Variant report

Variant	rs72847323
Chromosome Location	chr6:27744490-27744491
allele	A/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:27461978..27463563-chr6:27744301..27746788,2	K562	blood:
2	chr6:27738868..27742221-chr6:27743370..27745719,4	MCF-7	breast:
3	chr6:27519208..27521842-chr6:27743894..27746094,2	K562	blood:
4	chr6:27483274..27486299-chr6:27743798..27746075,3	K562	blood:
5	chr6:27114542..27117845-chr6:27741589..27745932,6	K562	blood:
6	chr6:27100048..27102591-chr6:27743747..27745721,2	K562	blood:
7	chr6:27100313..27102591-chr6:27743747..27746593,3	K562	blood:
8	chr6:27113969..27118292-chr6:27739764..27746039,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000124635	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000265565	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs17693877	0.95[EUR][1000 genomes]
rs34144478	0.82[EUR][1000 genomes]
rs41269275	0.82[EUR][1000 genomes]
rs72845016	0.87[AMR][1000 genomes]
rs72845032	0.87[AMR][1000 genomes]
rs72845050	1.00[AFR][1000 genomes]
rs72845058	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72845060	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72845061	0.88[EUR][1000 genomes]
rs72845062	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72845064	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72845068	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72845896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72847322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72847329	0.95[EUR][1000 genomes]
rs72847332	0.86[EUR][1000 genomes]
rs72847342	0.81[EUR][1000 genomes]
rs72847343	0.86[EUR][1000 genomes]
rs72847348	0.86[EUR][1000 genomes]
rs72847349	0.86[EUR][1000 genomes]
rs72847355	0.82[EUR][1000 genomes]
rs72847356	0.82[EUR][1000 genomes]
rs72847361	0.82[EUR][1000 genomes]
rs72847365	0.82[EUR][1000 genomes]
rs72847377	0.82[EUR][1000 genomes]
rs9380018	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	nsv432858	chr6:27719375-28011652	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	387 gene(s)	inside rSNPs	diseases
4	nsv1017440	chr6:27734824-27864277	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	370 gene(s)	inside rSNPs	diseases
5	nsv1022173	chr6:27734824-27959408	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27740200-27745200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:27740400-27745200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:27741200-27744600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:27741800-27744600	Weak transcription	A549	lung
5	chr6:27741800-27744600	Enhancers	K562	blood
6	chr6:27742200-27744800	Weak transcription	HepG2	liver
7	chr6:27743600-27745600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:27743600-27750000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr6:27744200-27746400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:27744400-27744600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:27744400-27744600	Enhancers	GM12878-XiMat	blood
12	chr6:27744400-27744800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr6:27744400-27745200	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr6:27744400-27745600	Enhancers	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links