Variant report

Variant	rs12095492
Chromosome Location	chr1:85065565-85065566
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85065241..85066819-chr1:85068863..85070458,2	K562	blood:
2	chr1:85060422..85063217-chr1:85063481..85066367,2	K562	blood:

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	1.00[EUR][1000 genomes]
rs11164013	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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12058978	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	0.85[AFR][1000 genomes];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]
rs12095537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12096153	0.81[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]
rs3768248	0.87[ASN][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]
rs7547026	0.81[ASN][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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85051000-85069800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:85062800-85066800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:85064200-85065600	Enhancers	Brain Angular Gyrus	brain
4	chr1:85064200-85065600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:85064200-85065800	Flanking Active TSS	GM12878-XiMat	blood
6	chr1:85064400-85065800	Enhancers	Rectal Smooth Muscle	rectum
7	chr1:85064400-85066000	Enhancers	HMEC	breast
8	chr1:85064400-85066000	Enhancers	NHEK	skin
9	chr1:85064400-85066400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:85064600-85065600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr1:85064600-85066000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:85064600-85066200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:85064800-85065600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:85064800-85065600	Enhancers	Fetal Muscle Leg	muscle
15	chr1:85064800-85065600	Enhancers	Left Ventricle	heart
16	chr1:85064800-85065800	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr1:85064800-85065800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr1:85064800-85066200	Enhancers	Fetal Heart	heart
19	chr1:85064800-85067000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:85065000-85065600	Active TSS	Stomach Smooth Muscle	stomach
21	chr1:85065000-85065800	Enhancers	Aorta	Aorta
22	chr1:85065000-85066400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:85065000-85066400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:85065200-85066000	Enhancers	NHLF	lung
25	chr1:85065200-85066200	Enhancers	HSMMtube	muscle
26	chr1:85065400-85065600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:85065400-85065600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:85065400-85065600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:85065400-85065600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:85065400-85065600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:85065400-85065600	Flanking Active TSS	Hela-S3	cervix
32	chr1:85065400-85065600	Flanking Active TSS	HUVEC	blood vessel
33	chr1:85065400-85065600	Flanking Active TSS	NH-A	brain
34	chr1:85065400-85065800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:85065400-85065800	Enhancers	Brain Hippocampus Middle	brain
36	chr1:85065400-85065800	Weak transcription	Colon Smooth Muscle	Colon
37	chr1:85065400-85065800	Flanking Active TSS	HSMM	muscle
38	chr1:85065400-85065800	Flanking Active TSS	NHDF-Ad	bronchial
39	chr1:85065400-85065800	Flanking Active TSS	Osteobl	bone

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