Variant report

Variant	rs2412494
Chromosome Location	chr4:54633159-54633160
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:54631461..54634039-chr4:54637339..54639127,3	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs55705508	0.92[AFR][1000 genomes]
rs6851383	0.86[AFR][1000 genomes]
rs6854881	0.89[AFR][1000 genomes]
rs73157398	0.93[AMR][1000 genomes];0.86[EUR][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	nsv879015	chr4:54596466-54665559	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv527672	chr4:54626228-54637201	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2412494	UTS2D	trans	lymphoblastoid	seeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54629200-54634400	Enhancers	Muscle Satellite Cultured Cells	--
2	chr4:54629400-54633800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:54630800-54634000	Enhancers	NHLF	lung
4	chr4:54630800-54635000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr4:54630800-54635800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:54631000-54635800	Enhancers	Osteobl	bone
7	chr4:54631600-54633400	Weak transcription	HSMMtube	muscle
8	chr4:54631600-54636200	Weak transcription	Colon Smooth Muscle	Colon
9	chr4:54631800-54633400	Weak transcription	HSMM	muscle
10	chr4:54631800-54633600	Weak transcription	Ovary	ovary
11	chr4:54631800-54633800	Weak transcription	NH-A	brain
12	chr4:54631800-54635800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:54631800-54635800	Enhancers	NHDF-Ad	bronchial
14	chr4:54631800-54637200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr4:54632000-54634600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:54632000-54635000	Weak transcription	Fetal Stomach	stomach
17	chr4:54632400-54634000	Enhancers	HMEC	breast
18	chr4:54632600-54633400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:54632800-54633600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:54632800-54633800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:54633000-54636000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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