Variant report

Variant	rs74124050
Chromosome Location	chr1:172289885-172289886
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:172223489..172225833-chr1:172289738..172293302,4	MCF-7	breast:
2	chr1:172063383..172065738-chr1:172289085..172291783,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16843882	1.00[AMR][1000 genomes]
rs16844215	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55690470	1.00[AMR][1000 genomes]
rs56109092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56189708	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56239164	1.00[AMR][1000 genomes]
rs56401358	1.00[AMR][1000 genomes]
rs57282950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58479172	1.00[AMR][1000 genomes]
rs59207214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7541934	0.85[AFR][1000 genomes];1.00[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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172256200-172290000	Weak transcription	Brain Hippocampus Middle	brain
2	chr1:172256400-172290200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:172272600-172291600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:172275200-172309800	Weak transcription	Left Ventricle	heart
5	chr1:172289600-172293200	Enhancers	Fetal Kidney	kidney
6	chr1:172289800-172290000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr1:172289800-172290000	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr1:172289800-172290000	Enhancers	Fetal Muscle Trunk	muscle
9	chr1:172289800-172290000	Flanking Active TSS	Osteobl	bone
10	chr1:172289800-172290200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:172289800-172290200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:172289800-172290200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:172289800-172290400	Enhancers	NHDF-Ad	bronchial
14	chr1:172289800-172290600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:172289800-172290600	Flanking Active TSS	HUVEC	blood vessel
16	chr1:172289800-172290600	Flanking Active TSS	NH-A	brain
17	chr1:172289800-172291000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:172289800-172291200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:172289800-172291200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:172289800-172291200	Enhancers	Adipose Nuclei	Adipose
21	chr1:172289800-172291200	Flanking Active TSS	A549	lung
22	chr1:172289800-172291200	Enhancers	Hela-S3	cervix
23	chr1:172289800-172291400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:172289800-172291400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:172289800-172291400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:172289800-172291400	Enhancers	Colon Smooth Muscle	Colon
27	chr1:172289800-172291400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr1:172289800-172291400	Enhancers	HSMM	muscle
29	chr1:172289800-172291600	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr1:172289800-172291800	Enhancers	Fetal Lung	lung
31	chr1:172289800-172291800	Enhancers	Rectal Smooth Muscle	rectum
32	chr1:172289800-172292800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr1:172289800-172293200	Enhancers	Ovary	ovary
34	chr1:172289800-172293400	Enhancers	Fetal Muscle Leg	muscle
35	chr1:172289800-172295200	Enhancers	Fetal Stomach	stomach

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