Variant report

Variant	rs62142163
Chromosome Location	chr2:30877453-30877454
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	chr2:30859134..30861368-chr2:30876511..30879135,2	K562	blood:
2	chr2:30872918..30875377-chr2:30876249..30879009,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12999917	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13024015	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1447186	0.88[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1447187	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1470533	0.93[ASN][1000 genomes]
rs1470534	0.93[ASN][1000 genomes]
rs1470536	0.93[ASN][1000 genomes]
rs1869429	0.91[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2593458	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2593459	0.84[ASN][1000 genomes]
rs2593460	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2593461	0.93[ASN][1000 genomes]
rs2593462	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2593464	0.91[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2593465	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2593466	0.93[ASN][1000 genomes]
rs2602780	0.91[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2602782	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2602783	0.93[ASN][1000 genomes]
rs2602784	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2602785	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2602786	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2602789	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2602790	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2602791	0.93[ASN][1000 genomes]
rs2602792	0.93[ASN][1000 genomes]
rs2602798	0.82[AFR][1000 genomes]
rs2609917	0.88[AFR][1000 genomes]
rs2609952	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2609955	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2609956	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2609958	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs57203147	0.80[AFR][1000 genomes]
rs895662	0.93[ASN][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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30845600-30877800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:30845800-30877800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:30860400-30878200	Weak transcription	NHLF	lung
4	chr2:30863600-30882200	Weak transcription	Ovary	ovary
5	chr2:30865200-30878200	Weak transcription	A549	lung
6	chr2:30869200-30878000	Weak transcription	Psoas Muscle	Psoas
7	chr2:30872400-30878200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:30872400-30878200	Weak transcription	Left Ventricle	heart
9	chr2:30872600-30877600	Weak transcription	HSMMtube	muscle
10	chr2:30875200-30879400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:30875800-30877600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:30876200-30879600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:30876400-30878000	Enhancers	HSMM	muscle
14	chr2:30876400-30879200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr2:30876400-30879800	Enhancers	Fetal Muscle Leg	muscle
16	chr2:30876400-30879800	Enhancers	NHDF-Ad	bronchial
17	chr2:30876400-30880000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:30876600-30878000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr2:30876600-30879400	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr2:30876800-30879000	Enhancers	Fetal Muscle Trunk	muscle
21	chr2:30877400-30877800	Weak transcription	Fetal Heart	heart
22	chr2:30877400-30877800	Weak transcription	NH-A	brain
23	chr2:30877400-30878400	Weak transcription	Osteobl	bone

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