Variant report

Variant	rs12193813
Chromosome Location	chr6:38756052-38756053
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11751371	1.00[ASN][1000 genomes]
rs11756771	1.00[ASN][1000 genomes]
rs12192604	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12192779	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12192848	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12194119	1.00[ASN][1000 genomes]
rs12197353	1.00[ASN][1000 genomes]
rs12197467	1.00[ASN][1000 genomes]
rs12206059	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12209734	1.00[ASN][1000 genomes]
rs12215108	1.00[ASN][1000 genomes]
rs17552381	1.00[ASN][1000 genomes]
rs17552881	1.00[ASN][1000 genomes]
rs17623162	1.00[ASN][1000 genomes]
rs2092550	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4279429	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45578845	1.00[ASN][1000 genomes]
rs55902132	1.00[ASN][1000 genomes]
rs55933840	1.00[ASN][1000 genomes]
rs56093987	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56148146	1.00[ASN][1000 genomes]
rs56246807	1.00[ASN][1000 genomes]
rs56266437	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56284095	1.00[ASN][1000 genomes]
rs56323406	1.00[ASN][1000 genomes]
rs62396392	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62396394	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62396399	1.00[ASN][1000 genomes]
rs62396403	1.00[ASN][1000 genomes]
rs62396404	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62396406	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62396408	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6933930	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72856585	1.00[ASN][1000 genomes]
rs72856596	1.00[ASN][1000 genomes]
rs72856597	1.00[ASN][1000 genomes]
rs72856598	1.00[ASN][1000 genomes]
rs72858234	1.00[ASN][1000 genomes]
rs72858240	1.00[ASN][1000 genomes]
rs72858280	1.00[ASN][1000 genomes]
rs72858282	1.00[ASN][1000 genomes]
rs72858286	1.00[ASN][1000 genomes]
rs72858288	1.00[ASN][1000 genomes]
rs72858292	1.00[ASN][1000 genomes]
rs72858299	1.00[ASN][1000 genomes]
rs7760621	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7773144	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs991766	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv830642	chr6:38645056-38800657	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv830643	chr6:38726675-38905589	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv462915	chr6:38728142-38773293	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv602959	chr6:38728142-38786528	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv470814	chr6:38728142-38790149	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv462916	chr6:38747770-38782401	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv602960	chr6:38747770-38782401	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38751800-38763400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:38754600-38764000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:38754800-38758200	Enhancers	HUVEC	blood vessel
4	chr6:38755600-38759200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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