Variant report

Variant	rs73046822
Chromosome Location	chr1:172290476-172290477
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:172290323..172292944-chr1:172297056..172298732,2	MCF-7	breast:
2	chr1:172223489..172225833-chr1:172289738..172293302,4	MCF-7	breast:
3	chr1:172063383..172065738-chr1:172289085..172291783,2	MCF-7	breast:
4	chr1:172253395..172255527-chr1:172290385..172292894,2	MCF-7	breast:
5	chr1:172244510..172246522-chr1:172290374..172293118,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10489288	0.87[AMR][1000 genomes]
rs13376215	0.87[AMR][1000 genomes]
rs16844117	0.87[AMR][1000 genomes]
rs16844148	0.87[AMR][1000 genomes]
rs16844156	0.87[AMR][1000 genomes]
rs16844256	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57725120	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58338897	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60732555	0.87[AMR][1000 genomes]
rs73030908	0.87[AMR][1000 genomes]
rs73030919	0.87[AMR][1000 genomes]
rs73030924	0.87[AMR][1000 genomes]
rs73030947	1.00[EUR][1000 genomes]
rs73043093	0.87[AMR][1000 genomes]
rs73044900	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046803	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046814	1.00[EUR][1000 genomes]
rs73046815	1.00[EUR][1000 genomes]
rs73046816	1.00[EUR][1000 genomes]
rs73046821	1.00[EUR][1000 genomes]
rs73046825	1.00[EUR][1000 genomes]
rs73046977	0.87[AMR][1000 genomes]
rs73046981	0.87[AMR][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	nsv1006542	chr1:172253765-172304690	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172272600-172291600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:172275200-172309800	Weak transcription	Left Ventricle	heart
3	chr1:172289600-172293200	Enhancers	Fetal Kidney	kidney
4	chr1:172289800-172290600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:172289800-172290600	Flanking Active TSS	HUVEC	blood vessel
6	chr1:172289800-172290600	Flanking Active TSS	NH-A	brain
7	chr1:172289800-172291000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:172289800-172291200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:172289800-172291200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:172289800-172291200	Enhancers	Adipose Nuclei	Adipose
11	chr1:172289800-172291200	Flanking Active TSS	A549	lung
12	chr1:172289800-172291200	Enhancers	Hela-S3	cervix
13	chr1:172289800-172291400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:172289800-172291400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:172289800-172291400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:172289800-172291400	Enhancers	Colon Smooth Muscle	Colon
17	chr1:172289800-172291400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr1:172289800-172291400	Enhancers	HSMM	muscle
19	chr1:172289800-172291600	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr1:172289800-172291800	Enhancers	Fetal Lung	lung
21	chr1:172289800-172291800	Enhancers	Rectal Smooth Muscle	rectum
22	chr1:172289800-172292800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr1:172289800-172293200	Enhancers	Ovary	ovary
24	chr1:172289800-172293400	Enhancers	Fetal Muscle Leg	muscle
25	chr1:172289800-172295200	Enhancers	Fetal Stomach	stomach
26	chr1:172290000-172291000	Enhancers	NHEK	skin
27	chr1:172290000-172291800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:172290000-172292400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr1:172290000-172292400	Enhancers	Brain Hippocampus Middle	brain
30	chr1:172290200-172290600	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr1:172290200-172290800	Enhancers	Fetal Brain Male	brain
32	chr1:172290200-172291000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:172290200-172291000	Flanking Active TSS	Osteobl	bone
34	chr1:172290200-172291400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:172290200-172291400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:172290200-172291400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr1:172290200-172291400	Enhancers	HMEC	breast
38	chr1:172290200-172291600	Enhancers	NHLF	lung
39	chr1:172290200-172292200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr1:172290200-172292800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:172290200-172295600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:172290400-172290600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:172290400-172290600	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr1:172290400-172290600	Enhancers	Fetal Brain Female	brain
45	chr1:172290400-172290600	Enhancers	Placenta Amnion	Placenta Amnion
46	chr1:172290400-172292200	Flanking Active TSS	HSMMtube	muscle
47	chr1:172290400-172292200	Flanking Active TSS	NHDF-Ad	bronchial

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