Variant report

Variant	rs2798944
Chromosome Location	chr1:95031994-95031995
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10399782	1.00[EUR][1000 genomes]
rs1146475	1.00[EUR][1000 genomes]
rs1146478	1.00[EUR][1000 genomes]
rs1146479	1.00[EUR][1000 genomes]
rs1146506	1.00[EUR][1000 genomes]
rs1146516	1.00[EUR][1000 genomes]
rs11801203	1.00[EUR][1000 genomes]
rs11801251	1.00[EUR][1000 genomes]
rs12064943	1.00[EUR][1000 genomes]
rs12065028	1.00[EUR][1000 genomes]
rs1303136	1.00[EUR][1000 genomes]
rs1337856	1.00[EUR][1000 genomes]
rs1337857	1.00[EUR][1000 genomes]
rs1343483	1.00[EUR][1000 genomes]
rs1361124	1.00[EUR][1000 genomes]
rs1577920	1.00[EUR][1000 genomes]
rs1616972	1.00[EUR][1000 genomes]
rs1617363	1.00[EUR][1000 genomes]
rs1617719	1.00[EUR][1000 genomes]
rs1687921	1.00[EUR][1000 genomes]
rs1687925	1.00[EUR][1000 genomes]
rs1687926	1.00[EUR][1000 genomes]
rs1687929	1.00[EUR][1000 genomes]
rs1687938	1.00[EUR][1000 genomes]
rs1687939	1.00[EUR][1000 genomes]
rs1687942	1.00[EUR][1000 genomes]
rs1687945	1.00[EUR][1000 genomes]
rs1687953	1.00[EUR][1000 genomes]
rs1687958	1.00[EUR][1000 genomes]
rs1687959	1.00[EUR][1000 genomes]
rs1687960	1.00[EUR][1000 genomes]
rs1687967	1.00[EUR][1000 genomes]
rs1687969	1.00[EUR][1000 genomes]
rs1747656	1.00[EUR][1000 genomes]
rs1747658	1.00[EUR][1000 genomes]
rs1749540	1.00[EUR][1000 genomes]
rs1765616	1.00[EUR][1000 genomes]
rs1765624	1.00[EUR][1000 genomes]
rs1765625	1.00[EUR][1000 genomes]
rs1765631	1.00[EUR][1000 genomes]
rs1765633	1.00[EUR][1000 genomes]
rs1765634	1.00[EUR][1000 genomes]
rs1765638	1.00[EUR][1000 genomes]
rs1765639	1.00[EUR][1000 genomes]
rs1765642	1.00[EUR][1000 genomes]
rs1765653	1.00[EUR][1000 genomes]
rs1772902	1.00[EUR][1000 genomes]
rs1778210	1.00[EUR][1000 genomes]
rs2094824	1.00[EUR][1000 genomes]
rs2798943	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2893296	1.00[EUR][1000 genomes]
rs2971948	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs479627	1.00[EUR][1000 genomes]
rs484420	1.00[EUR][1000 genomes]
rs4847315	1.00[EUR][1000 genomes]
rs512648	1.00[EUR][1000 genomes]
rs513976	1.00[EUR][1000 genomes]
rs529642	1.00[EUR][1000 genomes]
rs598962	1.00[EUR][1000 genomes]
rs610088	1.00[EUR][1000 genomes]
rs630382	1.00[EUR][1000 genomes]
rs6660037	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs698945	1.00[EUR][1000 genomes]
rs768967	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs860909	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531881	chr1:94937444-95053785	Weak transcription Bivalent Enhancer Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv870696	chr1:95005220-95081587	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv871391	chr1:95005220-95083836	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
5	nsv871279	chr1:95028981-95083836	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95028600-95032000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:95028600-95043400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:95029000-95034400	Weak transcription	HSMMtube	muscle
4	chr1:95031800-95032400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr1:95031800-95032800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:95031800-95032800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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