Variant report

Variant	rs2281343
Chromosome Location	chr6:38992613-38992614
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10305428	1.00[AMR][1000 genomes]
rs10484848	0.89[CHB][hapmap];0.93[JPT][hapmap]
rs10484849	0.89[CHB][hapmap];0.93[JPT][hapmap]
rs10484851	0.89[CHB][hapmap];0.93[JPT][hapmap]
rs10947769	0.89[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs10947772	0.81[ASN][1000 genomes]
rs10947773	0.88[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs10947774	0.89[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs10947775	0.89[CHB][hapmap];0.93[JPT][hapmap]
rs12192920	0.89[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs12196393	0.89[CHB][hapmap];0.93[JPT][hapmap]
rs12199125	0.90[ASN][1000 genomes]
rs12202648	0.89[CHB][hapmap];0.93[JPT][hapmap]
rs12202878	0.88[CHB][hapmap];0.93[JPT][hapmap]
rs12210777	0.89[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs12212950	0.89[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs1332016	0.89[CHB][hapmap];0.93[JPT][hapmap]
rs16891346	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16891368	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs16891395	1.00[AMR][1000 genomes]
rs16891420	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16891425	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16891428	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16891431	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16891435	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16891439	1.00[AMR][1000 genomes]
rs2076515	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs2281339	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2281341	0.98[ASN][1000 genomes]
rs2281344	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56800988	0.89[ASN][1000 genomes]
rs58473344	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59339583	0.89[ASN][1000 genomes]
rs60464866	1.00[AMR][1000 genomes]
rs60831909	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv1028088	chr6:38821047-39163549	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv538205	chr6:38821047-39163549	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv885821	chr6:38843970-39039503	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv948357	chr6:38920998-39035836	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1027064	chr6:38984374-39034516	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv1801734	chr6:38986164-39034484	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr6:38986000-38993600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:38989400-38994000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr6:38989400-38996600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr6:38989800-38996800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr6:38992000-38994200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:38992400-38999200	Weak transcription	Right Atrium	heart

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