Variant report

Variant	rs56947999
Chromosome Location	chr6:131977878-131977879
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:131969715..131972703-chr6:131975983..131978268,3	MCF-7	breast:
2	chr6:131913681..131915624-chr6:131974976..131977947,2	K562	blood:
3	chr6:131975195..131979423-chr6:131980161..131983415,4	MCF-7	breast:
4	chr6:131976024..131978249-chr6:131978401..131982130,4	K562	blood:
5	chr6:131972920..131975695-chr6:131977454..131979633,2	MCF-7	breast:
6	chr6:131947927..131950701-chr6:131977008..131978959,2	K562	blood:

Variant related genes	Relation type
ENSG00000154269	Chromatin interaction
ENSG00000112282	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10457574	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11154642	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12192518	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12193853	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12193980	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12199875	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12204520	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12207523	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12207688	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12210900	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17060552	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2286453	0.93[ASN][1000 genomes]
rs2286454	0.93[ASN][1000 genomes]
rs3213694	0.84[ASN][1000 genomes]
rs3778569	0.80[ASN][1000 genomes]
rs3778570	0.81[ASN][1000 genomes]
rs3778571	0.83[ASN][1000 genomes]
rs3800193	0.83[ASN][1000 genomes]
rs3800194	0.83[ASN][1000 genomes]
rs3800195	0.83[ASN][1000 genomes]
rs3850247	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4126646	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55931014	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60048051	0.94[ASN][1000 genomes]
rs6569753	0.95[ASN][1000 genomes]
rs6901900	0.85[ASN][1000 genomes]
rs6922526	0.85[ASN][1000 genomes]
rs6922673	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6935272	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72999288	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73001214	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73779849	0.84[AFR][1000 genomes]
rs7762879	0.95[ASN][1000 genomes]
rs9321307	0.94[ASN][1000 genomes]
rs9321308	0.92[ASN][1000 genomes]
rs9483311	0.96[ASN][1000 genomes]
rs9483321	0.85[ASN][1000 genomes]
rs9493038	0.97[ASN][1000 genomes]
rs9493042	0.94[ASN][1000 genomes]
rs9493046	0.95[ASN][1000 genomes]
rs9493048	0.94[ASN][1000 genomes]
rs9493050	0.85[ASN][1000 genomes]
rs9493057	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv515476	chr6:131615425-132228577	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv7968	chr6:131917172-132321099	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv830809	chr6:131953928-132126417	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	nsv830810	chr6:131960923-132138396	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131949800-131983200	Weak transcription	Aorta	Aorta
2	chr6:131972200-131981600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:131974200-131978000	Weak transcription	K562	blood
4	chr6:131974200-131981400	Weak transcription	NH-A	brain
5	chr6:131974400-131992400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr6:131975200-132008200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr6:131976000-131978600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:131976000-131996600	Weak transcription	Fetal Intestine Large	intestine
9	chr6:131976200-131996800	Weak transcription	Fetal Intestine Small	intestine
10	chr6:131976600-131981400	Weak transcription	HMEC	breast
11	chr6:131977000-131988000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr6:131977000-131997000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr6:131977600-131978600	Weak transcription	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links