Variant report

Variant	rs61938070
Chromosome Location	chr12:119827257-119827258
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11608731	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11610334	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11610654	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611983	1.00[ASN][1000 genomes]
rs11615885	1.00[ASN][1000 genomes]
rs35039180	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56974423	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61938066	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61938069	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61938071	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61938072	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61938075	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61939525	1.00[ASN][1000 genomes]
rs61939527	1.00[ASN][1000 genomes]
rs61939529	1.00[ASN][1000 genomes]
rs61939533	1.00[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	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv916688	chr12:119801814-120044407	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119819400-119830800	Weak transcription	Right Atrium	heart
2	chr12:119824600-119827800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr12:119825200-119827400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:119825200-119827400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:119825200-119829400	Weak transcription	Fetal Heart	heart
6	chr12:119825400-119830000	Weak transcription	Fetal Lung	lung
7	chr12:119826000-119827400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:119826000-119828400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:119826200-119827400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:119827000-119828800	Weak transcription	Left Ventricle	heart
11	chr12:119827000-119829200	Enhancers	iPS-20b 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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