Variant report

Variant	rs55787629
Chromosome Location	chr1:224707614-224707615
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs13376231	1.00[EUR][1000 genomes]
rs13376387	1.00[ASN][1000 genomes]
rs57898225	1.00[EUR][1000 genomes]
rs59066189	1.00[EUR][1000 genomes]
rs60544953	1.00[EUR][1000 genomes]
rs60976873	1.00[EUR][1000 genomes]
rs61004241	1.00[EUR][1000 genomes]
rs61155218	1.00[EUR][1000 genomes]
rs61479600	1.00[EUR][1000 genomes]
rs6676481	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6683232	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74146364	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74146365	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74146366	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74146367	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74146368	1.00[EUR][1000 genomes]
rs7522430	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 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	chr1:224694200-224717600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:224694200-224727600	Weak transcription	Brain Anterior Caudate	brain
3	chr1:224696400-224716600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:224701800-224709200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:224701800-224716600	Weak transcription	Ovary	ovary
6	chr1:224702000-224709200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:224702000-224716600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:224702200-224716600	Weak transcription	Dnd41	blood
9	chr1:224703400-224711200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:224705200-224713600	Weak transcription	Fetal Brain Male	brain
11	chr1:224705800-224708000	Weak transcription	HSMM	muscle
12	chr1:224706400-224711400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:224706600-224709400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:224706600-224711600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:224707000-224708600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:224707600-224708200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:224707600-224708400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:224707600-224708600	Enhancers	NHDF-Ad	bronchial

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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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