Variant report

Variant	rs62489130
Chromosome Location	chr7:129156827-129156828
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1248449	0.97[EUR][1000 genomes]
rs592034	0.91[EUR][1000 genomes]
rs604699	0.84[EUR][1000 genomes]
rs605030	0.85[EUR][1000 genomes]
rs62489129	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62490862	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62490865	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62490868	0.87[AMR][1000 genomes]
rs62490872	0.82[AMR][1000 genomes]
rs635651	0.85[EUR][1000 genomes]
rs682434	0.91[EUR][1000 genomes]
rs6977678	0.91[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	nsv831128	chr7:129063040-129240800	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv3398489	chr7:129156058-129157171	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129150800-129175400	Weak transcription	Right Atrium	heart
2	chr7:129152000-129162600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:129153800-129157800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:129154600-129159800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:129154800-129158800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:129154800-129159200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:129154800-129159200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr7:129154800-129159400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:129154800-129162000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr7:129155000-129157600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:129155000-129159600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr7:129155000-129159600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:129155200-129159600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:129156400-129157200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:129156800-129157000	Enhancers	Primary T cells fromperipheralblood	blood

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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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