Variant report

Variant	rs2389547
Chromosome Location	chr6:121803759-121803760
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12201001	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1359234	0.88[ASN][1000 genomes]
rs1408277	0.95[ASN][1000 genomes]
rs1408278	0.88[ASN][1000 genomes]
rs4946571	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4946573	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6569210	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6569211	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6901013	0.86[ASN][1000 genomes]
rs6921266	0.82[ASN][1000 genomes]
rs7742729	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7748671	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7762594	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9398635	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9490300	0.88[ASN][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	nsv966657	chr6:121786080-121806494	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv5458	chr6:121787521-121823054	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121801000-121806200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:121801600-121806200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr6:121802600-121804000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:121802600-121804000	Enhancers	HUVEC	blood vessel
5	chr6:121802600-121808600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:121802800-121803800	Enhancers	HSMM	muscle
7	chr6:121803000-121804000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:121803000-121806000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:121803000-121806200	Weak transcription	HMEC	breast
10	chr6:121803200-121805600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr6:121803200-121806200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr6:121803200-121806200	Weak transcription	NHEK	skin
13	chr6:121803200-121806400	Weak transcription	Hela-S3	cervix
14	chr6:121803400-121805400	Weak transcription	A549	lung
15	chr6:121803400-121806400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:121803600-121803800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:121803600-121805600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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