Variant report

Variant	rs4130805
Chromosome Location	chr8:49084580-49084581
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:49033433..49034632-chr8:49084511..49085096,3	MCF-7	breast:
2	chr8:49084383..49085325-chr8:49233271..49234265,2	K562	blood:
3	chr8:49084388..49085321-chr8:49837765..49838724,3	MCF-7	breast:
4	chr8:49084485..49085310-chr8:49837868..49838738,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10086138	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10103627	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10106082	0.95[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10216585	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10453133	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12155855	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12682398	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13252104	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13265298	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3934733	0.87[ASN][1000 genomes]
rs3934735	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4072343	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4329299	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4375031	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4433176	0.91[ASN][1000 genomes]
rs4526384	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4633086	0.88[ASN][1000 genomes]
rs67441342	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6993968	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7000484	0.90[ASN][1000 genomes]
rs71548453	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7816616	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7820720	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7830031	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7844929	0.82[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9298548	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9657169	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931032	chr8:48744329-49091359	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv831310	chr8:49080177-49256440	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv611307	chr8:49081709-49093889	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49080200-49084600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:49082400-49086600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:49082600-49088400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:49084200-49085400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:49084400-49084800	Enhancers	Osteobl	bone
6	chr8:49084400-49085200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:49084400-49085200	Enhancers	NHLF	lung
8	chr8:49084400-49085400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:49084400-49085400	Enhancers	Fetal Muscle Leg	muscle
10	chr8:49084400-49085600	Enhancers	Fetal Muscle Trunk	muscle
11	chr8:49084400-49086400	Enhancers	Fetal Lung	lung
12	chr8:49084400-49090600	Enhancers	Fetal Stomach	stomach

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