Variant report

Variant	rs60167901
Chromosome Location	chr8:125281636-125281637
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr8:125281511-125283066	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:125274766..125276637-chr8:125281262..125283690,2	MCF-7	breast:
2	chr8:125277499..125279728-chr8:125280833..125283202,2	MCF-7	breast:
3	chr8:125279696..125281891-chr8:125285481..125287551,2	K562	blood:
4	chr8:125280139..125282086-chr8:125282915..125284944,2	K562	blood:
5	chr8:125280886..125282732-chr8:125291409..125294127,2	MCF-7	breast:
6	chr8:125279807..125281757-chr8:125384841..125386364,2	MCF-7	breast:
7	chr8:125281056..125283000-chr8:125291511..125293598,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253227	TF binding region
ENSG00000164983	Chromatin interaction
ENSG00000253227	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10087062	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10087137	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10087222	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10087374	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10091808	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10092616	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13439237	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13439439	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13439443	0.81[ASN][1000 genomes]
rs17295226	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17295548	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17360746	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17360788	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4374970	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4504618	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4593526	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4871476	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4871477	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4871478	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4871480	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4871481	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4871482	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55784871	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55945711	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56068026	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56218959	0.89[ASN][1000 genomes]
rs56234976	0.82[ASN][1000 genomes]
rs56383080	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60995425	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66467223	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66961607	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67153514	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67712436	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67815046	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs68047305	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6984141	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6984458	0.96[EUR][1000 genomes]
rs6984642	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6984921	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6986310	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7003974	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7011052	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7011213	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7011528	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72719397	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73330303	0.82[ASN][1000 genomes]
rs73330304	0.82[ASN][1000 genomes]
rs73345185	0.82[ASN][1000 genomes]
rs7842882	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9297693	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9643192	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9969472	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9969473	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9969475	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9969479	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9969480	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9969624	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][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	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs60167901	RP11-383J24.1	cis	Muscle Skeletal	GTEx

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125258400-125282800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:125274800-125287400	Weak transcription	Fetal Brain Male	brain
3	chr8:125275400-125282800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:125279200-125282200	Enhancers	A549	lung
5	chr8:125279400-125284000	Weak transcription	Right Ventricle	heart
6	chr8:125279600-125282400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:125279600-125282800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:125280000-125282600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:125280400-125284000	Weak transcription	Pancreas	Pancrea
10	chr8:125280400-125284000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr8:125280600-125282800	Weak transcription	HUVEC	blood vessel
12	chr8:125281000-125283600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:125281200-125281800	Enhancers	Fetal Intestine Small	intestine
14	chr8:125281200-125282000	Enhancers	Fetal Heart	heart
15	chr8:125281200-125282200	Enhancers	Primary B cells from peripheral blood	blood
16	chr8:125281200-125284400	Enhancers	Fetal Intestine Large	intestine
17	chr8:125281200-125284600	Enhancers	Psoas Muscle	Psoas
18	chr8:125281400-125281800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:125281400-125282200	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr8:125281600-125282800	Weak transcription	Left Ventricle	heart
21	chr8:125281600-125282800	Enhancers	Hela-S3	cervix
22	chr8:125281600-125282800	Weak transcription	HSMMtube	muscle
23	chr8:125281600-125283600	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr8:125281600-125284000	Enhancers	K562	blood
25	chr8:125281600-125284200	Weak transcription	Right Atrium	heart
26	chr8:125281600-125285000	Enhancers	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links