Variant report

Variant	rs12070049
Chromosome Location	chr1:85088235-85088236
allele	A/G
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	chr1:85087799..85089777-chr1:85107656..85110506,2	K562	blood:
2	chr1:85085152..85088621-chr1:85102581..85105385,3	K562	blood:
3	chr1:84606589..84609383-chr1:85086485..85089260,2	MCF-7	breast:
4	chr1:85087266..85090257-chr1:85091189..85093358,2	K562	blood:
5	chr1:85087934..85091159-chr1:85092418..85095457,3	K562	blood:
6	chr1:85038631..85041223-chr1:85086686..85088297,2	K562	blood:
7	chr1:85085136..85087140-chr1:85087403..85088994,2	K562	blood:
8	chr1:84959786..84961700-chr1:85087773..85090482,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000232622	Chromatin interaction
ENSG00000117151	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11163998	1.00[EUR][1000 genomes]
rs11164002	1.00[EUR][1000 genomes]
rs11164013	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11164022	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11164024	1.00[EUR][1000 genomes]
rs11164025	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11807815	1.00[EUR][1000 genomes]
rs12058889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12058978	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12059657	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12068340	1.00[EUR][1000 genomes]
rs12075688	1.00[EUR][1000 genomes]
rs12076236	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12077315	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12080425	1.00[EUR][1000 genomes]
rs12084716	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12091312	1.00[EUR][1000 genomes]
rs12092806	1.00[EUR][1000 genomes]
rs12093770	1.00[EUR][1000 genomes]
rs12095492	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12095537	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12096153	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12097619	1.00[EUR][1000 genomes]
rs12354056	1.00[AMR][1000 genomes]
rs1591972	1.00[EUR][1000 genomes]
rs1803276	1.00[EUR][1000 genomes]
rs28667025	1.00[EUR][1000 genomes]
rs28706082	1.00[EUR][1000 genomes]
rs2945131	1.00[EUR][1000 genomes]
rs2945132	1.00[EUR][1000 genomes]
rs2994926	1.00[EUR][1000 genomes]
rs2994927	1.00[EUR][1000 genomes]
rs6665333	1.00[EUR][1000 genomes]
rs6669324	1.00[EUR][1000 genomes]
rs72950312	1.00[EUR][1000 genomes]
rs74096103	1.00[EUR][1000 genomes]
rs74098423	1.00[EUR][1000 genomes]
rs74098426	1.00[EUR][1000 genomes]
rs74098430	1.00[EUR][1000 genomes]
rs74098441	1.00[EUR][1000 genomes]
rs74098442	1.00[EUR][1000 genomes]
rs74098443	1.00[EUR][1000 genomes]
rs74098453	1.00[EUR][1000 genomes]
rs74098454	1.00[EUR][1000 genomes]
rs7532040	1.00[EUR][1000 genomes]
rs7544392	1.00[EUR][1000 genomes]
rs9661833	1.00[EUR][1000 genomes]

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	nsv1000325	chr1:85032605-85100748	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85086800-85091200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:85086800-85098400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:85086800-85100000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:85087000-85089200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:85087000-85089200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:85087000-85147400	Weak transcription	Gastric	stomach
7	chr1:85087400-85089000	Weak transcription	K562	blood

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