Variant report

Variant	rs12058978
Chromosome Location	chr1:85047758-85047759
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:85046450..85049039-chr1:85062565..85064761,2	K562	blood:
2	chr1:84944451..84947058-chr1:85044962..85047823,2	K562	blood:
3	chr1:85038924..85041180-chr1:85047534..85050087,3	K562	blood:
4	chr1:85035171..85039138-chr1:85044940..85048929,5	K562	blood:
5	chr1:84973183..84975597-chr1:85046521..85049495,2	K562	blood:
6	chr1:85047686..85049603-chr1:85052404..85054227,2	MCF-7	breast:
7	chr1:84967877..84970067-chr1:85047454..85049794,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPF1-2	chr1:85047609-85049506	NONHSAT004219

No data

Variant related genes	Relation type
ENSG00000117151	Chromatin interaction
ENSG00000174021	Chromatin interaction
ENSG00000117133	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11163998	1.00[EUR][1000 genomes]
rs11164002	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11164011	0.95[AFR][1000 genomes]
rs11164012	0.95[AFR][1000 genomes]
rs11164013	0.91[AFR][1000 genomes];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[AFR][1000 genomes];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]
rs12070049	1.00[AMR][1000 genomes];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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12095537	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12096153	0.87[AFR][1000 genomes];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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85040000-85049400	Weak transcription	Spleen	Spleen
2	chr1:85040600-85048400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:85040800-85048200	Weak transcription	Primary B cells from cord blood	blood
4	chr1:85040800-85048600	Weak transcription	Gastric	stomach
5	chr1:85040800-85049200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:85041000-85048600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:85041000-85048800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:85041000-85051600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:85041200-85049400	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr1:85041400-85049200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:85042800-85048600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr1:85043000-85050800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:85044200-85050800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr1:85045200-85048800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr1:85046400-85047800	Enhancers	K562	blood
16	chr1:85046800-85049200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:85047000-85048800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:85047200-85049200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:85047400-85049600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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