Variant report

Variant	rs547466
Chromosome Location	chr6:72204075-72204076
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs472935	0.93[ASN][1000 genomes]
rs492196	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs493265	0.93[ASN][1000 genomes]
rs494938	0.90[ASN][1000 genomes]
rs495002	0.90[ASN][1000 genomes]
rs503993	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs504139	0.93[ASN][1000 genomes]
rs504983	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs524110	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs547558	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs548456	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs555643	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs558116	0.93[ASN][1000 genomes]
rs580319	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[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	nsv830684	chr6:72094842-72282684	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	488 gene(s)	inside rSNPs	diseases
2	nsv1025409	chr6:72175998-72205044	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:72192000-72209600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:72198400-72205200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr6:72199600-72205600	Weak transcription	Aorta	Aorta
4	chr6:72199800-72205000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:72200000-72205000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:72200000-72205200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:72200200-72205200	Weak transcription	Osteobl	bone
8	chr6:72200200-72205400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:72200400-72205200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:72200400-72205200	Weak transcription	HUVEC	blood vessel
11	chr6:72200600-72205000	Weak transcription	NHLF	lung
12	chr6:72200800-72205600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:72201000-72205200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr6:72201000-72205200	Weak transcription	Fetal Muscle Leg	muscle
15	chr6:72201000-72206400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr6:72201400-72205200	Weak transcription	HSMMtube	muscle
17	chr6:72201600-72205200	Weak transcription	HSMM	muscle
18	chr6:72202400-72205600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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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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