Variant report

Variant	rs12547431
Chromosome Location	chr8:125866943-125866944
allele	C/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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125642013..125645236-chr8:125863862..125867426,3	MCF-7	breast:
2	chr8:125858857..125860537-chr8:125866722..125869065,2	K562	blood:
3	chr8:125864651..125867984-chr8:125934838..125937619,3	MCF-7	breast:
4	chr8:125865686..125867784-chr8:125906339..125908713,3	MCF-7	breast:
5	chr8:125866488..125871186-chr8:126008597..126013344,9	MCF-7	breast:
6	chr8:125605123..125607316-chr8:125865948..125867968,2	MCF-7	breast:
7	chr8:125736316..125742243-chr8:125861977..125870763,24	MCF-7	breast:
8	chr8:125568548..125570279-chr8:125865531..125868278,2	MCF-7	breast:
9	chr8:125550224..125552567-chr8:125866024..125869160,3	MCF-7	breast:
10	chr8:125538432..125540496-chr8:125866571..125869379,2	MCF-7	breast:
11	chr8:125861710..125864506-chr8:125866256..125867953,3	K562	blood:
12	chr8:125861710..125864506-chr8:125866256..125868160,3	K562	blood:
13	chr8:125551556..125553845-chr8:125864809..125867694,2	MCF-7	breast:
14	chr8:125734815..125743876-chr8:125864194..125871100,21	MCF-7	breast:
15	chr8:125865723..125867850-chr8:125937365..125941183,3	MCF-7	breast:
16	chr8:125866182..125867847-chr8:126013672..126016606,2	MCF-7	breast:
17	chr8:125865612..125869079-chr8:125880242..125881990,3	K562	blood:
18	chr8:125793631..125795997-chr8:125865108..125867382,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000147684	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000170873	Chromatin interaction
ENSG00000104549	Chromatin interaction
ENSG00000253513	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10093649	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10956219	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956220	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11774426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784930	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11987239	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11990757	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs11994576	0.99[EUR][1000 genomes]
rs11994907	0.99[EUR][1000 genomes]
rs12542397	0.92[CEU][hapmap];0.98[EUR][1000 genomes]
rs12549299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13272895	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28446872	0.91[EUR][1000 genomes]
rs28460087	0.90[EUR][1000 genomes]
rs28597931	0.91[EUR][1000 genomes]
rs28731447	0.83[EUR][1000 genomes]
rs4870928	0.96[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871558	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871560	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871562	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap]
rs6470288	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6470289	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470290	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs6470294	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6470296	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6470313	0.81[CEU][hapmap]
rs6987095	0.96[CEU][hapmap];1.00[TSI][hapmap]
rs6988410	0.99[EUR][1000 genomes]
rs6992468	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015626	0.98[EUR][1000 genomes]
rs7460031	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7463566	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7835994	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7845282	0.81[CEU][hapmap];0.89[TSI][hapmap]
rs9694326	0.96[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125861400-125869000	Weak transcription	Ovary	ovary
2	chr8:125862200-125867200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:125862200-125868000	Weak transcription	HMEC	breast
4	chr8:125863000-125868600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:125863800-125868600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:125863800-125869000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:125865600-125867200	Enhancers	HepG2	liver
8	chr8:125866200-125869000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:125866200-125869400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr8:125866400-125867400	Weak transcription	Lung	lung
11	chr8:125866400-125869000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:125866400-125869000	Weak transcription	Left Ventricle	heart
13	chr8:125866400-125869200	Weak transcription	Esophagus	oesophagus
14	chr8:125866400-125869400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:125866600-125869000	Weak transcription	K562	blood
16	chr8:125866800-125869000	Weak transcription	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links