Variant report

Variant	rs2143082
Chromosome Location	chr6:27601587-27601588
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:27599473..27601723-chr6:27802439..27805045,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1028311	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs10946943	0.80[CEU][hapmap]
rs1157432	0.80[CEU][hapmap]
rs2142704	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs2142706	0.80[CEU][hapmap]
rs4711157	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs4713114	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60096640	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6456795	0.90[CHD][hapmap];0.84[JPT][hapmap]
rs6456798	0.81[EUR][1000 genomes]
rs6903016	0.94[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs6908024	0.81[EUR][1000 genomes]
rs6911283	0.81[EUR][1000 genomes]
rs6917366	0.89[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6920044	0.80[CEU][hapmap]
rs6934295	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs6936999	0.89[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs73739763	0.90[EUR][1000 genomes]
rs7763685	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs9357044	0.80[CEU][hapmap]
rs9366694	0.94[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs9366698	0.87[ASN][1000 genomes]
rs9368524	0.80[CEU][hapmap]
rs9379995	0.88[EUR][1000 genomes]
rs9380001	0.80[CEU][hapmap]
rs9380002	0.93[ASN][1000 genomes]
rs9380003	0.93[ASN][1000 genomes]
rs9380006	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9393826	0.90[CEU][hapmap]
rs9393832	0.90[CEU][hapmap];0.91[EUR][1000 genomes]
rs9393835	0.90[EUR][1000 genomes]
rs9393836	0.90[EUR][1000 genomes]
rs9393838	0.90[EUR][1000 genomes]
rs9393839	0.90[EUR][1000 genomes]
rs9461392	0.81[EUR][1000 genomes]
rs9468157	0.90[CEU][hapmap]
rs9468158	0.81[EUR][1000 genomes]
rs970668	0.90[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv1030256	chr6:27477726-27605842	Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1025862	chr6:27480227-27605321	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv1017347	chr6:27483816-27605842	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv1025572	chr6:27487852-27604454	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv538167	chr6:27487852-27604454	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv883510	chr6:27550712-27730064	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	nsv1023673	chr6:27570731-27688782	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
9	nsv830618	chr6:27593274-27789605	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
10	nsv1031337	chr6:27596676-27734884	Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2143082	HIST1H2BE	cis	cerebellum	SCAN
rs2143082	LRRC16A	cis	cerebellum	SCAN
rs2143082	ZSCAN23	cis	cerebellum	SCAN
rs2143082	ZNF391	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27601200-27601800	Flanking Active TSS	A549	lung
2	chr6:27601400-27601800	Enhancers	K562	blood

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