Variant report

Variant	rs12161519
Chromosome Location	chr1:104932760-104932761
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10157651	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10881154	0.96[ASN][1000 genomes]
rs10881155	0.96[ASN][1000 genomes]
rs11185447	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11488065	0.99[ASN][1000 genomes]
rs11488076	0.95[ASN][1000 genomes]
rs11801797	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11811323	0.82[EUR][1000 genomes]
rs12057598	0.88[ASN][1000 genomes]
rs12065559	0.92[ASN][1000 genomes]
rs12097185	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17021434	0.82[EUR][1000 genomes]
rs17021435	0.82[EUR][1000 genomes]
rs17021473	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1960592	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2594687	0.84[ASN][1000 genomes]
rs2594689	0.86[ASN][1000 genomes]
rs2646717	0.86[ASN][1000 genomes]
rs2646718	0.82[ASN][1000 genomes]
rs2646721	0.86[ASN][1000 genomes]
rs315149	0.96[ASN][1000 genomes]
rs59574881	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6661785	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6662516	0.83[ASN][1000 genomes]
rs6695884	0.83[ASN][1000 genomes]
rs72998807	0.87[ASN][1000 genomes]
rs74104355	0.82[EUR][1000 genomes]
rs74104384	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74104390	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74106694	0.82[EUR][1000 genomes]
rs74106695	0.82[EUR][1000 genomes]
rs74106739	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7413907	0.96[ASN][1000 genomes]
rs7542377	0.96[ASN][1000 genomes]
rs9662977	0.96[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	nsv872072	chr1:104470622-105076810	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1010903	chr1:104483363-105468941	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2762170	chr1:104817700-105411596	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv872076	chr1:104871518-104952299	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
5	nsv547212	chr1:104890086-104946284	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
6	nsv872077	chr1:104890559-104952299	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
7	nsv547213	chr1:104890559-104954365	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
8	nsv872078	chr1:104890559-104997471	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
9	nsv547214	chr1:104893852-104946284	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
10	nsv872079	chr1:104893852-104980964	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
11	nsv872080	chr1:104893852-104985647	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
12	nsv462851	chr1:104897848-104987416	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
13	nsv547215	chr1:104897848-104987416	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
14	nsv547216	chr1:104911326-104980964	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:104930200-104933600	Enhancers	HMEC	breast
2	chr1:104931200-104933600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:104932600-104933200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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