Variant report

Variant	rs511308
Chromosome Location	chr1:103231299-103231300
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1012282	1.00[JPT][hapmap]
rs10874665	1.00[JPT][hapmap]
rs11811018	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12136748	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1241162	1.00[JPT][hapmap]
rs1241164	0.82[CHB][hapmap]
rs1241166	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1241172	0.97[ASN][1000 genomes]
rs1241173	0.87[ASN][1000 genomes]
rs1241181	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1241182	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1241183	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1241190	0.87[ASN][1000 genomes]
rs1241197	0.92[ASN][1000 genomes]
rs12728397	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12743365	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12748410	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12749981	0.87[ASN][1000 genomes]
rs12752702	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1463037	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1463038	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1463039	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1564143	1.00[JPT][hapmap]
rs1621055	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1622838	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1676493	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1676494	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs1676497	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1676498	1.00[JPT][hapmap]
rs1676499	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1676500	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1676501	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1676502	1.00[JPT][hapmap]
rs17506286	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1763344	1.00[JPT][hapmap]
rs1763345	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1763346	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1932336	0.87[ASN][1000 genomes]
rs1932342	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2598461	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2615987	1.00[JPT][hapmap]
rs2615999	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2622848	1.00[JPT][hapmap]
rs2708397	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2708398	0.85[EUR][1000 genomes]
rs2783570	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs3102053	1.00[JPT][hapmap]
rs4353117	1.00[CHB][hapmap]
rs471949	0.84[EUR][1000 genomes]
rs474472	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4908280	1.00[JPT][hapmap]
rs500936	0.84[EUR][1000 genomes]
rs514077	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs570092	0.83[EUR][1000 genomes]
rs579692	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs583527	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs597499	0.84[EUR][1000 genomes]
rs606756	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs618072	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs621734	0.87[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs629282	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs631137	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs636801	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6663034	1.00[JPT][hapmap]
rs6670486	1.00[JPT][hapmap]
rs6672647	1.00[JPT][hapmap]
rs670939	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs674479	0.84[EUR][1000 genomes]
rs688880	0.84[EUR][1000 genomes]
rs72681287	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462705	chr1:103123803-103267759	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv546923	chr1:103123803-103267759	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv870987	chr1:103155901-103267759	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv462716	chr1:103176592-103259724	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv546924	chr1:103176592-103259724	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv546925	chr1:103176592-103267759	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv546926	chr1:103183066-103267759	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv830882	chr1:103192683-103355802	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv546927	chr1:103199589-103267759	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103218800-103233000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:103229800-103231400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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