Variant report

Variant	rs72863091
Chromosome Location	chr2:30878841-30878842
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30859134..30861368-chr2:30876511..30879135,2	K562	blood:
2	chr2:30872918..30875377-chr2:30876249..30879009,2	K562	blood:
3	chr2:30855476..30857973-chr2:30878238..30880495,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs58730941	0.92[AFR][1000 genomes]
rs59228351	0.83[AFR][1000 genomes]
rs6718986	0.81[AFR][1000 genomes]
rs6738751	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6747522	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72858990	0.92[AFR][1000 genomes]
rs72863005	0.84[AFR][1000 genomes]
rs72863019	0.90[AFR][1000 genomes]
rs72863050	0.88[AFR][1000 genomes]
rs72863089	1.00[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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30863600-30882200	Weak transcription	Ovary	ovary
2	chr2:30875200-30879400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:30876200-30879600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:30876400-30879200	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr2:30876400-30879800	Enhancers	Fetal Muscle Leg	muscle
6	chr2:30876400-30879800	Enhancers	NHDF-Ad	bronchial
7	chr2:30876400-30880000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:30876600-30879400	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr2:30876800-30879000	Enhancers	Fetal Muscle Trunk	muscle
10	chr2:30877600-30879000	Enhancers	HSMMtube	muscle
11	chr2:30877800-30879000	Enhancers	Placenta	Placenta
12	chr2:30877800-30879200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:30877800-30879200	Enhancers	Fetal Heart	heart
14	chr2:30877800-30879400	Enhancers	NH-A	brain
15	chr2:30877800-30879800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:30878000-30879200	Enhancers	Psoas Muscle	Psoas
17	chr2:30878000-30879400	Enhancers	K562	blood
18	chr2:30878200-30879000	Enhancers	Fetal Stomach	stomach
19	chr2:30878200-30879000	Enhancers	A549	lung
20	chr2:30878200-30879400	Enhancers	Left Ventricle	heart
21	chr2:30878200-30879400	Enhancers	NHLF	lung
22	chr2:30878400-30879400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:30878400-30879400	Enhancers	Osteobl	bone
24	chr2:30878400-30881200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:30878600-30879000	Enhancers	HSMM	muscle
26	chr2:30878800-30879200	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr2:30878800-30879200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:30878800-30879400	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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