Variant report

Variant	rs1304314
Chromosome Location	chr12:60675528-60675529
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10747869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10784031	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11173375	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11173381	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11173388	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12296463	0.92[ASN][1000 genomes]
rs12297378	0.84[ASN][1000 genomes]
rs12299963	1.00[ASN][1000 genomes]
rs12303899	0.88[ASN][1000 genomes]
rs12307563	1.00[ASN][1000 genomes]
rs12308835	1.00[ASN][1000 genomes]
rs12309540	0.92[ASN][1000 genomes]
rs12317243	0.92[ASN][1000 genomes]
rs12321091	0.84[ASN][1000 genomes]
rs12321390	0.92[ASN][1000 genomes]
rs12322592	1.00[ASN][1000 genomes]
rs1354471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17123427	0.84[ASN][1000 genomes]
rs17123435	0.92[ASN][1000 genomes]
rs17123543	1.00[ASN][1000 genomes]
rs17123549	1.00[ASN][1000 genomes]
rs17123637	1.00[ASN][1000 genomes]
rs1948852	0.96[ASN][1000 genomes]
rs2364147	1.00[ASN][1000 genomes]
rs3902471	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4320983	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4435040	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4520627	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4556582	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61357417	1.00[ASN][1000 genomes]
rs7132436	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7135299	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7139186	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7297241	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7300012	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7300515	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7307799	0.85[AFR][1000 genomes]
rs7309556	0.92[ASN][1000 genomes]
rs7310877	0.84[ASN][1000 genomes]
rs73370703	1.00[ASN][1000 genomes]
rs73370791	0.96[ASN][1000 genomes]
rs7961348	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7975734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs978912	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899137	chr12:60568891-60797083	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1054287	chr12:60601870-60861866	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv832431	chr12:60626292-60809233	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr12:60663800-60675600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:60675200-60676200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:60675200-60676800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:60675400-60675600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:60675400-60675600	ZNF genes & repeats	Pancreas	Pancrea
6	chr12:60675400-60676400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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