Variant report

Variant	rs61783189
Chromosome Location	chr1:77229607-77229608
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17376644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55681563	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61783188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61783195	0.90[ASN][1000 genomes]
rs6663361	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7530453	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7530899	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs924297	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003826	chr1:76965331-77656929	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv535006	chr1:76965331-77656929	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv526433	chr1:77030764-77268215	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1001253	chr1:77077660-77234093	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1005649	chr1:77141039-77398747	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr1:77224200-77231800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr1:77224400-77231800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:77225200-77230600	Weak transcription	Spleen	Spleen
4	chr1:77229000-77230400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr1:77229200-77229800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr1:77229200-77230200	Enhancers	Fetal Lung	lung
7	chr1:77229600-77229800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:77229600-77229800	Enhancers	Rectal Smooth Muscle	rectum
9	chr1:77229600-77230000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:77229600-77230200	Enhancers	Brain Germinal Matrix	brain
11	chr1:77229600-77230200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:77229600-77230400	Enhancers	Fetal Brain Male	brain
13	chr1:77229600-77230400	Enhancers	Fetal Brain Female	brain
14	chr1:77229600-77230600	Enhancers	Fetal Muscle Leg	muscle
15	chr1:77229600-77230600	Enhancers	Ovary	ovary
16	chr1:77229600-77230800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:77229600-77231200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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