Variant report

Variant	rs60995425
Chromosome Location	chr8:125267007-125267008
allele	A/C
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	chr8:125265421..125269715-chr8:125283208..125285335,3	MCF-7	breast:
3	chr8:125266902..125269878-chr8:125272603..125275281,2	MCF-7	breast:
4	chr8:125262127..125264204-chr8:125266153..125270131,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253227	Chromatin interaction
ENSG00000206724	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10087001	0.81[ASN][1000 genomes]
rs10087062	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10087137	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10087222	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10087374	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10091808	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10092616	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13439237	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13439439	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16899475	0.84[ASN][1000 genomes]
rs17295226	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17295548	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17360690	0.82[ASN][1000 genomes]
rs17360711	0.83[ASN][1000 genomes]
rs17360746	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17360788	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4374970	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4504618	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4593526	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4871476	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871477	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871478	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871480	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4871481	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4871482	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55784871	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55945711	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56068026	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56383080	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60167901	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66467223	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66961607	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67153514	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67712436	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67815046	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs68047305	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6984141	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6984458	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6984642	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6984921	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6986310	0.89[EUR][1000 genomes]
rs7003974	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7011052	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011213	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011528	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72719397	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73345110	0.83[ASN][1000 genomes]
rs73345113	0.83[ASN][1000 genomes]
rs73345158	0.81[ASN][1000 genomes]
rs7842882	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9297693	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9643192	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9969472	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9969473	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9969475	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9969479	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9969480	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9969624	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[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
rs60995425	RP11-383J24.1	cis	Muscle Skeletal	GTEx

Chromatin state (count:56 , 50 per page) page: 1 2

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	chr8:125263600-125268600	Enhancers	HUVEC	blood vessel
7	chr8:125263600-125270800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr8:125264200-125267200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr8:125264200-125268600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:125264200-125272600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr8:125264200-125273000	Weak transcription	Primary T cells from cord blood	blood
12	chr8:125264400-125272200	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr8:125264400-125272600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr8:125265400-125267200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:125265400-125268800	Enhancers	Adipose Nuclei	Adipose
16	chr8:125265800-125268600	Weak transcription	Placenta	Placenta
17	chr8:125266000-125267600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr8:125266200-125267200	Enhancers	Pancreas	Pancrea
19	chr8:125266200-125267200	Enhancers	Spleen	Spleen
20	chr8:125266200-125268000	Enhancers	Fetal Intestine Large	intestine
21	chr8:125266200-125268400	Enhancers	NHDF-Ad	bronchial
22	chr8:125266200-125269800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:125266200-125270000	Enhancers	Primary B cells from cord blood	blood
24	chr8:125266200-125271000	Enhancers	Primary B cells from peripheral blood	blood
25	chr8:125266400-125267200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:125266400-125267200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:125266400-125267600	Enhancers	Brain Hippocampus Middle	brain
28	chr8:125266400-125268000	Enhancers	HSMM	muscle
29	chr8:125266400-125268600	Enhancers	Primary hematopoietic stem cells	blood
30	chr8:125266600-125267200	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr8:125266600-125267600	Enhancers	Stomach Mucosa	stomach
32	chr8:125266600-125268000	Enhancers	HSMMtube	muscle
33	chr8:125266600-125268000	Enhancers	NHLF	lung
34	chr8:125266600-125268200	Enhancers	A549	lung
35	chr8:125266600-125268200	Enhancers	Hela-S3	cervix
36	chr8:125266600-125268400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:125266600-125268400	Enhancers	Duodenum Mucosa	Duodenum
38	chr8:125266600-125268400	Enhancers	Fetal Kidney	kidney
39	chr8:125266600-125268400	Enhancers	Fetal Muscle Leg	muscle
40	chr8:125266600-125268800	Enhancers	Fetal Intestine Small	intestine
41	chr8:125266800-125267200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:125266800-125267200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr8:125266800-125267400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr8:125266800-125267400	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr8:125266800-125267400	Enhancers	NHEK	skin
46	chr8:125266800-125267600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:125266800-125267800	Weak transcription	Gastric	stomach
48	chr8:125266800-125268000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:125266800-125268000	Enhancers	Osteobl	bone
50	chr8:125266800-125268200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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