78941000-78943200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr1:78941400-78942800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:78941600-78942600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr1:78941600-78942600	Enhancers	Hela-S3	cervix
8	chr1:78941600-78942600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr1:78941800-78942600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:78941800-78942600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:78941800-78942600	Enhancers	HepG2	liver
12	chr1:78942200-78942600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:78942200-78942600	Enhancers	HMEC	breast
14	chr1:78942400-78942600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:78942400-78942600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:78942400-78942800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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