Variant report

Variant	rs74144273
Chromosome Location	chr1:221632344-221632345
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11118722	0.90[AMR][1000 genomes]
rs11118732	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12060136	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12064492	1.00[EUR][1000 genomes]
rs12084674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12086056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12086082	1.00[AMR][1000 genomes]
rs12093693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56672336	1.00[AMR][1000 genomes]
rs74144267	1.00[EUR][1000 genomes]
rs74144282	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221615600-221635000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:221629800-221633200	Enhancers	Fetal Lung	lung
3	chr1:221631000-221632400	Enhancers	Fetal Stomach	stomach
4	chr1:221631000-221632400	Enhancers	HSMMtube	muscle
5	chr1:221631000-221632400	Enhancers	NHLF	lung
6	chr1:221631000-221632600	Enhancers	Rectal Smooth Muscle	rectum
7	chr1:221631000-221632600	Enhancers	Hela-S3	cervix
8	chr1:221631000-221632600	Enhancers	HSMM	muscle
9	chr1:221631000-221632800	Enhancers	Colon Smooth Muscle	Colon
10	chr1:221631400-221632600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr1:221631600-221632400	Flanking Active TSS	NHDF-Ad	bronchial
12	chr1:221631600-221632600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:221631600-221632600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:221631800-221632600	Enhancers	Adipose Nuclei	Adipose
15	chr1:221631800-221632600	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr1:221631800-221632600	Enhancers	Fetal Kidney	kidney
17	chr1:221631800-221634400	Weak transcription	Psoas Muscle	Psoas
18	chr1:221632000-221632600	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr1:221632000-221633000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:221632000-221635600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:221632200-221632400	Enhancers	Stomach Smooth Muscle	stomach
22	chr1:221632200-221632600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:221632200-221633000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:221632200-221635200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:221632200-221635600	Weak transcription	Osteobl	bone
26	chr1:221632200-221636200	Enhancers	Skeletal Muscle Female	skeletal muscle

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