Variant report

Variant	rs12049500
Chromosome Location	chr1:71245429-71245430
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10889891	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10889892	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11209705	0.87[ASN][1000 genomes]
rs11579908	0.87[ASN][1000 genomes]
rs11803673	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11810467	0.87[ASN][1000 genomes]
rs12023582	0.94[CHB][hapmap]
rs12026456	0.87[ASN][1000 genomes]
rs12040186	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12041247	1.00[CHB][hapmap]
rs12048245	1.00[CHB][hapmap]
rs12048393	1.00[CHB][hapmap]
rs12049445	0.87[ASN][1000 genomes]
rs12141116	1.00[CHB][hapmap]
rs1335002	0.98[ASN][1000 genomes]
rs1591386	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17131473	0.93[CHB][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17131476	0.83[CHB][hapmap]
rs17131485	0.93[CHB][hapmap]
rs17131488	1.00[CHB][hapmap]
rs1889598	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1932050	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2068652	0.93[CHB][hapmap]
rs2152121	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2152122	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2152126	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs2782768	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2782769	0.99[ASN][1000 genomes]
rs2782770	1.00[ASN][1000 genomes]
rs2782786	1.00[CHB][hapmap]
rs2782787	1.00[CHB][hapmap]
rs2782788	1.00[CHB][hapmap]
rs2820513	1.00[CHB][hapmap]
rs2820540	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2820541	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2820542	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34087524	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34745168	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35615554	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4320734	0.91[ASN][1000 genomes]
rs55884889	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6684573	0.81[CHB][hapmap]
rs74086786	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs74086973	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs915220	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3452325	chr1:71243992-71249701	Active TSS Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
2	esv3452326	chr1:71244085-71249601	Flanking Active TSS Enhancers Weak transcription Active TSS	lncRNA	n/a	inside rSNPs	diseases
3	esv3452327	chr1:71244085-71249601	Enhancers Weak transcription Flanking Active TSS Active TSS	lncRNA	n/a	inside rSNPs	diseases
4	esv18463	chr1:71244106-71249573	Enhancers Flanking Active TSS Weak transcription Active TSS	lncRNA	n/a	inside rSNPs	diseases
5	nsv546457	chr1:71245142-71246574	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
6	nsv546458	chr1:71245142-71246843	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	inside rSNPs	diseases
7	nsv546459	chr1:71245142-71247531	Flanking Active TSS Enhancers Weak transcription Active TSS	lncRNA	n/a	inside rSNPs	diseases
8	nsv546460	chr1:71245142-71248283	Flanking Active TSS Enhancers Active TSS Weak transcription	lncRNA	n/a	inside rSNPs	diseases
9	nsv546461	chr1:71245142-71249139	Enhancers Flanking Active TSS Weak transcription Active TSS	lncRNA	n/a	inside rSNPs	diseases
10	nsv546462	chr1:71245142-71249485	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
11	nsv546463	chr1:71245423-71246843	Enhancers Flanking Active TSS Weak transcription Active TSS	lncRNA	n/a	inside rSNPs	diseases
12	nsv546464	chr1:71245423-71247822	Enhancers Flanking Active TSS Weak transcription Active TSS	lncRNA	n/a	inside rSNPs	diseases
13	nsv546465	chr1:71245423-71249139	Enhancers Weak transcription Flanking Active TSS Active TSS	lncRNA	n/a	inside rSNPs	diseases
14	nsv546466	chr1:71245423-71249485	Flanking Active TSS Enhancers Weak transcription Active TSS	lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71243000-71247000	Enhancers	NHDF-Ad	bronchial
2	chr1:71244800-71245600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:71244800-71245600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:71244800-71245800	Enhancers	HSMM	muscle
5	chr1:71245200-71246200	Weak transcription	Osteobl	bone
6	chr1:71245400-71246200	Enhancers	NHLF	lung

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