Variant report

Variant	rs12047422
Chromosome Location	chr1:85848830-85848831
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85839312..85843099-chr1:85847023..85851233,3	K562	blood:

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs1001604	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10489513	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11161606	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11161607	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11161610	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11161611	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1146379	0.82[EUR][1000 genomes]
rs12044537	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12124170	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12125557	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12140103	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1498373	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1498375	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1554597	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs173026	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs18582	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1884139	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2011825	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2012683	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2177461	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2207368	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2268667	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2300634	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2300637	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233047	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233050	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs233053	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs233054	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233055	0.80[EUR][1000 genomes]
rs233057	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs233058	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs233059	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs233060	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs233061	0.85[EUR][1000 genomes]
rs233062	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs233066	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233067	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233068	0.86[EUR][1000 genomes]
rs233069	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233071	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs233072	0.86[EUR][1000 genomes]
rs233074	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs233091	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233093	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233095	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233097	0.86[EUR][1000 genomes]
rs233099	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233108	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233109	0.85[EUR][1000 genomes]
rs233112	0.84[EUR][1000 genomes]
rs233113	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233114	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233115	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233118	0.84[EUR][1000 genomes]
rs233119	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233120	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233121	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233124	0.84[EUR][1000 genomes]
rs233127	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs233130	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs233131	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs233132	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs233133	0.85[EUR][1000 genomes]
rs2840319	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2892888	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3087894	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3768227	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3920521	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3949301	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs423105	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4949890	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4949900	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs506082	0.88[EUR][1000 genomes]
rs6576761	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6576763	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6576764	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6576765	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6576766	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6576767	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6657817	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6671599	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66811655	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6704103	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67611930	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724606	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs729655	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7547571	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs761601	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs997251	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1008877	chr1:85843238-85897570	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85839800-85864200	Weak transcription	Aorta	Aorta
2	chr1:85841200-85851400	Weak transcription	Pancreas	Pancrea
3	chr1:85841200-85859800	Weak transcription	NH-A	brain
4	chr1:85842000-85850800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:85845000-85852800	Strong transcription	Osteobl	bone
6	chr1:85845000-85870000	Weak transcription	HSMMtube	muscle
7	chr1:85845800-85859800	Weak transcription	NHLF	lung
8	chr1:85846200-85852800	Strong transcription	HSMM	muscle
9	chr1:85846400-85850400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:85847200-85850200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:85847600-85849400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:85847600-85849600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
13	chr1:85847800-85849600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:85847800-85850000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:85848000-85849000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:85848000-85849000	ZNF genes & repeats	NHDF-Ad	bronchial
17	chr1:85848000-85849200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:85848000-85849400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:85848200-85849400	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr1:85848400-85850800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:85848600-85851600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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