Variant report

Variant	rs73345110
Chromosome Location	chr8:125266529-125266530
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125265004..125267316-chr8:125282668..125285036,2	MCF-7	breast:
2	chr8:125262569..125264078-chr8:125265107..125266677,2	K562	blood:
3	chr8:125265421..125269715-chr8:125283208..125285335,3	MCF-7	breast:
4	chr8:125262127..125264204-chr8:125266153..125270131,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253227	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10087001	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10087062	0.81[ASN][1000 genomes]
rs10087137	0.81[ASN][1000 genomes]
rs10087222	0.81[ASN][1000 genomes]
rs10087374	0.81[ASN][1000 genomes]
rs10089870	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10092616	0.83[ASN][1000 genomes]
rs13439443	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16899475	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17295226	0.83[ASN][1000 genomes]
rs17295548	0.81[ASN][1000 genomes]
rs17360690	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17360711	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17360746	0.83[ASN][1000 genomes]
rs17360788	0.83[ASN][1000 genomes]
rs17361004	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28371029	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4374970	0.82[ASN][1000 genomes]
rs4871476	0.83[ASN][1000 genomes]
rs4871477	0.83[ASN][1000 genomes]
rs4871478	0.83[ASN][1000 genomes]
rs4871480	0.82[ASN][1000 genomes]
rs4871481	0.82[ASN][1000 genomes]
rs4871482	0.82[ASN][1000 genomes]
rs4871483	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55764180	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55932688	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56068026	0.81[ASN][1000 genomes]
rs56218959	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56234976	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56245645	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56383080	0.80[ASN][1000 genomes]
rs60995425	0.83[ASN][1000 genomes]
rs66961607	0.84[ASN][1000 genomes]
rs67712436	0.85[ASN][1000 genomes]
rs68047305	0.85[ASN][1000 genomes]
rs6983392	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6984642	0.82[ASN][1000 genomes]
rs6984921	0.82[ASN][1000 genomes]
rs6988141	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7003238	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7011052	0.83[ASN][1000 genomes]
rs7011213	0.83[ASN][1000 genomes]
rs7011528	0.83[ASN][1000 genomes]
rs73330303	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73330304	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73345113	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73345158	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73345172	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73345176	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73345185	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9297693	0.82[ASN][1000 genomes]
rs9643192	0.82[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
rs73345110	RP11-383J24.1	cis	Muscle Skeletal	GTEx

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125250400-125267600	Weak transcription	Fetal Heart	heart
2	chr8:125258400-125282800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:125259600-125273800	Weak transcription	Left Ventricle	heart
4	chr8:125260000-125268400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr8:125260000-125269400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr8:125260200-125266600	Weak transcription	A549	lung
7	chr8:125261800-125266800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:125263600-125268600	Enhancers	HUVEC	blood vessel
9	chr8:125263600-125270800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr8:125264200-125266600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr8:125264200-125267200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr8:125264200-125268600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr8:125264200-125272600	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr8:125264200-125273000	Weak transcription	Primary T cells from cord blood	blood
15	chr8:125264400-125272200	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr8:125264400-125272600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr8:125264600-125266600	Weak transcription	Fetal Intestine Small	intestine
18	chr8:125265400-125266800	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr8:125265400-125267000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:125265400-125267200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:125265400-125268800	Enhancers	Adipose Nuclei	Adipose
22	chr8:125265600-125266600	Weak transcription	Hela-S3	cervix
23	chr8:125265800-125268600	Weak transcription	Placenta	Placenta
24	chr8:125266000-125266800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:125266000-125267600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr8:125266200-125266800	Enhancers	Gastric	stomach
27	chr8:125266200-125267200	Enhancers	Pancreas	Pancrea
28	chr8:125266200-125267200	Enhancers	Spleen	Spleen
29	chr8:125266200-125268000	Enhancers	Fetal Intestine Large	intestine
30	chr8:125266200-125268400	Enhancers	NHDF-Ad	bronchial
31	chr8:125266200-125269800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:125266200-125270000	Enhancers	Primary B cells from cord blood	blood
33	chr8:125266200-125271000	Enhancers	Primary B cells from peripheral blood	blood
34	chr8:125266400-125266800	Weak transcription	GM12878-XiMat	blood
35	chr8:125266400-125267200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:125266400-125267200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr8:125266400-125267600	Enhancers	Brain Hippocampus Middle	brain
38	chr8:125266400-125268000	Enhancers	HSMM	muscle
39	chr8:125266400-125268600	Enhancers	Primary hematopoietic stem cells	blood

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