Variant report

Variant	rs2064092
Chromosome Location	chr6:27511371-27511372
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:27495180..27505101-chr6:27505644..27514408,17	K562	blood:
2	chr6:27509784..27512819-chr6:27512944..27517830,7	K562	blood:
3	chr6:27223940..27226636-chr6:27509869..27512543,2	K562	blood:
4	chr6:27114656..27118341-chr6:27511078..27513323,4	K562	blood:
5	chr6:27510052..27512448-chr6:27861150..27862744,2	K562	blood:
6	chr6:27468932..27472099-chr6:27510680..27513985,4	K562	blood:
7	chr6:27201297..27203318-chr6:27510995..27513466,2	K562	blood:
8	chr6:27114696..27118355-chr6:27509086..27513263,4	K562	blood:
9	chr6:27505182..27508464-chr6:27511316..27513400,5	K562	blood:
10	chr6:27510934..27513659-chr6:27719612..27722020,2	K562	blood:
11	chr6:27484584..27488332-chr6:27510718..27517448,9	K562	blood:
12	chr6:27510787..27512646-chr6:27863086..27864920,2	K562	blood:

No data

No data

No data

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12213055	0.89[JPT][hapmap]
rs1555040	0.81[CHD][hapmap];0.89[JPT][hapmap]
rs16867857	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17688516	0.88[JPT][hapmap]
rs17739702	0.89[JPT][hapmap]
rs17739727	0.81[CHD][hapmap];0.89[JPT][hapmap]
rs2056923	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs6903982	0.85[ASN][1000 genomes]
rs6907861	0.85[ASN][1000 genomes]
rs9468076	0.81[CHD][hapmap];0.89[JPT][hapmap]
rs9468149	0.82[ASW][hapmap];0.85[CEU][hapmap];0.81[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs9468152	0.81[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9468153	0.81[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9468154	0.89[ASN][1000 genomes]
rs9468155	0.85[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9468159	0.83[ASW][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.90[YRI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9468168	0.81[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9468174	0.85[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs9468187	0.85[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv830617	chr6:27424769-27598595	Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv462665	chr6:27458013-27547792	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv601203	chr6:27458013-27547792	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	nsv883509	chr6:27492906-27586181	Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv1018107	chr6:27503525-27596736	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	nsv538168	chr6:27503525-27596736	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27501400-27511600	Weak transcription	HMEC	breast
2	chr6:27508000-27511600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:27509200-27512400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:27510000-27511400	Enhancers	K562	blood
5	chr6:27510000-27511600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr6:27510000-27511600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr6:27511200-27511600	Enhancers	A549	lung
8	chr6:27511200-27514000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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