Variant report

Variant	rs490280
Chromosome Location	chr6:11622104-11622105
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	chr6:11619529..11622230-chr6:11626189..11628882,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs4574630	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs491225	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs515885	0.82[EUR][1000 genomes]
rs546173	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs559495	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs571984	0.80[EUR][1000 genomes]
rs707813	0.82[EUR][1000 genomes]
rs9394184	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs490280	EDN1	cis	parietal	SCAN
rs490280	C6orf218	cis	cerebellum	SCAN
rs490280	EDN1	cis	cerebellum	SCAN
rs490280	PIP5K1P1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11610200-11631400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:11611200-11622600	Weak transcription	Fetal Muscle Leg	muscle
3	chr6:11616600-11622200	Weak transcription	Psoas Muscle	Psoas
4	chr6:11616800-11622200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr6:11616800-11622400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr6:11616800-11622600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr6:11616800-11622800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:11616800-11623000	Weak transcription	Lung	lung
9	chr6:11618600-11622600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:11618800-11625200	Weak transcription	HSMM	muscle
11	chr6:11618800-11627200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:11620200-11622400	Weak transcription	Colon Smooth Muscle	Colon
13	chr6:11620800-11623200	Enhancers	Fetal Kidney	kidney
14	chr6:11621000-11622200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr6:11621200-11622200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:11621200-11623800	Enhancers	Fetal Stomach	stomach
17	chr6:11621400-11623200	Enhancers	Fetal Lung	lung
18	chr6:11621800-11622800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:11621800-11623000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:11621800-11623000	Enhancers	Fetal Heart	heart
21	chr6:11622000-11625200	Weak transcription	HSMMtube	muscle

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